-
1
-
-
0024373304
-
The recognition and management of albinism
-
Abadi, R., and E. Pascal. The recognition and management of albinism. Ophthalmic Physiol. Opt. 9:3-15, 1989.
-
(1989)
Ophthalmic Physiol. Opt
, vol.9
, pp. 3-15
-
-
Abadi, R.1
Pascal, E.2
-
2
-
-
0036785337
-
Motor and sensory characteristics of infantile nystagmus
-
Abadi, R. V., and A. Bjerre. Motor and sensory characteristics of infantile nystagmus. Br. J. Ophthalmol. 86:1152-1160, 2002.
-
(2002)
Br. J. Ophthalmol
, vol.86
, pp. 1152-1160
-
-
Abadi, R.V.1
Bjerre, A.2
-
3
-
-
0026604459
-
The distribution of macular pigment in human albinos
-
Abadi, R. V., and M. J. Cox. The distribution of macular pigment in human albinos. Invest. Ophthalmol. Vis. Sci. 33:494-497, 1992.
-
(1992)
Invest. Ophthalmol. Vis. Sci
, vol.33
, pp. 494-497
-
-
Abadi, R.V.1
Cox, M.J.2
-
4
-
-
0021084928
-
Monochromatic fundus photography of human albinos
-
Abadi, R. V., and C. M. Dickinson. Monochromatic fundus photography of human albinos. Arch. Ophthalmol. 101:1706-1711, 1983.
-
(1983)
Arch. Ophthalmol
, vol.101
, pp. 1706-1711
-
-
Abadi, R.V.1
Dickinson, C.M.2
-
5
-
-
84889628997
-
Histological examination of a case of albinism
-
Adler, J. E. Histological examination of a case of albinism. Biometrika 7:237-247, 1910.
-
(1910)
Biometrika
, vol.7
, pp. 237-247
-
-
Adler, J.E.1
-
6
-
-
0027031118
-
The effect of oxygen on melanin precursors released from retinal pigment epithelial cells in vitro
-
Akeo, K., N. Ueno, and C. K. Dorey. The effect of oxygen on melanin precursors released from retinal pigment epithelial cells in vitro. Pigment Cell Res. 5:379-386, 1992.
-
(1992)
Pigment Cell Res
, vol.5
, pp. 379-386
-
-
Akeo, K.1
Ueno, N.2
Dorey, C.K.3
-
7
-
-
0031964911
-
Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome)
-
Amiel, J., P. M. Watkin, M. Tassabehji, A. P. Read, and R. M. Winter. Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). Clin. Dysmorphol. 7:17-20, 1998.
-
(1998)
Clin. Dysmorphol
, vol.7
, pp. 17-20
-
-
Amiel, J.1
Watkin, P.M.2
Tassabehji, M.3
Read, A.P.4
Winter, R.M.5
-
8
-
-
0026351190
-
Detection of optic pathway misrouting in the human albino neonate
-
Apkarian, P., P. G. Eckhardt, and M. J. van Schooneveld. Detection of optic pathway misrouting in the human albino neonate. Neuropediatrics 22:211-215, 1990.
-
(1990)
Neuropediatrics
, vol.22
, pp. 211-215
-
-
Apkarian, P.1
Eckhardt, P.G.2
Van Schooneveld, M.J.3
-
9
-
-
84907112933
-
Oculocutaneous albinism in Cameroon: a 15-year follow-up study
-
Aquaron, R. Oculocutaneous albinism in Cameroon: a 15-year follow-up study. Ophthalmic Pediatr. Genet. 11:255-263, 1990.
-
(1990)
Ophthalmic Pediatr. Genet
, vol.11
, pp. 255-263
-
-
Aquaron, R.1
-
10
-
-
1842283284
-
Albinism in south-western Nigeria
-
Barnicot, N. A. Albinism in south-western Nigeria. Ann. Eugenics 17:39-73, 1952.
-
(1952)
Ann. Eugenics
, vol.17
, pp. 39-73
-
-
Barnicot, N.A.1
-
11
-
-
0025296008
-
The influence of inner ear melanin on susceptibility to TTS in humans
-
Barrenas, M.-L., and F. Lindgren. The influence of inner ear melanin on susceptibility to TTS in humans. Scand. Audiol. 19:97-102, 1990.
-
(1990)
Scand. Audiol
, vol.19
, pp. 97-102
-
-
Barrenas, M.-L.1
Lindgren, F.2
-
12
-
-
0030218918
-
The genetics of pigmentation: from fancy genes to complex traits
-
Barsh, G. S. The genetics of pigmentation: from fancy genes to complex traits. Trends Genet. 12:299-305, 1996.
-
(1996)
Trends Genet
, vol.12
, pp. 299-305
-
-
Barsh, G.S.1
-
13
-
-
0029059066
-
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
-
Bassi, M. T., M. V. Schiaffino, A. Renieri, F. De Nigris, L. Galli, M. Bruttini, M. Gebbia, A. A. B. Bergen, R. A. Lewis, and A. Ballabio. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nature Genet. 10:13-19, 1995.
-
(1995)
Nature Genet
, vol.10
, pp. 13-19
-
-
Bassi, M.T.1
Schiaffino, M.V.2
Renieri, A.3
De Nigris, F.4
Galli, L.5
Bruttini, M.6
Gebbia, M.7
Bergen, A.A.B.8
Lewis, R.A.9
Ballabio, A.10
-
14
-
-
0033361795
-
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats
-
Bassi, M. T., R. S. Ramesar, B. Caciotti, I. M. Winship, A. De Grandi, M. Riboni, P. L. Townes, P. Beighton, A. Ballabio, and G. Borsani. X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. Am. J. Hum. Genet. 64:1604-1616, 1999.
-
(1999)
Am. J. Hum. Genet
, vol.64
, pp. 1604-1616
-
-
Bassi, M.T.1
Ramesar, R.S.2
Caciotti, B.3
Winship, I.M.4
De Grandi, A.5
Riboni, M.6
Townes, P.L.7
Beighton, P.8
Ballabio, A.9
Borsani, G.10
-
15
-
-
0025142364
-
Rescue of the albino phenotype by introduction of a functional tyrosinase gene into mice
-
Beermann, F., S. Ruppert, E. Hummler, F. X. Bosch, G. Müller, U. Ruther, and G. Schütz. Rescue of the albino phenotype by introduction of a functional tyrosinase gene into mice. EMBO J. 9:2819-2826, 1990.
-
(1990)
EMBO J
, vol.9
, pp. 2819-2826
-
-
Beermann, F.1
Ruppert, S.2
Hummler, E.3
Bosch, F.X.4
Müller, G.5
Ruther, U.6
Schütz, G.7
-
16
-
-
0026572479
-
Expression of the mouse tyrosinase gene during embryonic development: Recapitulation of the temporal regulation in transgenic mice
-
Beermann F., E. Schmid, and G. Schütz. Expression of the mouse tyrosinase gene during embryonic development: Recapitulation of the temporal regulation in transgenic mice. Proc. Natl. Acad. Sci. USA 89:2809-2813, 1992.
-
(1992)
Proc. Natl. Acad. Sci. USA
, vol.89
, pp. 2809-2813
-
-
Beermann, F.1
Schmid, E.2
Schütz, G.3
-
18
-
-
0034697167
-
A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature
-
Berson, J. F., D. W. Frank, P. A. Calvo, B. M. Bieler, and M. S. Marks. A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature. J. Biol. Chem. 275:12281-12289, 2000.
-
(2000)
J. Biol. Chem
, vol.275
, pp. 12281-12289
-
-
Berson, J.F.1
Frank, D.W.2
Calvo, P.A.3
Bieler, B.M.4
Marks, M.S.5
-
19
-
-
2442644983
-
GABA content in the retina of pigmented and albino rats
-
Blaszczyk, W. M., H. Straub, and C. Distler. GABA content in the retina of pigmented and albino rats. Neuroreport 15:1141-1144, 2004.
-
(2004)
Neuroreport
, vol.15
, pp. 1141-1144
-
-
Blaszczyk, W.M.1
Straub, H.2
Distler, C.3
-
20
-
-
0029886028
-
Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3"
-
Boissy, R. E., H. Zhao, W. S. Oetting, L. M. Austin, S. C. Wildenberg, Y. L. Boissy, Y. Zhao, R. A. Strum, V. J. Hearing, R. A. King, and J. J. Nordlund. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3". Am. J. Hum. Genet. 48:1145-1156, 1996.
-
(1996)
Am. J. Hum. Genet
, vol.48
, pp. 1145-1156
-
-
Boissy, R.E.1
Zhao, H.2
Oetting, W.S.3
Austin, L.M.4
Wildenberg, S.C.5
Boissy, Y.L.6
Zhao, Y.7
Strum, R.A.8
Hearing, V.J.9
King, R.A.10
Nordlund, J.J.11
-
21
-
-
0030853156
-
Pigmented skin lesions in tyrosinase-positive oculocutaneous albinos: a study in black South Africans
-
Bothwell, J. E. Pigmented skin lesions in tyrosinase-positive oculocutaneous albinos: a study in black South Africans. Int. J. Dermatol. 36:831-836, 1997.
-
(1997)
Int. J. Dermatol
, vol.36
, pp. 831-836
-
-
Bothwell, J.E.1
-
22
-
-
0028297479
-
Evoked potential analysis of visual pathways in human albinism
-
Bouzas, E. A., R. C. Caruso, M. A. Drews-Bankiewicz, and M. I. Kaiser-Kupfer. Evoked potential analysis of visual pathways in human albinism. Ophthalmology 101:309-314, 1994.
-
(1994)
Ophthalmology
, vol.101
, pp. 309-314
-
-
Bouzas, E.A.1
Caruso, R.C.2
Drews-Bankiewicz, M.A.3
Kaiser-Kupfer, M.I.4
-
23
-
-
1642546252
-
Visual electrophysiological screening in diagnosing infants with congenital nystagmus
-
Brecelj, J., and B. Stirn-Kranjc. Visual electrophysiological screening in diagnosing infants with congenital nystagmus. Clin. Neurophysiol. 115:461-470, 2004.
-
(2004)
Clin. Neurophysiol
, vol.115
, pp. 461-470
-
-
Brecelj, J.1
Stirn-Kranjc, B.2
-
24
-
-
0028308466
-
Initiation codon mutation of the tyrosinase gene as a cause of human albinism
-
Breimer, L. H., A. F. Winder, B. Jay, and M. Jay. Initiation codon mutation of the tyrosinase gene as a cause of human albinism. Clin. Chim. Acta 227:17-22, 1994.
-
(1994)
Clin. Chim. Acta
, vol.227
, pp. 17-22
-
-
Breimer, L.H.1
Winder, A.F.2
Jay, B.3
Jay, M.4
-
25
-
-
0035088810
-
The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH 2
-
Brilliant, M. H. The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH 2. Pigment Cell Res. 14:86-93, 2001.
-
(2001)
Pigment Cell Res
, vol.14
, pp. 86-93
-
-
Brilliant, M.H.1
-
26
-
-
0026127992
-
Identification of two types of melanocyte within the stria vascularis of the mouse inner ear
-
Cable, J., and K. P. Steel. Identification of two types of melanocyte within the stria vascularis of the mouse inner ear. Pigment Cell Res. 4:87-101, 1991.
-
(1991)
Pigment Cell Res
, vol.4
, pp. 87-101
-
-
Cable, J.1
Steel, K.P.2
-
27
-
-
18044402480
-
Mutation analysis of the tyrosinase gene in oculocutaneous albinism
-
Camand, O., D. Marchant, S. Boutboul, M. Pequignot, S. Odent, H. Dollfus, J. Sutherland, A. Levin, M. Menasche, C. Marsac, J. L. Dufier, E. Heon, and M. Abitbol. Mutation analysis of the tyrosinase gene in oculocutaneous albinism. Hum. Mutat. 17:352, 2001.
-
(2001)
Hum. Mutat
, vol.17
, pp. 352
-
-
Camand, O.1
Marchant, D.2
Boutboul, S.3
Pequignot, M.4
Odent, S.5
Dollfus, H.6
Sutherland, J.7
Levin, A.8
Menasche, M.9
Marsac, C.10
Dufier, J.L.11
Heon, E.12
Abitbol, M.13
-
29
-
-
0025764369
-
Variable expression of albinism within a single kindred
-
Castronuovo, S., J. W. Simon, G. L. Kandel, A. Morier, B. Wolf, C. J. Witkop, and P. L. Jenkins. Variable expression of albinism within a single kindred. Am. J. Ophthalmol. 111:419-426, 1991.
-
(1991)
Am. J. Ophthalmol
, vol.111
, pp. 419-426
-
-
Castronuovo, S.1
Simon, J.W.2
Kandel, G.L.3
Morier, A.4
Wolf, B.5
Witkop, C.J.6
Jenkins, P.L.7
-
30
-
-
0027051046
-
Genetic counseling in X-linked ocular albinism. Clinical features of the carrier state
-
Charles, S. J., A. T. Moore, J. W. Grant, and J. R. W. Yates. Genetic counseling in X-linked ocular albinism. Clinical features of the carrier state. Eye 6:75-79, 1992.
-
(1992)
Eye
, vol.6
, pp. 75-79
-
-
Charles, S.J.1
Moore, A.T.2
Grant, J.W.3
Yates, J.R.W.4
-
31
-
-
0027233787
-
Clinical features of affected males with X-linked ocular albinism
-
Charles, S. J., J. S. Green, J. W. Grant, J. R. W. Yates, and A. T. Moore. Clinical features of affected males with X-linked ocular albinism. Br. J. Ophthalmol. 77:222-227, 1993.
-
(1993)
Br. J. Ophthalmol
, vol.77
, pp. 222-227
-
-
Charles, S.J.1
Green, J.S.2
Grant, J.W.3
Yates, J.R.W.4
Moore, A.T.5
-
33
-
-
0022003496
-
The oculomotor behaviour of human albinos
-
Collewijn, H., P. Apkarian, and H. Spekreijse. The oculomotor behaviour of human albinos. Brain 108:1-28, 1985.
-
(1985)
Brain
, vol.108
, pp. 1-28
-
-
Collewijn, H.1
Apkarian, P.2
Spekreijse, H.3
-
34
-
-
0021241109
-
Auditory brainstem anomalies in albino cats: II. Neuronal atrophy in the superior olive
-
Conlee, J. W., T. N. Parks, C. Romero, and D. J. Creel. Auditory brainstem anomalies in albino cats: II. Neuronal atrophy in the superior olive. J. Comp. Neurol. 225:141-148, 1984.
-
(1984)
J. Comp. Neurol
, vol.225
, pp. 141-148
-
-
Conlee, J.W.1
Parks, T.N.2
Romero, C.3
Creel, D.J.4
-
35
-
-
0023940182
-
Effects of aging on normal hearing loss and noise-induced threshold shift in albino and pigmented guinea pigs
-
Conlee, J. W., K. J. Abdul-Baqi, G. A. McCandless, and D. J. Creel. Effects of aging on normal hearing loss and noise-induced threshold shift in albino and pigmented guinea pigs. Acta Otolaryngol. 106:64-70, 1988.
-
(1988)
Acta Otolaryngol
, vol.106
, pp. 64-70
-
-
Conlee, J.W.1
Abdul-Baqi, K.J.2
McCandless, G.A.3
Creel, D.J.4
-
36
-
-
0024540954
-
Comparative anatomy of melanin pigment in the stria vascularis
-
Conlee, J. W., T. N. Parks, I. R. Schwartz, and D. J. Creel. Comparative anatomy of melanin pigment in the stria vascularis. Acta Otolaryngol. 107:45-58, 1989.
-
(1989)
Acta Otolaryngol
, vol.107
, pp. 45-58
-
-
Conlee, J.W.1
Parks, T.N.2
Schwartz, I.R.3
Creel, D.J.4
-
37
-
-
0025879227
-
Turn-specific and pigment-dependent differences in the stria vascularis of normal and gentamicin-treated albino and pigmented guinea pigs
-
Conlee, J. W., R. P. Jensen, T. N. Parks, and D. J. Creel. Turn-specific and pigment-dependent differences in the stria vascularis of normal and gentamicin-treated albino and pigmented guinea pigs. Hearing Res. 55:57-69, 1991.
-
(1991)
Hearing Res
, vol.55
, pp. 57-69
-
-
Conlee, J.W.1
Jensen, R.P.2
Parks, T.N.3
Creel, D.J.4
-
38
-
-
0041885144
-
Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4
-
Costin, G. E., J. C. Valencia, W. D. Vieira, M. L. Lamoreux, and V. J. Hearing. Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4. J. Cell Sci. 116(Pt 15): 3203-3212, 2003.
-
(2003)
J. Cell Sci
, vol.116
, Issue.PT. 15
, pp. 3203-3212
-
-
Costin, G.E.1
Valencia, J.C.2
Vieira, W.D.3
Lamoreux, M.L.4
Hearing, V.J.5
-
39
-
-
0019026331
-
Inappropriate use of albino animals as models in research
-
Creel, D. J. Inappropriate use of albino animals as models in research. Pharm. Biochem. Behav. 12:969-977, 1980.
-
(1980)
Pharm. Biochem. Behav
, vol.12
, pp. 969-977
-
-
Creel, D.J.1
-
40
-
-
0016137862
-
Asymmetric visually evoked potentials in human albinos: evidence for visual system anomalies
-
Creel, D. J., C. J. Witkop, and R. A. King. Asymmetric visually evoked potentials in human albinos: evidence for visual system anomalies. Invest. Ophthalmol. 13:430-440, 1974.
-
(1974)
Invest. Ophthalmol
, vol.13
, pp. 430-440
-
-
Creel, D.J.1
Witkop, C.J.2
King, R.A.3
-
41
-
-
0018087645
-
Visual system anomalies in human ocular albinos
-
Creel, D., F. E. O'Donnell, and C. J. Witkop. Visual system anomalies in human ocular albinos. Science 201:931-933, 1978.
-
(1978)
Science
, vol.201
, pp. 931-933
-
-
Creel, D.1
O'Donnell, F.E.2
Witkop, C.J.3
-
42
-
-
0020693185
-
Auditory brainstem anomalies in albino cats. I. Evoked potential studies
-
a
-
Creel, D. J., J. W. Conlee, and T. N. Parks. Auditory brainstem anomalies in albino cats. I. Evoked potential studies. Brain Res. 260:1-9, 1983 a.
-
(1983)
Brain Res
, vol.260
, pp. 1-9
-
-
Creel, D.J.1
Conlee, J.W.2
Parks, T.N.3
-
43
-
-
0019303476
-
Auditory brainstem anomalies in human albinos
-
Creel, D. J., S. R. Garber, R. A. King, and C. J. Witkop, Jr. Auditory brainstem anomalies in human albinos. Science 209:1253-1255, 1980.
-
(1980)
Science
, vol.209
, pp. 1253-1255
-
-
Creel, D.J.1
Garber, S.R.2
King, R.A.3
Witkop Jr., C.J.4
-
44
-
-
0019777415
-
Evoked potentials in albinos: efficacy of pattern stimuli in detecting misrouted optic fibers
-
Creel, D. J., H. Spekreijse, and D. Reits. Evoked potentials in albinos: efficacy of pattern stimuli in detecting misrouted optic fibers. Elec-troenceph. Clin. Neurophys. 52:595-603, 1981.
-
(1981)
Elec-troenceph. Clin. Neurophys
, vol.52
, pp. 595-603
-
-
Creel, D.J.1
Spekreijse, H.2
Reits, D.3
-
46
-
-
0345802825
-
Tyrosinase expression during neuroblast divisions affects later pathfinding by retinal ganglion cells
-
Cronin, C. A., A. B. Ryan, E. M. Talley, and H. Scrable. Tyrosinase expression during neuroblast divisions affects later pathfinding by retinal ganglion cells. J. Neurosci. 23:11692-11697, 2003.
-
(2003)
J. Neurosci
, vol.23
, pp. 11692-11697
-
-
Cronin, C.A.1
Ryan, A.B.2
Talley, E.M.3
Scrable, H.4
-
47
-
-
0344421210
-
Hereditry of skin pigment in man. II-E. Inheritance of albinism
-
Davenport, G. C., and C. B. Davenport. Hereditry of skin pigment in man. II-E. Inheritance of albinism. Am. Naturalist 44:705-731, 1910.
-
(1910)
Am. Naturalist
, vol.44
, pp. 705-731
-
-
Davenport, G.C.1
Davenport, C.B.2
-
49
-
-
0036206972
-
Correlation between rod photoreceptor numbers and levels of ocular pigmentation
-
Donatien, P., and G. Jeffery. Correlation between rod photoreceptor numbers and levels of ocular pigmentation. Invest. Ophthalmol. Vis. Sci. 43:1198-1203, 2002.
-
(2002)
Invest. Ophthalmol. Vis. Sci
, vol.43
, pp. 1198-1203
-
-
Donatien, P.1
Jeffery, G.2
-
50
-
-
0038356407
-
The clinical features of albinism and their correlation with visual evoked potentials
-
Dorey, S. E., M. M. Neveu, L. C. Burton, J. J. Sloper, and G. E. Holder. The clinical features of albinism and their correlation with visual evoked potentials. Br. J. Ophthalmol. 87:767-772, 2003.
-
(2003)
Br. J. Ophthalmol
, vol.87
, pp. 767-772
-
-
Dorey, S.E.1
Neveu, M.M.2
Burton, L.C.3
Sloper, J.J.4
Holder, G.E.5
-
51
-
-
0021986211
-
Birth dates of retinal ganglion cells giving rise to the crossed and uncrossed optic projections in the mouse
-
Drager, U. C. Birth dates of retinal ganglion cells giving rise to the crossed and uncrossed optic projections in the mouse. Proc. R. Soc. London B Biol. Sci. 224(1234): 57-77, 1985.
-
(1985)
Proc. R. Soc. London B Biol. Sci
, vol.224
, Issue.1234
, pp. 57-77
-
-
Drager, U.C.1
-
52
-
-
0028232893
-
African origin of an intragenic deletion of the human P gene in tyrosinase-positive oculocutaneous albinism
-
Durham-Pierre, D., J. M. Gardner, Y. Nakatsu, R. A. King, U. Francke, A. Ching, R. Aquaron, V. del Marmol, and M. H. Brilliant. African origin of an intragenic deletion of the human P gene in tyrosinase-positive oculocutaneous albinism. Nature Genet. 7:176-179, 1994.
-
(1994)
Nature Genet
, vol.7
, pp. 176-179
-
-
Durham-Pierre, D.1
Gardner, J.M.2
Nakatsu, Y.3
King, R.A.4
Francke, U.5
Ching, A.6
Aquaron, R.7
Del Marmol, V.8
Brilliant, M.H.9
-
53
-
-
0343399198
-
Vision of albinos
-
Edmunds, R. T. Vision of albinos. Arch. Ophthalmol. 42:755-767, 1949.
-
(1949)
Arch. Ophthalmol
, vol.42
, pp. 755-767
-
-
Edmunds, R.T.1
-
54
-
-
0032030740
-
Reduced retinal deficits in an albino mammal with a cone rich retina: a study of the ganglion cell layer at the area centralis of pigmented and albino grey squirrels
-
Esteve, J. V., and G. Jeffery. Reduced retinal deficits in an albino mammal with a cone rich retina: a study of the ganglion cell layer at the area centralis of pigmented and albino grey squirrels. Vision Res. 38:937-940, 1998.
-
(1998)
Vision Res
, vol.38
, pp. 937-940
-
-
Esteve, J.V.1
Jeffery, G.2
-
56
-
-
84982000659
-
Dominant oculocutaneous albinism
-
Fitzpatrick, T. B., K. Jimbow, and D. D. Donaldson. Dominant oculocutaneous albinism. Br. J. Dermatol. 91(Suppl. 10):23, 1974.
-
(1974)
Br. J. Dermatol
, vol.91
, Issue.SUPPL. 10
, pp. 23
-
-
Fitzpatrick, T.B.1
Jimbow, K.2
Donaldson, D.D.3
-
57
-
-
0000480043
-
Characteristics and low-vision corrections in albinism. A report of 161 patients
-
Fonda, G. Characteristics and low-vision corrections in albinism. A report of 161 patients. Arch. Ophthalmol. 68:754-761, 1962.
-
(1962)
Arch. Ophthalmol
, vol.68
, pp. 754-761
-
-
Fonda, G.1
-
58
-
-
0017787405
-
Familial oculo-cutaneous hypopigmenta-tion of dominant transmission due to a disorder in melanocyte formation. Association of Prader-Willi syndrome with a chromosome abnormality in one of the subjects involved
-
Frenk, E., and A. Calame. Familial oculo-cutaneous hypopigmenta-tion of dominant transmission due to a disorder in melanocyte formation. Association of Prader-Willi syndrome with a chromosome abnormality in one of the subjects involved. Schweiz. Med. Wochen-schr. 107:1964-1968, 1977.
-
(1977)
Schweiz. Med. Wochen-schr
, vol.107
, pp. 1964-1968
-
-
Frenk, E.1
Calame, A.2
-
59
-
-
0042322345
-
Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene
-
Fridman, C., N. Hosomi, M. C. Varela, A. H. Souza, K. Fukai, and C. P. Koiffmann. Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene. Am. J. Med. Genet. 119 A: 180-183, 2003.
-
(2003)
Am. J. Med. Genet
, vol.119 A
, pp. 180-183
-
-
Fridman, C.1
Hosomi, N.2
Varela, M.C.3
Souza, A.H.4
Fukai, K.5
Koiffmann, C.P.6
-
60
-
-
0017044259
-
A decay of gap junctions in association with cell differentiation of neural retina in chick embryonic development
-
Fujisawa, H., H. Morioka, K. Watanabe, and H. Nakamura. A decay of gap junctions in association with cell differentiation of neural retina in chick embryonic development. J. Cell Sci. 22:585-596, 1976.
-
(1976)
J. Cell Sci
, vol.22
, pp. 585-596
-
-
Fujisawa, H.1
Morioka, H.2
Watanabe, K.3
Nakamura, H.4
-
61
-
-
0028878474
-
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism
-
Fukai, K., S. A. Holmes, N. J. Lucchese, V. M. Siu, R. G. Weleber, R. E. Schnur, and R. A. Spritz. Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nature Genet. 9:92-95, 1995.
-
(1995)
Nature Genet
, vol.9
, pp. 92-95
-
-
Fukai, K.1
Holmes, S.A.2
Lucchese, N.J.3
Siu, V.M.4
Weleber, R.G.5
Schnur, R.E.6
Spritz, R.A.7
-
62
-
-
0017890539
-
Human albinism. Light and electron microscopy study
-
Fulton, A. B., D. M. Albert, and J. L. Craft. Human albinism. Light and electron microscopy study. Arch. Ophthalmol. 96:305-310, 1978.
-
(1978)
Arch. Ophthalmol
, vol.96
, pp. 305-310
-
-
Fulton, A.B.1
Albert, D.M.2
Craft, J.L.3
-
63
-
-
0020323639
-
Auditory system abnormalities in human albinos
-
Garber, S. R., C. W. Turner, D. Creel, and C. J. Witkop, Jr. Auditory system abnormalities in human albinos. Ear Hearing 3:207-210, 1982.
-
(1982)
Ear Hearing
, vol.3
, pp. 207-210
-
-
Garber, S.R.1
Turner, C.W.2
Creel, D.3
Witkop Jr., C.J.4
-
64
-
-
0026686945
-
The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes
-
Gardner, J. M., Y. Nakatsu, Y. Gondo, S. Lee, M. F. Lyon, R. A. King, and M. H. Brilliant. The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science 257:1121-1124, 1992.
-
(1992)
Science
, vol.257
, pp. 1121-1124
-
-
Gardner, J.M.1
Nakatsu, Y.2
Gondo, Y.3
Lee, S.4
Lyon, M.F.5
King, R.A.6
Brilliant, M.H.7
-
65
-
-
50249219919
-
Croonian lectures on inborn errors of metabolism. Lecture 1
-
Garrod, A. E. Croonian lectures on inborn errors of metabolism. Lecture 1. Lancet 2:1-7, 1908.
-
(1908)
Lancet
, vol.2
, pp. 1-7
-
-
Garrod, A.E.1
-
66
-
-
0025336408
-
A frequent tyrosinase gene mutation in classic, tyrosinase-negative (Type IA) oculocutaneous albinism
-
Giebel, L. B., K. M. Strunk, R. A. King, J. M. Hanifin, and R. A. Spritz. A frequent tyrosinase gene mutation in classic, tyrosinase-negative (Type IA) oculocutaneous albinism. Proc. Natl Acad. Sci. USA 87:3255-3258, 1990.
-
(1990)
Proc. Natl Acad. Sci. USA
, vol.87
, pp. 3255-3258
-
-
Giebel, L.B.1
Strunk, K.M.2
King, R.A.3
Hanifin, J.M.4
Spritz, R.A.5
-
67
-
-
0025808737
-
A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism
-
a
-
Giebel, L. B., R. K. Tripathi, R. A. King, and R. A. Spritz. A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. J. Clin. Invest. 87:1119-1122, 1991 a.
-
(1991)
J. Clin. Invest
, vol.87
, pp. 1119-1122
-
-
Giebel, L.B.1
Tripathi, R.K.2
King, R.A.3
Spritz, R.A.4
-
68
-
-
0025729679
-
Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism
-
b
-
Giebel, L. B., R. K. Tripathi, K. M. Strunk, J. M. Hanifin, C. E. Jackson, R. A. King, and R. A. Spritz. Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism. Am. J. Hum. Genet. 48:1159-1167, 1991 b.
-
(1991)
Am. J. Hum. Genet
, vol.48
, pp. 1159-1167
-
-
Giebel, L.B.1
Tripathi, R.K.2
Strunk, K.M.3
Hanifin, J.M.4
Jackson, C.E.5
King, R.A.6
Spritz, R.A.7
-
69
-
-
0025868437
-
A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism
-
c
-
Giebel, L. B., M. A. Musarella, and R. A. Spritz. A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. J. Med. Genet. 28:464-467, 1991 c.
-
(1991)
J. Med. Genet
, vol.28
, pp. 464-467
-
-
Giebel, L.B.1
Musarella, M.A.2
Spritz, R.A.3
-
70
-
-
3342920711
-
A transgenic mouse model with inducible tyrosinase gene expression using the tetracycline (Tet-on) system allows regulated rescue of abnormal chiasmatic projections found in albinism
-
Gimenez, E., A. Lavado, P. Giraldo, P. Cozar, G. Jeffery, and L. Montoliu. A transgenic mouse model with inducible tyrosinase gene expression using the tetracycline (Tet-on) system allows regulated rescue of abnormal chiasmatic projections found in albinism. Pigment Cell Res. 17:363-370, 2004.
-
(2004)
Pigment Cell Res
, vol.17
, pp. 363-370
-
-
Gimenez, E.1
Lavado, A.2
Giraldo, P.3
Cozar, P.4
Jeffery, G.5
Montoliu, L.6
-
71
-
-
0035012070
-
Rod photopigment deficits in albinos are specific to mammals and arise during retinal development
-
Grant, S., N. N. Patel, A. R. Philp, C. N. Grey, R. D. Lucas, R. G. Foster, J. K. Bowmaker, and G. Jeffery. Rod photopigment deficits in albinos are specific to mammals and arise during retinal development. Vis. Neurosci. 18:245-251, 2001.
-
(2001)
Vis. Neurosci
, vol.18
, pp. 245-251
-
-
Grant, S.1
Patel, N.N.2
Philp, A.R.3
Grey, C.N.4
Lucas, R.D.5
Foster, R.G.6
Bowmaker, J.K.7
Jeffery, G.8
-
72
-
-
0028917454
-
Autosomal recessive neural crest syndrome with albinism, black locks, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome
-
Gross, A., J. Kunze, R. F. Maier, G. Stoltenburg-Didinger, I. Grimmer, and M. Obladen. Autosomal recessive neural crest syndrome with albinism, black locks, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. Am. J. Med. Genet. 56: 322-326, 1995.
-
(1995)
Am. J. Med. Genet
, vol.56
, pp. 322-326
-
-
Gross, A.1
Kunze, J.2
Maier, R.F.3
Stoltenburg-Didinger, G.4
Grimmer, I.5
Obladen, M.6
-
73
-
-
0016066377
-
Visual pathways in albinos
-
Guillery, R. W. Visual pathways in albinos. Sci. Am. 230:44-54, 1974.
-
(1974)
Sci. Am
, vol.230
, pp. 44-54
-
-
Guillery, R.W.1
-
74
-
-
0016811657
-
Abnormal visual pathways in the brain of a human albino
-
Guillery, R. W., A. N. Okoro, and C. J. Witkop. Abnormal visual pathways in the brain of a human albino. Brain Res. 96:373-377, 1975.
-
(1975)
Brain Res
, vol.96
, pp. 373-377
-
-
Guillery, R.W.1
Okoro, A.N.2
Witkop, C.J.3
-
75
-
-
0030912157
-
Aberrant retention of tyrosinase in the endoplasmic reticulum mediates accelerated degradation of the enzyme and contributes to the dedifferentiated phenotype of amelanotic melanoma cells
-
Halaban, R., E. Cheng, Y. Zhang, G. Moellmann, D. P. Hanlon, M. Michalak, S. Vijayasaradhi, and D. N. Hebert. Aberrant retention of tyrosinase in the endoplasmic reticulum mediates accelerated degradation of the enzyme and contributes to the dedifferentiated phenotype of amelanotic melanoma cells. Proc. Natl Acad. Sci. USA 94:6210-6215, 1997.
-
(1997)
Proc. Natl Acad. Sci. USA
, vol.94
, pp. 6210-6215
-
-
Halaban, R.1
Cheng, E.2
Zhang, Y.3
Moellmann, G.4
Hanlon, D.P.5
Michalak, M.6
Vijayasaradhi, S.7
Hebert, D.N.8
-
76
-
-
0034705048
-
Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism
-
Halaban, R., S. Svedine, E. Cheng, Y. Smicun, R. Aron, and D. N. Hebert. Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism. Proc. Natl Acad. Sci. USA 97:5889-5894, 2000.
-
(2000)
Proc. Natl Acad. Sci. USA
, vol.97
, pp. 5889-5894
-
-
Halaban, R.1
Svedine, S.2
Cheng, E.3
Smicun, Y.4
Aron, R.5
Hebert, D.N.6
-
77
-
-
0035853678
-
Proper folding and endoplasmic reticulum to Golgi transport of tyrosinase are induced by its substrates, DOPA and tyrosine
-
Halaban, R., E. Cheng, S. Svedine, R. Aron, and D. N. Hebert. Proper folding and endoplasmic reticulum to Golgi transport of tyrosinase are induced by its substrates, DOPA and tyrosine. J. Biol. Chem. 276:11933-11938, 2001.
-
(2001)
J. Biol. Chem
, vol.276
, pp. 11933-11938
-
-
Halaban, R.1
Cheng, E.2
Svedine, S.3
Aron, R.4
Hebert, D.N.5
-
78
-
-
0036038263
-
Coexpression of wild-type tyrosinase enhances maturation of temperature-sensitive tyrosinase mutants
-
Halaban, R., E. Cheng, and D. N. Hebert. Coexpression of wild-type tyrosinase enhances maturation of temperature-sensitive tyrosinase mutants. J. Invest. Dermatol. 119:481-488, 2002.
-
(2002)
J. Invest. Dermatol
, vol.119
, pp. 481-488
-
-
Halaban, R.1
Cheng, E.2
Hebert, D.N.3
-
79
-
-
0141522459
-
Zic2 patterns binocular vision by specifying the uncrossed retinal projection
-
Herrera, E., L. Brown, J. Aruga, R. A. Rachel, G. Dolen, K. Mikoshiba, S. Brown, and C. A. Mason. Zic2 patterns binocular vision by specifying the uncrossed retinal projection. Cell 114: 545-557, 2003.
-
(2003)
Cell
, vol.114
, pp. 545-557
-
-
Herrera, E.1
Brown, L.2
Aruga, J.3
Rachel, R.A.4
Dolen, G.5
Mikoshiba, K.6
Brown, S.7
Mason, C.A.8
-
80
-
-
0141641046
-
Organization of the visual cortex in human albinism
-
Hoffmann, M. B., D. J. Tolhurst, A. T. Moore, and A. B. Morland. Organization of the visual cortex in human albinism. J. Neurosci. 23:8921-8930, 2003.
-
(2003)
J. Neurosci
, vol.23
, pp. 8921-8930
-
-
Hoffmann, M.B.1
Tolhurst, D.J.2
Moore, A.T.3
Morland, A.B.4
-
81
-
-
84889629951
-
A case of complete albinism, presented by WO Nance
-
Hotz, F. C. A case of complete albinism, presented by WO Nance. Ill. Med. J. 12:201, 1907.
-
(1907)
Ill. Med. J
, vol.12
, pp. 201
-
-
Hotz, F.C.1
-
82
-
-
0019252819
-
Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism
-
Hu, F., J. M. Hanifin, G. H. Prescott, and A. C. Tongue. Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism. Am. J. Hum. Genet. 32:387-395, 1980.
-
(1980)
Am. J. Hum. Genet
, vol.32
, pp. 387-395
-
-
Hu, F.1
Hanifin, J.M.2
Prescott, G.H.3
Tongue, A.C.4
-
83
-
-
0030565494
-
Delayed neurogenesis in the albino retina: evidence of a role for melanin in regulating the pace of cell generation
-
Ilia, M., and G. Jeffery. Delayed neurogenesis in the albino retina: evidence of a role for melanin in regulating the pace of cell generation. Brain Res. Dev. Brain Res. 95:176-183, 1996.
-
(1996)
Brain Res. Dev. Brain Res
, vol.95
, pp. 176-183
-
-
Ilia, M.1
Jeffery, G.2
-
84
-
-
0033559105
-
Retinal mitosis is regulated by dopa, a melanin precursor that may influence the time at which cells exit the cell cycle: analysis of patterns of cell production in pigmented and albino retinae
-
Ilia, M., and G. Jeffery. Retinal mitosis is regulated by dopa, a melanin precursor that may influence the time at which cells exit the cell cycle: analysis of patterns of cell production in pigmented and albino retinae. J. Comp. Neurol. 405:394-405, 1999.
-
(1999)
J. Comp. Neurol
, vol.405
, pp. 394-405
-
-
Ilia, M.1
Jeffery, G.2
-
85
-
-
0034658204
-
Retinal cell addition and rod production depend on early stages of ocular melanin synthesis
-
Ilia, M., and G. Jeffery. Retinal cell addition and rod production depend on early stages of ocular melanin synthesis. J. Comp. Neurol. 420:437-444, 2000.
-
(2000)
J. Comp. Neurol
, vol.420
, pp. 437-444
-
-
Ilia, M.1
Jeffery, G.2
-
86
-
-
12144290965
-
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan
-
Inagaki, K., T. Suzuki, H. Shimizu, N. Ishii, Y. Umezawa, J. Tada, N. Kikuchi, M. Takata, K. Takamori, M. Kishibe, M. Tanaka, Y. Miyamura, S. Ito, and Y. Tomita. Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. Am. J. Hum. Genet. 74:466-471, 2004.
-
(2004)
Am. J. Hum. Genet
, vol.74
, pp. 466-471
-
-
Inagaki, K.1
Suzuki, T.2
Shimizu, H.3
Ishii, N.4
Umezawa, Y.5
Tada, J.6
Kikuchi, N.7
Takata, M.8
Takamori, K.9
Kishibe, M.10
Tanaka, M.11
Miyamura, Y.12
Ito, S.13
Tomita, Y.14
-
87
-
-
0032447365
-
Toward expression mapping of albinism-deafness syndrome (ADFN) locus on chromosome Xq26
-
Jacob, A. N., G. Kandpal, N. Gill, and R. P. Kandpal. Toward expression mapping of albinism-deafness syndrome (ADFN) locus on chromosome Xq26. Somat. Cell. Mol. Genet. 24:135-140, 1998.
-
(1998)
Somat. Cell. Mol. Genet
, vol.24
, pp. 135-140
-
-
Jacob, A.N.1
Kandpal, G.2
Gill, N.3
Kandpal, R.P.4
-
88
-
-
0021322376
-
Visual acuity development in tyrosinase negative oculocutaneous albinism
-
Jacobson, S. G., I. Mohindra, R. Held, T. P. Dryja, and D. M. Albert. Visual acuity development in tyrosinase negative oculocutaneous albinism. Doc. Ophthalmol. 56:337-344, 1984.
-
(1984)
Doc. Ophthalmol
, vol.56
, pp. 337-344
-
-
Jacobson, S.G.1
Mohindra, I.2
Held, R.3
Dryja, T.P.4
Albert, D.M.5
-
89
-
-
0031043423
-
The albino retina: an abnormality that provides insight into normal retinal development
-
Jeffery, G. The albino retina: an abnormality that provides insight into normal retinal development. Trends Neurosci. 20:165-169, 1997.
-
(1997)
Trends Neurosci
, vol.20
, pp. 165-169
-
-
Jeffery, G.1
-
90
-
-
0031822950
-
The retinal pigment epithelium as a developmental regulator of the neural retina
-
Jeffery, G. The retinal pigment epithelium as a developmental regulator of the neural retina. Eye 12(Pt 3b): 499-503, 1998.
-
(1998)
Eye
, vol.12
, Issue.PT. 3B
, pp. 499-503
-
-
Jeffery, G.1
-
91
-
-
0034789698
-
Architecture of the optic chiasm and the mechanisms that sculpt its development
-
Jeffery, G. Architecture of the optic chiasm and the mechanisms that sculpt its development. Physiol. Rev. 81:1393-1414, 2001.
-
(2001)
Physiol. Rev
, vol.81
, pp. 1393-1414
-
-
Jeffery, G.1
-
92
-
-
0027965349
-
Is abnormal retinal development in albinism only a mammalian problem? Normality of the hypopig-mented avian retina
-
Jeffery, G., and A. Williams. Is abnormal retinal development in albinism only a mammalian problem? Normality of the hypopig-mented avian retina. Exp. Brain Res. 100:47-57, 1994.
-
(1994)
Exp. Brain Res
, vol.100
, pp. 47-57
-
-
Jeffery, G.1
Williams, A.2
-
93
-
-
84907112125
-
In quest of the tyrosinase-positive oculocutaneous albinism gene
-
Jenkins, T., R. A. Heim, D. S. Dunn, E. Zwane, M. A. Colman, M. Ramsay, and J. G. Kromberg. In quest of the tyrosinase-positive oculocutaneous albinism gene. Ophthalmic Pediatr. Genet. 11:251-254, 1990.
-
(1990)
Ophthalmic Pediatr. Genet
, vol.11
, pp. 251-254
-
-
Jenkins, T.1
Heim, R.A.2
Dunn, D.S.3
Zwane, E.4
Colman, M.A.5
Ramsay, M.6
Kromberg, J.G.7
-
94
-
-
0028285975
-
The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in Southern African negroids
-
Kedda, M. A., G. Stevens, P. Manga, C. Vilijoen, T. Jenkins, and M. Ramsay. The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in Southern African negroids. Am. J. Hum. Genet. 54:1078-1084, 1994.
-
(1994)
Am. J. Hum. Genet
, vol.54
, pp. 1078-1084
-
-
Kedda, M.A.1
Stevens, G.2
Manga, P.3
Vilijoen, C.4
Jenkins, T.5
Ramsay, M.6
-
95
-
-
0033973776
-
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa
-
Kerr, R., G. Stevens, P. Manga, S. Salm, P. John, T. Haw, and M. Ramsay. Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. Hum. Mutat. 15:166-172, 2000.
-
(2000)
Hum. Mutat
, vol.15
, pp. 166-172
-
-
Kerr, R.1
Stevens, G.2
Manga, P.3
Salm, S.4
John, P.5
Haw, T.6
Ramsay, M.7
-
96
-
-
0026493464
-
Molecular basis of type IA (tyrosinase negative) oculocutaneous albinism
-
King, R. A., and W. S. Oetting. Molecular basis of type IA (tyrosinase negative) oculocutaneous albinism. Pigment Cell Res. Suppl. 2:249-253, 1992.
-
(1992)
Pigment Cell Res. Suppl
, vol.2
, pp. 249-253
-
-
King, R.A.1
Oetting, W.S.2
-
97
-
-
0022545511
-
Segregation analysis of brown oculocutaneous albinism
-
King, R. A., and S. S. Rich. Segregation analysis of brown oculocutaneous albinism. Clin. Genet. 29:496-501, 1986.
-
(1986)
Clin. Genet
, vol.29
, pp. 496-501
-
-
King, R.A.1
Rich, S.S.2
-
98
-
-
0018848127
-
Albinism in Nigeria with delineation of new recessive oculocutaneous type
-
King, R. A., D. J. Creel, J. Cervenka, A. N. Okoro, and C. J. Witkop. Albinism in Nigeria with delineation of new recessive oculocutaneous type. Clin. Genet. 17:259-270, 1980.
-
(1980)
Clin. Genet
, vol.17
, pp. 259-270
-
-
King, R.A.1
Creel, D.J.2
Cervenka, J.3
Okoro, A.N.4
Witkop, C.J.5
-
99
-
-
0022370630
-
Brown oculocutaneous albinism. Clinical, oph-thalmological, and biochemical characterization
-
King, R. A., R. A. Lewis, D. Townsend, A. Zelickson, D. P. Olds, and J. A. Brumbaugh. Brown oculocutaneous albinism. Clinical, oph-thalmological, and biochemical characterization. Ophthalmology 92:1496-1505, 1985.
-
(1985)
Ophthalmology
, vol.92
, pp. 1496-1505
-
-
King, R.A.1
Lewis, R.A.2
Townsend, D.3
Zelickson, A.4
Olds, D.P.5
Brumbaugh, J.A.6
-
100
-
-
0025906751
-
Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism
-
a
-
King, R. A., D. Townsend, W. S. Oetting, C. G. Summers, D. P. Olds, J. G. White, and R. A. Spritz. Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. J. Clin. Invest. 87:1046-1053, 1991 a.
-
(1991)
J. Clin. Invest
, vol.87
, pp. 1046-1053
-
-
King, R.A.1
Townsend, D.2
Oetting, W.S.3
Summers, C.G.4
Olds, D.P.5
White, J.G.6
Spritz, R.A.7
-
101
-
-
0025851039
-
Non-random distribution of missense mutations within the human tyrosinase gene in Type 1 (tyrosinase-related) oculocutaneous albinism
-
b
-
King, R. A., M. M. Mentink, and W. S. Oetting. Non-random distribution of missense mutations within the human tyrosinase gene in Type 1 (tyrosinase-related) oculocutaneous albinism. Mol. Biol. Med. 8:19-29, 1991 b.
-
(1991)
Mol. Biol. Med
, vol.8
, pp. 19-29
-
-
King, R.A.1
Mentink, M.M.2
Oetting, W.S.3
-
102
-
-
0003720078
-
Albinism
-
In:, 7th edn, C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle (eds). New York: McGraw-Hill
-
King, R. A., V. J. Hearing, D. J. Creel, and W. S. Oetting. Albinism. In: Metabolic and Molecular Bases of Inherited Disease, 7th edn, C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle (eds). New York: McGraw-Hill, 1995.
-
(1995)
Metabolic and Molecular Bases of Inherited Disease
-
-
King, R.A.1
Hearing, V.J.2
Creel, D.J.3
Oetting, W.S.4
-
103
-
-
51749122096
-
Abnormalities of pigmentation
-
In:, 4th edn, D. L. Rimoin, J. M. Connor, and R. F. Pyentz. (eds). London: Harcourt
-
King, R. A., W. S. Oetting, C. G. Summers, D. J. Creel, and V. Hearing. Abnormalities of pigmentation. In: Emery and Rimoin's Principles and Practice of Medical Genetics, 4th edn, D. L. Rimoin, J. M. Connor, and R. F. Pyentz. (eds). London: Harcourt, 2001.
-
(2001)
Emery and Rimoin's Principles and Practice of Medical Genetics
-
-
King, R.A.1
Oetting, W.S.2
Summers, C.G.3
Creel, D.J.4
Hearing, V.5
-
104
-
-
0242690909
-
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype
-
a
-
King, R. A., J. Pietsch, J. P. Fryer, S. Savage, M. J. Brott, I. Russell-Eggitt, C. G. Summers, and W. S. Oetting. Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. Hum. Genet. 113:502-513, 2003 a.
-
(2003)
Hum. Genet
, vol.113
, pp. 502-513
-
-
King, R.A.1
Pietsch, J.2
Fryer, J.P.3
Savage, S.4
Brott, M.J.5
Russell-Eggitt, I.6
Summers, C.G.7
Oetting, W.S.8
-
105
-
-
0041886412
-
MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)
-
b
-
King, R. A., R. K. Willaert, R. M. Schmidt, J. Pietsch, S. Savage, M. J. Brott, J. P. Fryer, C. G. Summers, and W. S. Oetting. MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). Am. J. Hum. Genet. 73:638-645, 2003 b.
-
(2003)
Am. J. Hum. Genet
, vol.73
, pp. 638-645
-
-
King, R.A.1
Willaert, R.K.2
Schmidt, R.M.3
Pietsch, J.4
Savage, S.5
Brott, M.J.6
Fryer, J.P.7
Summers, C.G.8
Oetting, W.S.9
-
107
-
-
0019994487
-
Prevalence of albinism in the South African negro
-
Kromberg, J. G. R., and T. Jenkins. Prevalence of albinism in the South African negro. S. Afr. Med. J. 13:383-386, 1982.
-
(1982)
S. Afr. Med. J
, vol.13
, pp. 383-386
-
-
Kromberg, J.G.R.1
Jenkins, T.2
-
108
-
-
0024361911
-
Albinism and skin cancer in Southern Africa
-
Kromberg, J. G. R., D. Castle, E. M. Zwane, and T. Jenkins. Albinism and skin cancer in Southern Africa. Clin. Genet. 36:43-52, 1989.
-
(1989)
Clin. Genet
, vol.36
, pp. 43-52
-
-
Kromberg, J.G.R.1
Castle, D.2
Zwane, E.M.3
Jenkins, T.4
-
109
-
-
84907113438
-
Red or rufous albinism in Southern Africa
-
Kromberg, J. G. R., D. J. Castle, E. M. Zwane, J. Bothwell, S. Kidson, P. Bartel, J. I. Phillips, and T. Jenkins. Red or rufous albinism in Southern Africa. Ophthalmic Pediatr. Genet. 11:229-235, 1990.
-
(1990)
Ophthalmic Pediatr. Genet
, vol.11
, pp. 229-235
-
-
Kromberg, J.G.R.1
Castle, D.J.2
Zwane, E.M.3
Bothwell, J.4
Kidson, S.5
Bartel, P.6
Phillips, J.I.7
Jenkins, T.8
-
111
-
-
0028067984
-
Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)
-
Lee, S.-T., R. D. Nicholls, R. E. Schnur, L. C. Guida, J. Lu-Kuo, N. B. Spinner, E. H. Zackai, and R. A. Spritz. Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). Hum. Mol. Genet. 3:2047-2051, 1994.
-
(1994)
Hum. Mol. Genet
, vol.3
, pp. 2047-2051
-
-
Lee, S.-T.1
Nicholls, R.D.2
Schnur, R.E.3
Guida, L.C.4
Lu-Kuo, J.5
Spinner, N.B.6
Zackai, E.H.7
Spritz, R.A.8
-
112
-
-
0033774576
-
The underwhite (uw) locus acts autonomously and reduces the production of melanin
-
Lehman, A. L., W. K. Silvers, N. Puri, K. Wakamatsu, S. Ito, and M. H. Brilliant. The underwhite (uw) locus acts autonomously and reduces the production of melanin. J. Invest. Dermatol. 115:601-606, 2000.
-
(2000)
J. Invest. Dermatol
, vol.115
, pp. 601-606
-
-
Lehman, A.L.1
Silvers, W.K.2
Puri, N.3
Wakamatsu, K.4
Ito, S.5
Brilliant, M.H.6
-
113
-
-
0022344221
-
Abnormal visual pathways in normally pigmented cats that are heterozygous for albinism
-
Leventhal, A. G., D. J. Vitek, and D. J. Creel. Abnormal visual pathways in normally pigmented cats that are heterozygous for albinism. Science 229:1395-1397, 1985.
-
(1985)
Science
, vol.229
, pp. 1395-1397
-
-
Leventhal, A.G.1
Vitek, D.J.2
Creel, D.J.3
-
115
-
-
0033390217
-
The pink-eyed dilution gene and the molecular pathogenesis of tyrosinase-positive albinism (OCA2)
-
Manga, P., and S. J. Orlow. The pink-eyed dilution gene and the molecular pathogenesis of tyrosinase-positive albinism (OCA2). J. Dermatol. 26:738-747, 1999.
-
(1999)
J. Dermatol
, vol.26
, pp. 738-747
-
-
Manga, P.1
Orlow, S.J.2
-
116
-
-
4243274789
-
Brown oculocutaneous albinism is allelic to tyrosinase-positive oculocutaneous albinism in southern African negroids
-
Manga, P., M. Ramsay, J. Kromberg, and T. Jenkins. Brown oculocutaneous albinism is allelic to tyrosinase-positive oculocutaneous albinism in southern African negroids. Am. J. Hum. Genet. 55, A194, 1995.
-
(1995)
Am. J. Hum. Genet
, vol.55
-
-
Manga, P.1
Ramsay, M.2
Kromberg, J.3
Jenkins, T.4
-
117
-
-
0030828856
-
Rufous oculocutaneous albinism in southern African blacks is caused by mutations in the TYRP1 gene
-
Manga, P., J. G. Kromberg, N. F. Box, R. A. Sturm, T. Jenkins, and M. Ramsay. Rufous oculocutaneous albinism in southern African blacks is caused by mutations in the TYRP1 gene. Am. J. Hum. Genet. 61:1095-1101, 1997.
-
(1997)
Am. J. Hum. Genet
, vol.61
, pp. 1095-1101
-
-
Manga, P.1
Kromberg, J.G.2
Box, N.F.3
Sturm, R.A.4
Jenkins, T.5
Ramsay, M.6
-
118
-
-
0035092237
-
In southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified
-
Manga, P., J. G. R. Kromberg, A. Turner, T. Jenkins, and M. Ramsay. In southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified. Am. J. Hum. Genet. 68:782-787, 2001.
-
(2001)
Am. J. Hum. Genet
, vol.68
, pp. 782-787
-
-
Manga, P.1
Kromberg, J.G.R.2
Turner, A.3
Jenkins, T.4
Ramsay, M.5
-
119
-
-
0004107123
-
The Development of the Human Eye
-
New York: Grune and Stratton
-
Mann, I. The Development of the Human Eye. New York: Grune and Stratton, 1969.
-
(1969)
-
-
Mann, I.1
-
120
-
-
0033579833
-
Domains of regulatory gene expression and the developing optic chiasm: correspondence with retinal axon paths and candidate signaling cells
-
Marcus, R. C., K. Shimamura, D. Sretavan, E. Lai, J. L. Rubenstein, and C. A. Mason. Domains of regulatory gene expression and the developing optic chiasm: correspondence with retinal axon paths and candidate signaling cells. J. Comp. Neurol. 403:346-358, 1999.
-
(1999)
J. Comp. Neurol
, vol.403
, pp. 346-358
-
-
Marcus, R.C.1
Shimamura, K.2
Sretavan, D.3
Lai, E.4
Rubenstein, J.L.5
Mason, C.A.6
-
121
-
-
0030780920
-
Glia, neurons, and axon pathfind-ing during optic chiasm development (review)
-
Mason, C. A., and D. W. Sretavan. Glia, neurons, and axon pathfind-ing during optic chiasm development (review). Curr. Opin. Neuro-biol. 7:647-653, 1998.
-
(1998)
Curr. Opin. Neuro-biol
, vol.7
, pp. 647-653
-
-
Mason, C.A.1
Sretavan, D.W.2
-
122
-
-
84889630437
-
Sequence analysis of the human tyrosinase promoter from a patient with tyrosinase-negative oculocutaneous albinism
-
Matsunaga, J., M. Dakeishi, Y. Miyamura, and Y. Tomita. Sequence analysis of the human tyrosinase promoter from a patient with tyrosinase-negative oculocutaneous albinism. Pigment Cell Res. Suppl. 5:37-38, 1996.
-
(1996)
Pigment Cell Res. Suppl
, vol.5
, pp. 37-38
-
-
Matsunaga, J.1
Dakeishi, M.2
Miyamura, Y.3
Tomita, Y.4
-
123
-
-
0031930851
-
Sequence-based diagnosis of tyrosinase-related oculocutaneous albinism: successful sequence analysis of the tyrosinase gene from blood spots dried on filter paper
-
Matsunaga, J., M. Dakeishi-Hara, Y. Miyamura, E. Nakamura, M. Tanita, K. Satomura, and Y. Tomita. Sequence-based diagnosis of tyrosinase-related oculocutaneous albinism: successful sequence analysis of the tyrosinase gene from blood spots dried on filter paper. Dermatology 196:189-193, 1998.
-
(1998)
Dermatology
, vol.196
, pp. 189-193
-
-
Matsunaga, J.1
Dakeishi-Hara, M.2
Miyamura, Y.3
Nakamura, E.4
Tanita, M.5
Satomura, K.6
Tomita, Y.7
-
124
-
-
0032749582
-
A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype
-
Matsunaga, J., M. Dakeishi-Hara, M. Tanita, M. Nindl, Y. Nagata, E. Nakamura, Y. Miyamura, K. Kikuchi, M. Furue, and Y. Tomita. A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype. Dermatology 199:124-129, 1999.
-
(1999)
Dermatology
, vol.199
, pp. 124-129
-
-
Matsunaga, J.1
Dakeishi-Hara, M.2
Tanita, M.3
Nindl, M.4
Nagata, Y.5
Nakamura, E.6
Miyamura, Y.7
Kikuchi, K.8
Furue, M.9
Tomita, Y.10
-
125
-
-
4143080506
-
RGM and its receptor neogenin regulate neuronal survival
-
Matsunaga, E., S. Tauszig-Delamasure, P. P. Monnier, B. K. Mueller, S. M. Strittmatter, P. Mehlen, and A. Chedotal. RGM and its receptor neogenin regulate neuronal survival. Nature Cell Biol. 6:749-755, 2004.
-
(2004)
Nature Cell Biol
, vol.6
, pp. 749-755
-
-
Matsunaga, E.1
Tauszig-Delamasure, S.2
Monnier, P.P.3
Mueller, B.K.4
Strittmatter, S.M.5
Mehlen, P.6
Chedotal, A.7
-
126
-
-
82455202906
-
Albinism and unialbinism in twin African negroes
-
McCrackin, R. H. Albinism. Albinism and unialbinism in twin African negroes. Am. J. Dis. Child. 54:786-794, 1937.
-
(1937)
Am. J. Dis. Child
, vol.54
, pp. 786-794
-
-
McCrackin, R.1
Albinism, H.2
-
127
-
-
0030979154
-
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)
-
Morell, R., R. A. Spritz, L. Ho, J. Pierpoint, W. Guo, T. B. Friedman, and J. H. Asher. Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum. Mol. Genet. 6:659-664, 1997.
-
(1997)
Hum. Mol. Genet
, vol.6
, pp. 659-664
-
-
Morell, R.1
Spritz, R.A.2
Ho, L.3
Pierpoint, J.4
Guo, W.5
Friedman, T.B.6
Asher, J.H.7
-
128
-
-
0036221780
-
Abnormal visual projection in a human albino studied with functional magnetic resonance imaging and visual evoked potentials
-
Morland, A. B., M. B. Hoffmann, M. Neveu, and G. E. Holder. Abnormal visual projection in a human albino studied with functional magnetic resonance imaging and visual evoked potentials. J. Neurol. Neurosurg. Psychiat. 72:523-526, 2002.
-
(2002)
J. Neurol. Neurosurg. Psychiat
, vol.72
, pp. 523-526
-
-
Morland, A.B.1
Hoffmann, M.B.2
Neveu, M.3
Holder, G.E.4
-
129
-
-
34249918300
-
The p locus is closely linked to the mouse homolog of a gene from the Prader-Willi chromosomal region
-
Nakatsu, Y., Y. Gondo, and M. H. Brilliant. The p locus is closely linked to the mouse homolog of a gene from the Prader-Willi chromosomal region. Mamm. Genome 2:69-71, 1992.
-
(1992)
Mamm. Genome
, vol.2
, pp. 69-71
-
-
Nakatsu, Y.1
Gondo, Y.2
Brilliant, M.H.3
-
130
-
-
0014845934
-
Amish albinism: a distinctive autosomal recessive phenotype
-
Nance, W. E., C. E. Jackson, and C. J. Witkop. Amish albinism: a distinctive autosomal recessive phenotype. Am. J. Hum. Genet. 22:579-586, 1970.
-
(1970)
Am. J. Hum. Genet
, vol.22
, pp. 579-586
-
-
Nance, W.E.1
Jackson, C.E.2
Witkop, C.J.3
-
131
-
-
0242456082
-
Age-related changes in the dynamics of human albino visual pathways
-
Neveu, M. M., G. Jeffery, L. C. Burton, J. J. Sloper, and G. E. Holder. Age-related changes in the dynamics of human albino visual pathways. Eur. J. Neurosci. 18:1939-1949, 2003.
-
(2003)
Eur. J. Neurosci
, vol.18
, pp. 1939-1949
-
-
Neveu, M.M.1
Jeffery, G.2
Burton, L.C.3
Sloper, J.J.4
Holder, G.E.5
-
132
-
-
0034753365
-
Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4
-
Newton, J. M., O. Cohen-Barak, N. Hagiwara, J. M. Gardner, M. T. Davisson, R. A. King, and M. H. Brilliant. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am. J. Hum. Genet. 69:981-988, 2001.
-
(2001)
Am. J. Hum. Genet
, vol.69
, pp. 981-988
-
-
Newton, J.M.1
Cohen-Barak, O.2
Hagiwara, N.3
Gardner, J.M.4
Davisson, M.T.5
King, R.A.6
Brilliant, M.H.7
-
133
-
-
0017027276
-
X-linked ocular albinism: An oculocutaneous macromel-anosomal disorder
-
O'Donnell, F. E., G. W. Hambrick, W. R. Green, W. J. Iliff, and D. L. Stone. X-linked ocular albinism: An oculocutaneous macromel-anosomal disorder. Arch. Ophthalmol. 94:1883-1892, 1976.
-
(1976)
Arch. Ophthalmol
, vol.94
, pp. 1883-1892
-
-
O'Donnell, F.E.1
Hambrick, G.W.2
Green, W.R.3
Iliff, W.J.4
Stone, D.L.5
-
134
-
-
0017863350
-
X-linked ocular albinism in blacks
-
a
-
O'Donnell, F. E., W. R. Green, J. A. Fleischman, and G. W. Hambrick. X-linked ocular albinism in blacks. Arch. Ophthalmol. 96: 1189-1192, 1978 a.
-
(1978)
Arch. Ophthalmol
, vol.96
, pp. 1189-1192
-
-
O'Donnell, F.E.1
Green, W.R.2
Fleischman, J.A.3
Hambrick, G.W.4
-
135
-
-
0017826072
-
Autosomal recessively inherited ocular albinism: A new form of ocular albinism affecting females as severely as males
-
b
-
O'Donnell, F. E., R. A. King, W. R. Green, and C. J. Witkop. Autosomal recessively inherited ocular albinism: A new form of ocular albinism affecting females as severely as males. Arch. Ophthalmol. 96:1621-1625, 1978 b.
-
(1978)
Arch. Ophthalmol
, vol.96
, pp. 1621-1625
-
-
O'Donnell, F.E.1
King, R.A.2
Green, W.R.3
Witkop, C.J.4
-
136
-
-
0026564965
-
Molecular analysis of Type I-A (tyrosinase-negative) oculocutaneous albinism
-
Oetting, W. S., and R. A. King. Molecular analysis of Type I-A (tyrosinase-negative) oculocutaneous albinism. Hum. Genet. 90: 258-262, 1992.
-
(1992)
Hum. Genet
, vol.90
, pp. 258-262
-
-
Oetting, W.S.1
King, R.A.2
-
137
-
-
0027531665
-
Molecular basis of type 1 (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene
-
Oetting, W. S., and R. A. King. Molecular basis of type 1 (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene. Hum. Mutat. 2:1-6, 1993.
-
(1993)
Hum. Mutat
, vol.2
, pp. 1-6
-
-
Oetting, W.S.1
King, R.A.2
-
138
-
-
0032913013
-
Molecular basis of albinism: mutations and polymorphisms of pigment genes associated with albinism
-
Oetting, W. S., and R. A. King. Molecular basis of albinism: mutations and polymorphisms of pigment genes associated with albinism. Hum. Mutat. 13:99-115, 1999.
-
(1999)
Hum. Mutat
, vol.13
, pp. 99-115
-
-
Oetting, W.S.1
King, R.A.2
-
139
-
-
0025801878
-
Molecular analysis of an extended family with type IA (tyrosinase-negative) oculocutaneous albinism
-
a
-
Oetting, W. S., H. Y. Handoko, M. M. Mentink, A. S. Paller, J. G. White, and R. A. King. Molecular analysis of an extended family with type IA (tyrosinase-negative) oculocutaneous albinism. J. Invest. Dermatol. 97:15-19, 1991 a.
-
(1991)
J. Invest. Dermatol
, vol.97
, pp. 15-19
-
-
Oetting, W.S.1
Handoko, H.Y.2
Mentink, M.M.3
Paller, A.S.4
White, J.G.5
King, R.A.6
-
140
-
-
0025788758
-
Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism
-
b
-
Oetting, W. S., M. M. Mentink, C. G. Summers, R. A. Lewis, J. G. White, and R. A. King. Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism. Am. J. Hum. Genet. 49:199-206, 1991 b.
-
(1991)
Am. J. Hum. Genet
, vol.49
, pp. 199-206
-
-
Oetting, W.S.1
Mentink, M.M.2
Summers, C.G.3
Lewis, R.A.4
White, J.G.5
King, R.A.6
-
141
-
-
0027478888
-
A frequent mutation in the tyrosinase gene associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico
-
Oetting, W. S., C. J. Witkop, S. A. Brown, R. Colomer, J. P. Fryer, K. E. Bloom, and R. A. King. A frequent mutation in the tyrosinase gene associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. Am. J. Hum. Genet. 52:17-23, 1993.
-
(1993)
Am. J. Hum. Genet
, vol.52
, pp. 17-23
-
-
Oetting, W.S.1
Witkop, C.J.2
Brown, S.A.3
Colomer, R.4
Fryer, J.P.5
Bloom, K.E.6
King, R.A.7
-
142
-
-
0028268129
-
Analysis of tyrosinase gene mutations using direct automated infrared fluorescence DNA sequencing of amplified exons
-
Oetting, W. S., J. P. Fryer, Y. Oofuji, L. R. Middendorf, J. A. Brumbaugh, C. G. Summers, and R. A. King. Analysis of tyrosinase gene mutations using direct automated infrared fluorescence DNA sequencing of amplified exons. Electrophoresis 15:159-164, 1994.
-
(1994)
Electrophoresis
, vol.15
, pp. 159-164
-
-
Oetting, W.S.1
Fryer, J.P.2
Oofuji, Y.3
Middendorf, L.R.4
Brumbaugh, J.A.5
Summers, C.G.6
King, R.A.7
-
143
-
-
0007986858
-
Unusual tyrosinase mutations associated with OCA1
-
Oetting, W. S., W. Skach, J. P. Fryer, and R. A. King. Unusual tyrosinase mutations associated with OCA1. Am. J. Hum. Genet. 53:935, 1995.
-
(1995)
Am. J. Hum. Genet
, vol.53
, pp. 935
-
-
Oetting, W.S.1
Skach, W.2
Fryer, J.P.3
King, R.A.4
-
144
-
-
17344369131
-
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity
-
Oh, J., L. Ho, S. Ala-Mello, D. Amato, L. Armstrong, S. Bellucci, G. Carakushansky, J. P. Ellis, C.-T. Fong, J. S. Green, E. Heon, E. Legius, A. V. Levin, H. K. Nieuwenhuis, A. Pinckers, N. Tamura, M. L. Whiteford, H. Yamasaki, and R. A. Spritz. Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am. J. Hum. Genet. 62:593-598, 1998.
-
(1998)
Am. J. Hum. Genet
, vol.62
, pp. 593-598
-
-
Oh, J.1
Ho, L.2
Ala-Mello, S.3
Amato, D.4
Armstrong, L.5
Bellucci, S.6
Carakushansky, G.7
Ellis, J.P.8
Fong, C.-T.9
Green, J.S.10
Heon, E.11
Legius, E.12
Levin, A.V.13
Nieuwenhuis, H.K.14
Pinckers, A.15
Tamura, N.16
Whiteford, M.L.17
Yamasaki, H.18
Spritz, R.A.19
-
145
-
-
1642331639
-
New method for detecting misrouted retinofugal fibers in humans with albinism by magnetoencephalo-graphy
-
Ohde, H., K. Shinoda, T. Nishiyama, H. Kado, Y. Haruta, Y. Mashima, and Y. Oguchi. New method for detecting misrouted retinofugal fibers in humans with albinism by magnetoencephalo-graphy. Vision Res. 44:1033-1038, 2004.
-
(2004)
Vision Res
, vol.44
, pp. 1033-1038
-
-
Ohde, H.1
Shinoda, K.2
Nishiyama, T.3
Kado, H.4
Haruta, Y.5
Mashima, Y.6
Oguchi, Y.7
-
146
-
-
0016500926
-
Albinism in Nigeria: a clinical and social study
-
Okoro, A. N. Albinism in Nigeria: a clinical and social study. Br. J. Dermatol. 92:485-492, 1975.
-
(1975)
Br. J. Dermatol
, vol.92
, pp. 485-492
-
-
Okoro, A.N.1
-
147
-
-
4544275288
-
Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism
-
Opitz, S., B. Kasmann-Kellner, M. Kaufmann, E. Schwinger, and C. Zuhlke. Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism. Hum. Mutat. 23:630-631, 2004.
-
(2004)
Hum. Mutat
, vol.23
, pp. 630-631
-
-
Opitz, S.1
Kasmann-Kellner, B.2
Kaufmann, M.3
Schwinger, E.4
Zuhlke, C.5
-
148
-
-
0033083648
-
The pink-eyed dilution locus controls the biogenesis of melanosomes and levels of melanosomal proteins in the eye
-
Orlow, S. J., and M. H. Brilliant. The pink-eyed dilution locus controls the biogenesis of melanosomes and levels of melanosomal proteins in the eye. Exp. Eye Res. 68:147-154, 1999.
-
(1999)
Exp. Eye Res
, vol.68
, pp. 147-154
-
-
Orlow, S.J.1
Brilliant, M.H.2
-
149
-
-
0002099639
-
Prenatal development of the eye and its adnexa
-
In:, T. D. Duane, and E. A. Jaeger (eds). Hagerstown: Harper and Row
-
Ozanics, V., and F. A. Jakobiec. Prenatal development of the eye and its adnexa. In: Biomedical Foundations of Ophthalmology, T. D. Duane, and E. A. Jaeger (eds). Hagerstown: Harper and Row, 1986.
-
(1986)
Biomedical Foundations of Ophthalmology
-
-
Ozanics, V.1
Jakobiec, F.A.2
-
150
-
-
0027416538
-
Molecular analyses of a tyrosinase-negative albino family
-
Park, K. C., C. D. Chintamaneni, R. Halaban, C. J. Witkop, and B. S. Kwon. Molecular analyses of a tyrosinase-negative albino family. Am. J. Hum. Genet. 52:406-413, 1993.
-
(1993)
Am. J. Hum. Genet
, vol.52
, pp. 406-413
-
-
Park, K.C.1
Chintamaneni, C.D.2
Halaban, R.3
Witkop, C.J.4
Kwon, B.S.5
-
151
-
-
0031591050
-
Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism
-
Park, S.-K., K.-H. Lee, K.-C. Park, J.-S. Lee, R. A. Spritz, and S.-T. Lee. Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism. Mol. Cells 7:187-191, 1997.
-
(1997)
Mol. Cells
, vol.7
, pp. 187-191
-
-
Park, S.-K.1
Lee, K.-H.2
Park, K.-C.3
Lee, J.-S.4
Spritz, R.A.5
Lee, S.-T.6
-
152
-
-
0032881771
-
Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population
-
Passmore, L. A., B. Kaesmann-Kellner, and B. H. Weber. Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. Hum. Genet. 105:200-210, 1999.
-
(1999)
Hum. Genet
, vol.105
, pp. 200-210
-
-
Passmore, L.A.1
Kaesmann-Kellner, B.2
Weber, B.H.3
-
153
-
-
0038504327
-
A Monograph on Albinism in Man: Drapers' Company Research Memoirs, Biometric Series VI
-
London: Department of Applied Mathematics, Dulau and Co., Ltd
-
Pearson, K., E. Nettleship, and C. H. Usher. A Monograph on Albinism in Man: Drapers' Company Research Memoirs, Biometric Series VI. London: Department of Applied Mathematics, Dulau and Co., Ltd, 1911.
-
(1911)
-
-
Pearson, K.1
Nettleship, E.2
Usher, C.H.3
-
154
-
-
0026754735
-
Vision defects in albinism
-
Perez-Carpinell, J., P. Capilla, C. Illueca, and J. Morales. Vision defects in albinism. Optom. Vis. Sci. 8:623-628, 1992.
-
(1992)
Optom. Vis. Sci
, vol.8
, pp. 623-628
-
-
Perez-Carpinell, J.1
Capilla, P.2
Illueca, C.3
Morales, J.4
-
155
-
-
0042326667
-
Pigment-epithelium-derived factor (PEDF) occurs at a physiologically relevant concentration in human blood: purification and characterization
-
Petersen, S. V., Z. Valnickova, and J. J. Enghild. Pigment-epithelium-derived factor (PEDF) occurs at a physiologically relevant concentration in human blood: purification and characterization. Biochem. J. 374(Pt 1): 199-206, 2003.
-
(2003)
Biochem. J
, vol.374
, Issue.PT. 1
, pp. 199-206
-
-
Petersen, S.V.1
Valnickova, Z.2
Enghild, J.J.3
-
157
-
-
0034846465
-
Deletion in the OA1 gene in a family with congenital X linked nystagmus
-
Preising, M., J. P. Op de Laak, and B. Lorenz. Deletion in the OA1 gene in a family with congenital X linked nystagmus. Br. J. Ophthalmol. 85:1098-1103, 2001.
-
(2001)
Br. J. Ophthalmol
, vol.85
, pp. 1098-1103
-
-
Preising, M.1
Op De Laak, J.P.2
Lorenz, B.3
-
158
-
-
0033778117
-
Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes
-
Puri, N., J. M. Gardner, and M. H. Brilliant. Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes. J. Invest. Dermatol. 115:607-613, 2000.
-
(2000)
J. Invest. Dermatol
, vol.115
, pp. 607-613
-
-
Puri, N.1
Gardner, J.M.2
Brilliant, M.H.3
-
159
-
-
0036617155
-
Spatiotemporal features of early neuronogenesis differ in wild-type and albino mouse retina
-
a
-
Rachel, R. A., G. Dolen, N. L. Hayes, A. Lu, L. Erskine, R. S. Nowakowski, and C. A. Mason. Spatiotemporal features of early neuronogenesis differ in wild-type and albino mouse retina. J. Neu-rosci. 22:4249-4263, 2002 a.
-
(2002)
J. Neu-rosci
, vol.22
, pp. 4249-4263
-
-
Rachel, R.A.1
Dolen, G.2
Hayes, N.L.3
Lu, A.4
Erskine, L.5
Nowakowski, R.S.6
Mason, C.A.7
-
160
-
-
0035989952
-
Influence of tyrosinase levels on pigment accumulation in the retinal pigment epithelium and on the uncrossed retinal projection
-
b
-
Rachel, R. A., C. A. Mason, and F. Beermann. Influence of tyrosinase levels on pigment accumulation in the retinal pigment epithelium and on the uncrossed retinal projection. Pigment Cell Res. 15:273-281, 2002 b.
-
(2002)
Pigment Cell Res
, vol.15
, pp. 273-281
-
-
Rachel, R.A.1
Mason, C.A.2
Beermann, F.3
-
161
-
-
0026687861
-
The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12
-
Ramsay, M., M. A. Colman, G. Stevens, E. Zwane J. Kromberg, M. Farrah, and T. Jenkins. The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. Am. J. Hum. Genet. 51:879-884, 1992.
-
(1992)
Am. J. Hum. Genet
, vol.51
, pp. 879-884
-
-
Ramsay, M.1
Colman, M.A.2
Stevens, G.3
Zwane, E.4
Kromberg, J.5
Farrah, M.6
Jenkins, T.7
-
162
-
-
0029410697
-
The retinal pigmented epithelium is required for development and maintenance of the mouse neural retina
-
Raymond, S. M., and I. J. Jackson. The retinal pigmented epithelium is required for development and maintenance of the mouse neural retina. Curr. Biol. 5:1286-1295, 1995.
-
(1995)
Curr. Biol
, vol.5
, pp. 1286-1295
-
-
Raymond, S.M.1
Jackson, I.J.2
-
163
-
-
0032714686
-
Extrinsic modulation of retinal ganglion cell projections: analysis of the albino mutation in pigmentation mosaic mice
-
Rice, D. S., D. Goldowitz, R. W. Williams, K. Hamre, P. T. Johnson, S. S. Tan, and B. E. Reese. Extrinsic modulation of retinal ganglion cell projections: analysis of the albino mutation in pigmentation mosaic mice. Dev. Biol. 216:41-56, 1999.
-
(1999)
Dev. Biol
, vol.216
, pp. 41-56
-
-
Rice, D.S.1
Goldowitz, D.2
Williams, R.W.3
Hamre, K.4
Johnson, P.T.5
Tan, S.S.6
Reese, B.E.7
-
164
-
-
84915190127
-
Iris
-
In:, T. D. Duane, and E. A. Jaeger (eds). New York: Harper & Row
-
Rodrigues, M. M., J. Hackett, and P. Donohoo. Iris. In: Biomedical Foundations of Ophthalmology. T. D. Duane, and E. A. Jaeger (eds). New York: Harper & Row, 1986, pp. 1-18.
-
(1986)
Biomedical Foundations of Ophthalmology
, pp. 1-18
-
-
Rodrigues, M.M.1
Hackett, J.2
Donohoo, P.3
-
165
-
-
1042299964
-
Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4
-
Rundshagen, U., C. Zuhlke, S. Opitz, E. Schwinger, and B. Kasmann-Kellner. Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. Hum. Mutat. 23:106-110, 2004.
-
(2004)
Hum. Mutat
, vol.23
, pp. 106-110
-
-
Rundshagen, U.1
Zuhlke, C.2
Opitz, S.3
Schwinger, E.4
Kasmann-Kellner, B.5
-
166
-
-
0034017934
-
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome (letter)
-
Saitoh, S., N. Oiso, T. Wada, O. Narazaki, and K. Fukai. Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome (letter). J. Med. Genet. 37:392-394, 2000.
-
(2000)
J. Med. Genet
, vol.37
, pp. 392-394
-
-
Saitoh, S.1
Oiso, N.2
Wada, T.3
Narazaki, O.4
Fukai, K.5
-
167
-
-
0028932987
-
Vessel formation by choroidal endothelial cells in vitro is modulated by retinal pigment epithelial cells
-
Sakamoto, T., H. Sakamoto, T. L. Murphy, C. Spee, D. Soriano, T. Ishibashi, D. R. Hinton, and S. J. Ryan. Vessel formation by choroidal endothelial cells in vitro is modulated by retinal pigment epithelial cells. Arch. Ophthalmol. 113:512-520, 1995.
-
(1995)
Arch. Ophthalmol
, vol.113
, pp. 512-520
-
-
Sakamoto, T.1
Sakamoto, H.2
Murphy, T.L.3
Spee, C.4
Soriano, D.5
Ishibashi, T.6
Hinton, D.R.7
Ryan, S.J.8
-
168
-
-
0036000330
-
Effective retrovirus-mediated gene transfer in normal and mutant human melanocytes
-
Schiaffino, M. V., E. Dellambra, K. Cortese, C. Baschirotto, S. Bondanza, M. Clementi, P. Nucci, A. Ballabio, C. Tacchetti, and M. De Luca. Effective retrovirus-mediated gene transfer in normal and mutant human melanocytes. Hum. Gene Ther. 13:947-957, 2002.
-
(2002)
Hum. Gene Ther
, vol.13
, pp. 947-957
-
-
Schiaffino, M.V.1
Dellambra, E.2
Cortese, K.3
Baschirotto, C.4
Bondanza, S.5
Clementi, M.6
Nucci, P.7
Ballabio, A.8
Tacchetti, C.9
De Luca, M.10
-
169
-
-
84889628386
-
Mutations of the P and MC1R genes produce OCA2 with red hair
-
Schmidt, R. M., R. A. King, R. K. Willaert, J. Pietsch, S. Savage, M. J. Brott, J. P. Fryer, C. G. Summers, and W. S. Oetting. Mutations of the P and MC1R genes produce OCA2 with red hair. Am. J. Hum. Genet. 69:608, 2001.
-
(2001)
Am. J. Hum. Genet
, vol.69
, pp. 608
-
-
Schmidt, R.M.1
King, R.A.2
Willaert, R.K.3
Pietsch, J.4
Savage, S.5
Brott, M.J.6
Fryer, J.P.7
Summers, C.G.8
Oetting, W.S.9
-
170
-
-
4444300737
-
Monocular visual activation patterns in albinism as revealed by functional magnetic resonance imaging
-
Schmitz, B., B. Kasmann-Kellner, T. Schafer, C. M. Krick, G. Gron, M. Backens, and W. Reith. Monocular visual activation patterns in albinism as revealed by functional magnetic resonance imaging. Hum. Brain Mapp. 23:40-52, 2004.
-
(2004)
Hum. Brain Mapp
, vol.23
, pp. 40-52
-
-
Schmitz, B.1
Kasmann-Kellner, B.2
Schafer, T.3
Krick, C.M.4
Gron, G.5
Backens, M.6
Reith, W.7
-
171
-
-
0025970324
-
Linkage analysis in X-linked ocular albinism
-
Schnur, R. E., R. L. Nussbaum, L. Anson-Cartwright, C. McDowell, R. G. Worton, and M. A. Musarella. Linkage analysis in X-linked ocular albinism. Genomics 9:605-613, 1991.
-
(1991)
Genomics
, vol.9
, pp. 605-613
-
-
Schnur, R.E.1
Nussbaum, R.L.2
Anson-Cartwright, L.3
McDowell, C.4
Worton, R.G.5
Musarella, M.A.6
-
172
-
-
0027963470
-
Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes
-
Schnur, R. E., P. A. Wick, C. Bailey, T. Rebbeck, R. G. Weleber, J. Wagstaff, A. W. Grix, R. A. Pagon, A. Hockey, and M. J. Edwards. Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes. Am. J. Hum. Genet. 55:484-496, 1994.
-
(1994)
Am. J. Hum. Genet
, vol.55
, pp. 484-496
-
-
Schnur, R.E.1
Wick, P.A.2
Bailey, C.3
Rebbeck, T.4
Weleber, R.G.5
Wagstaff, J.6
Grix, A.W.7
Pagon, R.A.8
Hockey, A.9
Edwards, M.J.10
-
173
-
-
0029972105
-
Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene
-
Schnur, R. E., B. T. Selling, S. A. Holmes, P. A. Wick, Y. O. Tatsumura, and R. A. Spritz. Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene. J. Invest. Dermatol. 106:1137-1140, 1996.
-
(1996)
J. Invest. Dermatol
, vol.106
, pp. 1137-1140
-
-
Schnur, R.E.1
Selling, B.T.2
Holmes, S.A.3
Wick, P.A.4
Tatsumura, Y.O.5
Spritz, R.A.6
-
174
-
-
0033174543
-
Current understanding on the role of retinal pigment epithelium and its pigmentation
-
Schraermeyer, U., and K. Heimann. Current understanding on the role of retinal pigment epithelium and its pigmentation. Pigment Cell Res. 12:219-236, 1999.
-
(1999)
Pigment Cell Res
, vol.12
, pp. 219-236
-
-
Schraermeyer, U.1
Heimann, K.2
-
175
-
-
0027462442
-
Visual evoked response asymmetry only in the albino member of a family with congenital nystagmus
-
Shallo-Hoffmann, J., and P. Apkarian. Visual evoked response asymmetry only in the albino member of a family with congenital nystagmus. Invest. Ophthalmol. Vis. Sci. 34:682-689, 1993.
-
(1993)
Invest. Ophthalmol. Vis. Sci
, vol.34
, pp. 682-689
-
-
Shallo-Hoffmann, J.1
Apkarian, P.2
-
176
-
-
0032540259
-
RPE secreted proteins and antibody influence photoreceptor cell survival and maturation
-
Sheedlo, H. J., T. H. Nelson, N. Lin, T. A. Rogers, R. S. Roque, and J. E. Turner. RPE secreted proteins and antibody influence photoreceptor cell survival and maturation. Brain Res. Dev. Brain Res. 107:57-69, 1998.
-
(1998)
Brain Res. Dev. Brain Res
, vol.107
, pp. 57-69
-
-
Sheedlo, H.J.1
Nelson, T.H.2
Lin, N.3
Rogers, T.A.4
Roque, R.S.5
Turner, J.E.6
-
177
-
-
0035971919
-
Rat retinal progenitor cells and a retinal pigment epithelial factor
-
Sheedlo, H. J., A. M. Brun-Zinkernagel, L. X. Oakford, and R. S. Roque. Rat retinal progenitor cells and a retinal pigment epithelial factor. Brain Res. Dev. Brain Res. 127:185-187, 2001.
-
(2001)
Brain Res. Dev. Brain Res
, vol.127
, pp. 185-187
-
-
Sheedlo, H.J.1
Brun-Zinkernagel, A.M.2
Oakford, L.X.3
Roque, R.S.4
-
178
-
-
0036785879
-
Age-related changes underlie switch in netrin-1 responsiveness as growth cones advance along visual pathway
-
Shewan, D., A. Dwivedy, R. Anderson, and C. E. Holt. Age-related changes underlie switch in netrin-1 responsiveness as growth cones advance along visual pathway. Nature Neurosci. 5:955-962, 2002.
-
(2002)
Nature Neurosci
, vol.5
, pp. 955-962
-
-
Shewan, D.1
Dwivedy, A.2
Anderson, R.3
Holt, C.E.4
-
179
-
-
0028915146
-
X linked ocular albinism in Japanese patients
-
Shiono, T., M. Tsunoda, Y. Chida, M. Nakazawa, and M. Tamai. X linked ocular albinism in Japanese patients. Br. J. Ophthalmol. 79:139-143, 1995.
-
(1995)
Br. J. Ophthalmol
, vol.79
, pp. 139-143
-
-
Shiono, T.1
Tsunoda, M.2
Chida, Y.3
Nakazawa, M.4
Tamai, M.5
-
180
-
-
0003905392
-
The Coat Colors of Mice. A Model for Mammalian Gene Action and Interaction
-
New York: Springer-Verlag
-
Silvers, W. K. The Coat Colors of Mice. A Model for Mammalian Gene Action and Interaction. New York: Springer-Verlag, 1979.
-
(1979)
-
-
Silvers, W.K.1
-
181
-
-
0034293258
-
Comparison of techniques for detecting visually evoked potential asymmetry in albinism
-
Soong, F., A. V. Levin, and C. A. Westall. Comparison of techniques for detecting visually evoked potential asymmetry in albinism. J. Am. Assoc. Pediatr. Ophthalmol. Strabismus 4:302-310, 2000.
-
(2000)
J. Am. Assoc. Pediatr. Ophthalmol. Strabismus
, vol.4
, pp. 302-310
-
-
Soong, F.1
Levin, A.V.2
Westall, C.A.3
-
182
-
-
0017588644
-
Two unpublished essays on anthropology of North America by Benjamin Smith Barton
-
Spencer, F. Two unpublished essays on anthropology of North America by Benjamin Smith Barton. Isis 68:567-573, 1977.
-
(1977)
Isis
, vol.68
, pp. 567-573
-
-
Spencer, F.1
-
183
-
-
0031964940
-
Piebaldism with deafness: molecular evidence for an expanded syndrome
-
Spritz, R. A., and P. Beighton. Piebaldism with deafness: molecular evidence for an expanded syndrome. Am. J. Med. Genet. 75:101-103, 1998.
-
(1998)
Am. J. Med. Genet
, vol.75
, pp. 101-103
-
-
Spritz, R.A.1
Beighton, P.2
-
184
-
-
0025294461
-
Detection of mutations in the tyrosinase gene in a patient with Type IA oculocutaneous albinism
-
Spritz, R. A., K. M. Strunk, L. B. Giebel, and R. A. King. Detection of mutations in the tyrosinase gene in a patient with Type IA oculocutaneous albinism. N. Engl. J. Med. 322:1724-1728, 1990.
-
(1990)
N. Engl. J. Med
, vol.322
, pp. 1724-1728
-
-
Spritz, R.A.1
Strunk, K.M.2
Giebel, L.B.3
King, R.A.4
-
185
-
-
0026081677
-
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism
-
Spritz, R. A., K. M. Strunk, C. L. Hsieh, G. S. Sekhon, and U. Francke. Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. Am. J. Hum. Genet. 48:318-324, 1991.
-
(1991)
Am. J. Hum. Genet
, vol.48
, pp. 318-324
-
-
Spritz, R.A.1
Strunk, K.M.2
Hsieh, C.L.3
Sekhon, G.S.4
Francke, U.5
-
186
-
-
0029004012
-
Frequent intragenic deletion of the P gene in Tanzanian patients with Type II ocu-locutanoeus albinism (OCA2)
-
Spritz, R. A., K. Fukai, S. A. Holmes, and J. Luande. Frequent intragenic deletion of the P gene in Tanzanian patients with Type II ocu-locutanoeus albinism (OCA2). Am. J. Hum. Genet. 56:1320-1323, 1995.
-
(1995)
Am. J. Hum. Genet
, vol.56
, pp. 1320-1323
-
-
Spritz, R.A.1
Fukai, K.2
Holmes, S.A.3
Luande, J.4
-
187
-
-
16944363238
-
Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism
-
a
-
Spritz, R. A., J. Oh, K. Fukai, S. A. Holmes, L. Ho, D. Chitayat, T. D. Frabce, M. A. Musarella, S. J. Orlow, R. E. Schnur, R. G. Weleber, and A. V. Levin. Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism. Hum. Mutat. 10:171-174, 1997 a.
-
(1997)
Hum. Mutat
, vol.10
, pp. 171-174
-
-
Spritz, R.A.1
Oh, J.2
Fukai, K.3
Holmes, S.A.4
Ho, L.5
Chitayat, D.6
Frabce, T.D.7
Musarella, M.A.8
Orlow, S.J.9
Schnur, R.E.10
Weleber, R.G.11
Levin, A.V.12
-
188
-
-
0030749392
-
Mutational analysis of copper binding by human tyrosinase
-
b
-
Spritz, R. A., L. Ho, M. Furumura, and V. J. Hearing. Mutational analysis of copper binding by human tyrosinase. J. Invest. Dermatol. 109:207-212, 1997 b.
-
(1997)
J. Invest. Dermatol
, vol.109
, pp. 207-212
-
-
Spritz, R.A.1
Ho, L.2
Furumura, M.3
Hearing, V.J.4
-
189
-
-
0030790959
-
Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)
-
c
-
Spritz, R. A., S.-T. Lee, K. Fukai, K. Brondum-Nielsen, D. Chitayat, M. H. Lipson, M. A. Musarella, A. Rosenmann, and R. G. Weleber. Novel mutations of the P gene in type II oculocutaneous albinism (OCA2). Hum. Mutat. 10:175-177, 1997 c.
-
(1997)
Hum. Mutat
, vol.10
, pp. 175-177
-
-
Spritz, R.A.1
Lee, S.-T.2
Fukai, K.3
Brondum-Nielsen, K.4
Chitayat, D.5
Lipson, M.H.6
Musarella, M.A.7
Rosenmann, A.8
Weleber, R.G.9
-
190
-
-
0000683067
-
Anomalies of pigmentation among natives of Nyasa-land: a contribution to the study of albinism
-
Stannus, H. S. Anomalies of pigmentation among natives of Nyasa-land: a contribution to the study of albinism. Biometrika 9:333-365, 1913.
-
(1913)
Biometrika
, vol.9
, pp. 333-365
-
-
Stannus, H.S.1
-
191
-
-
0004189152
-
Principles of Human Genetics
-
3rd edn. San Francisco: W.H. Freeman and Co.
-
Stern, C. Principles of Human Genetics, 3rd edn. San Francisco: W.H. Freeman and Co., 1973.
-
(1973)
-
-
Stern, C.1
-
192
-
-
0025817679
-
Variable expression of vision in sibs with albinism
-
Summers, C. G., D. J. Creel, D. Townsend, and R. A. King. Variable expression of vision in sibs with albinism. Am. J. Med. Genet. 40:327-331, 1991.
-
(1991)
Am. J. Med. Genet
, vol.40
, pp. 327-331
-
-
Summers, C.G.1
Creel, D.J.2
Townsend, D.3
King, R.A.4
-
193
-
-
0029984965
-
Diagnosis of oculocutaneous albinism with molecular analysis
-
Summers, C. G., W. S. Oetting, and R. A. King. Diagnosis of oculocutaneous albinism with molecular analysis. Am. J. Ophthalmol. 121:724-726, 1996.
-
(1996)
Am. J. Ophthalmol
, vol.121
, pp. 724-726
-
-
Summers, C.G.1
Oetting, W.S.2
King, R.A.3
-
194
-
-
0037541343
-
High frequency of the Ala481Thr mutation of the P gene in the Japanese population (letter)
-
Suzuki, T., Y. Miyamura, and Y. Tomita. High frequency of the Ala481Thr mutation of the P gene in the Japanese population (letter). Am. J. Med. Genet. 118 A: 402-403, 2003.
-
(2003)
Am. J. Med. Genet
, vol.118 A
, pp. 402-403
-
-
Suzuki, T.1
Miyamura, Y.2
Tomita, Y.3
-
195
-
-
0031026542
-
Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences
-
Sviderskaya, E. V., D. C. Bennett, L. Ho, T. Bailin, S.-T. Lee, and R. A. Spritz. Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences. J. Invest. Dermatol. 108:30-34, 1997.
-
(1997)
J. Invest. Dermatol
, vol.108
, pp. 30-34
-
-
Sviderskaya, E.V.1
Bennett, D.C.2
Ho, L.3
Bailin, T.4
Lee, S.-T.5
Spritz, R.A.6
-
196
-
-
0031797078
-
A new allelic series for the underwhite gene on mouse chromosome 15
-
Sweet, H. O., M. H. Brilliant, S. A. Cook, K. R. Johnson, and M. T. Davisson. A new allelic series for the underwhite gene on mouse chromosome 15. J. Hered. 89:546-551, 1998.
-
(1998)
J. Hered
, vol.89
, pp. 546-551
-
-
Sweet, H.O.1
Brilliant, M.H.2
Cook, S.A.3
Johnson, K.R.4
Davisson, M.T.5
-
197
-
-
2342434423
-
Ocular albinism with sensorineural deafness
-
Tak, W. J., M. N. Kim, C. K. Hong, B. I. Ro, K. Y. Song, and S. J. Seo. Ocular albinism with sensorineural deafness. Int. J. Dermatol. 43:290-292, 2004.
-
(2004)
Int. J. Dermatol
, vol.43
, pp. 290-292
-
-
Tak, W.J.1
Kim, M.N.2
Hong, C.K.3
Ro, B.I.4
Song, K.Y.5
Seo, S.J.6
-
198
-
-
0025008433
-
Molecular basis of tyrosinase-negative oculocutaneous albinism. A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59
-
Takeda, A., Y. Tomita, J. Matsunaga, H. Tagami, and S. Shibahara. Molecular basis of tyrosinase-negative oculocutaneous albinism. A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59. J. Biol. Chem. 265:17792-17797, 1990.
-
(1990)
J. Biol. Chem
, vol.265
, pp. 17792-17797
-
-
Takeda, A.1
Tomita, Y.2
Matsunaga, J.3
Tagami, H.4
Shibahara, S.5
-
199
-
-
0018046312
-
Visual disabilities of oculocutaneous albinism and their alleviation
-
Taylor, W. O. G. Visual disabilities of oculocutaneous albinism and their alleviation. Trans. Ophthalmol. Soc. UK 98:423-445, 1978.
-
(1978)
Trans. Ophthalmol. Soc. UK
, vol.98
, pp. 423-445
-
-
Taylor, W.O.G.1
-
200
-
-
1242272912
-
The orientation and dynamics of cell division within the plane of the developing vertebrate retina
-
Tibber, M. S., I. Kralj-Hans, J. Savage, P. G. Mobbs, and G. Jeffery. The orientation and dynamics of cell division within the plane of the developing vertebrate retina. Eur. J. Neurosci. 19:497-504, 2004.
-
(2004)
Eur. J. Neurosci
, vol.19
, pp. 497-504
-
-
Tibber, M.S.1
Kralj-Hans, I.2
Savage, J.3
Mobbs, P.G.4
Jeffery, G.5
-
201
-
-
0027417524
-
Tyrosinase gene mutations causing oculocutaneous albinism
-
Tomita, Y. Tyrosinase gene mutations causing oculocutaneous albinism. J. Invest. Dermatol. 100(Suppl.):186S-190S, 1993.
-
(1993)
J. Invest. Dermatol
, vol.100
, Issue.SUPPL..
-
-
Tomita, Y.1
-
202
-
-
0024433692
-
Human oculocutaneous albinism caused by a single base insertion in the tyrosinase gene
-
Tomita, Y., A. Takeda, S. Okinaga, H. Tagami, and S. Shibahara. Human oculocutaneous albinism caused by a single base insertion in the tyrosinase gene. Biochem. Biophys. Res. Commun. 164: 990-996, 1989.
-
(1989)
Biochem. Biophys. Res. Commun
, vol.164
, pp. 990-996
-
-
Tomita, Y.1
Takeda, A.2
Okinaga, S.3
Tagami, H.4
Shibahara, S.5
-
203
-
-
0035871219
-
The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation
-
a
-
Toyofuku, K., I. Wada, R. A. Spritz, and V. J. Hearing. The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. Biochem. J. 355 (Pt 2):259-269, 2001 a.
-
(2001)
Biochem. J
, vol.355
, Issue.PT. 2
, pp. 259-269
-
-
Toyofuku, K.1
Wada, I.2
Spritz, R.A.3
Hearing, V.J.4
-
204
-
-
0034806114
-
Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins
-
b
-
Toyofuku, K., I. Wada, J. C. Valencia, T. Kushimoto, V. J. Ferrans, and V. J. Hearing. Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins. FASEB J. 15:2149-2161, 2001 b.
-
(2001)
FASEB J
, vol.15
, pp. 2149-2161
-
-
Toyofuku, K.1
Wada, I.2
Valencia, J.C.3
Kushimoto, T.4
Ferrans, V.J.5
Hearing, V.J.6
-
205
-
-
0026636855
-
Tyrosinase gene mutations in Type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions
-
a
-
Tripathi, R. K., K. M. Strunk, L. B. Giebel, R. G. Weleber, and R. A. Spritz. Tyrosinase gene mutations in Type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. Am. J. Med. Genet. 43:865-871, 1992 a.
-
(1992)
Am. J. Med. Genet
, vol.43
, pp. 865-871
-
-
Tripathi, R.K.1
Strunk, K.M.2
Giebel, L.B.3
Weleber, R.G.4
Spritz, R.A.5
-
206
-
-
0027056307
-
Mutational mapping of the catalytic activities of human tyrosinase
-
b
-
Tripathi, R. K., V. J. Hearing, K. Urabe, P. Aroca, and R. A. Spritz. Mutational mapping of the catalytic activities of human tyrosinase. J. Biol. Chem. 267:23707-23712, 1992 b.
-
(1992)
J. Biol. Chem
, vol.267
, pp. 23707-23712
-
-
Tripathi, R.K.1
Hearing, V.J.2
Urabe, K.3
Aroca, P.4
Spritz, R.A.5
-
207
-
-
0027436609
-
Mutations of the tyrosinase gene in Indo-Pakistani patients with Type I (tyrosinase-deficient) oculocutaneous albinism (OCA)
-
Tripathi, R. K., S. Bundey, M. A. Musarella, S. Droetto, K. M. Strunk, S. A. Holmes, and R. A. Spritz. Mutations of the tyrosinase gene in Indo-Pakistani patients with Type I (tyrosinase-deficient) oculocutaneous albinism (OCA). Am. J. Hum. Genet. 53:1173-1179, 1993.
-
(1993)
Am. J. Hum. Genet
, vol.53
, pp. 1173-1179
-
-
Tripathi, R.K.1
Bundey, S.2
Musarella, M.A.3
Droetto, S.4
Strunk, K.M.5
Holmes, S.A.6
Spritz, R.A.7
-
208
-
-
2942531850
-
Histological examination of an adult human albino's eyeball, with a note on mesoblastic pigmentation in foetal eyes
-
Usher, C. H. Histological examination of an adult human albino's eyeball, with a note on mesoblastic pigmentation in foetal eyes. Bio-metrika 13:46-56, 1920.
-
(1920)
Bio-metrika
, vol.13
, pp. 46-56
-
-
Usher, C.H.1
-
209
-
-
0023128844
-
Albinism, or the NOACH syndrome
-
(The book of Enoch c.v. 1-20).
-
van Dorp, D. B. Albinism, or the NOACH syndrome (The book of Enoch c.v. 1-20). Clin. Genet. 31:228-242, 1987.
-
(1987)
Clin. Genet
, vol.31
, pp. 228-242
-
-
Van Dorp, D.B.1
-
210
-
-
0037087384
-
ABCD syndrome is caused by a homozygous mutation in the EDNRB gene
-
Verheij, J. B., J. Kunze, J. Osinga, A. J. van Essen, and R. M. Hofstra. ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. Am. J. Med. Genet. 108:223-225, 2002.
-
(2002)
Am. J. Med. Genet
, vol.108
, pp. 223-225
-
-
Verheij, J.B.1
Kunze, J.2
Osinga, J.3
Van Essen, A.J.4
Hofstra, R.M.5
-
211
-
-
84889622354
-
Remarkable Facts in Human Albinism and Leukism
-
Assen, The Netherlands: Van Gorcum and Co.
-
Waardenburg, P. J. Remarkable Facts in Human Albinism and Leukism. Assen, The Netherlands: Van Gorcum and Co., 1970.
-
(1970)
-
-
Waardenburg, P.J.1
-
212
-
-
77049281929
-
X-chromosomal ocular albinism in a Dutch family
-
Waardenburg, P. J., and J. van den Bosch. X-chromosomal ocular albinism in a Dutch family. Ann. Hum. Genet. 21:101-122, 1956.
-
(1956)
Ann. Hum. Genet
, vol.21
, pp. 101-122
-
-
Waardenburg, P.J.1
Van Den Bosch, J.2
-
213
-
-
0024817187
-
Electroretinographic findings in human oculocutaneous albinism
-
Wack, M. A., N. S. Peachey, and G. A. Fishman. Electroretinographic findings in human oculocutaneous albinism. Ophthalmology 96: 1778-1785, 1989.
-
(1989)
Ophthalmology
, vol.96
, pp. 1778-1785
-
-
Wack, M.A.1
Peachey, N.S.2
Fishman, G.A.3
-
216
-
-
0015193213
-
Albinism
-
In:, H. Harris, and K. Hirschhorn (eds). New York: Plenum Press
-
Witkop, J. C. Albinism. In: Advances in Human Genetics, Vol. 2. H. Harris, and K. Hirschhorn (eds). New York: Plenum Press, 1971, pp. 61-142.
-
(1971)
Advances in Human Genetics
, vol.2
, pp. 61-142
-
-
Witkop, J.C.1
-
218
-
-
0014708081
-
Autosomal recessive oculocutaneous albinism in man: evidence for genetic heterogeneity
-
Witkop, C. J., W. E. Nance, R. F. Rawls, and J. G. White. Autosomal recessive oculocutaneous albinism in man: evidence for genetic heterogeneity. Am. J. Hum. Genet. 22:55-74, 1970.
-
(1970)
Am. J. Hum. Genet
, vol.22
, pp. 55-74
-
-
Witkop, C.J.1
Nance, W.E.2
Rawls, R.F.3
White, J.G.4
-
219
-
-
0015068931
-
Classification of albinism in man
-
Witkop, C. J., J. G. White, W. E. Nance, C. E. Jackson, and S. Desnick. Classification of albinism in man. Birth Defects Original Article Series 7:13-25, 1971.
-
(1971)
Birth Defects Original Article Series
, vol.7
, pp. 13-25
-
-
Witkop, C.J.1
White, J.G.2
Nance, W.E.3
Jackson, C.E.4
Desnick, S.5
-
220
-
-
0035789541
-
Regulation of choroid development by the retinal pigment epithelium
-
Zhao, S., and P. A. Overbeek. Regulation of choroid development by the retinal pigment epithelium. Mol. Vis. 7:277-282, 2001.
-
(2001)
Mol. Vis
, vol.7
, pp. 277-282
-
-
Zhao, S.1
Overbeek, P.A.2
-
221
-
-
85014890436
-
Retinal pigment epithelium
-
In:, T. D. Duane, and E. A. Jaeger (eds). Hagerstown: Harper & Row
-
Zinn, K. M., and J. Benjamin-Henkind. Retinal pigment epithelium. In: Biomedical Foundations of Ophthalmology. T. D. Duane, and E. A. Jaeger (eds). Hagerstown: Harper & Row, 1986, pp. 1-20.
-
(1986)
Biomedical Foundations of Ophthalmology
, pp. 1-20
-
-
Zinn, K.M.1
Benjamin-Henkind, J.2
-
222
-
-
0037666799
-
Hermansky-Pudlaksyndrome type 4 (HPS-4): clinical and molecular characteristics
-
Anderson, P. D., M. Huizing, D. Claassen, et al. Hermansky-Pudlaksyndrome type 4 (HPS-4): clinical and molecular characteristics. Hum. Genet. 113:10-17, 2003.
-
(2003)
Hum. Genet
, vol.113
, pp. 10-17
-
-
Anderson, P.D.1
Huizing, M.2
Claassen, D.3
-
223
-
-
0034928726
-
Mutations of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico
-
Anikster, Y., M. Huizing, J. White, Y. O. Sheuchenko, D. L. Fitzpatrick, J. W. Touchman, J. G. Compton, S. J. Bale, R. T. Swank, W. A. Gahl, and J. R. Toro. Mutations of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nature Genet. 28:376-380, 2001.
-
(2001)
Nature Genet
, vol.28
, pp. 376-380
-
-
Anikster, Y.1
Huizing, M.2
White, J.3
Sheuchenko, Y.O.4
Fitzpatrick, D.L.5
Touchman, J.W.6
Compton, J.G.7
Bale, S.J.8
Swank, R.T.9
Gahl, W.A.10
Toro, J.R.11
-
224
-
-
2442581122
-
Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis
-
Bachli, E. B., T. Eppler, E. Brack, et al. Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. Am. J. Med. Genet. 127 A(2):201-207, 2004.
-
(2004)
Am. J. Med. Genet
, vol.127 A
, Issue.2
, pp. 201-207
-
-
Bachli, E.B.1
Eppler, T.2
Brack, E.3
-
225
-
-
0041825467
-
Hypomelanosis, immunity, central nervous system: no more "and", not the "end"
-
Bahadoranm P., J. P. Ortonne, and R. Ballotti. Hypomelanosis, immunity, central nervous system: no more "and", not the "end". Am. J. Med. Genet. 116:334-337, 2003.
-
(2003)
Am. J. Med. Genet
, vol.116
, pp. 334-337
-
-
Bahadoranm, P.1
Ortonne, J.P.2
Ballotti, R.3
-
226
-
-
15844397403
-
Identification of the homologous beige and Chediak-Higashi syndrome genes
-
Barbosam M. D. F. S., et al. Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 382:262, 1996.
-
(1996)
Nature
, vol.382
, pp. 262
-
-
Barbosam, M.D.F.S.1
-
227
-
-
8544220356
-
Identification of mutations in two major isoforms of mRNA of the Chediak-Higashi syndrome gene in humans and mouse
-
Barbosa, M. D., et al. Identification of mutations in two major isoforms of mRNA of the Chediak-Higashi syndrome gene in humans and mouse. Hum. Mol. Genet. 6:1091, 1997.
-
(1997)
Hum. Mol. Genet
, vol.6
, pp. 1091
-
-
Barbosa, M.D.1
-
228
-
-
0033587676
-
Defective CTLA-4 cycling pathway in Chediak-Higashi syndrome: a possible mechanism for deregulation of T lymphocyte activation
-
Barrat, F. J., et al. Defective CTLA-4 cycling pathway in Chediak-Higashi syndrome: a possible mechanism for deregulation of T lymphocyte activation. Proc. Natl Acad. Sci. USA 96:8645, 1999.
-
(1999)
Proc. Natl Acad. Sci. USA
, vol.96
, pp. 8645
-
-
Barrat, F.J.1
-
229
-
-
12944277163
-
Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome
-
Certain, S., et al. Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome. Blood 95:979, 2000.
-
(2000)
Blood
, vol.95
, pp. 979
-
-
Certain, S.1
-
230
-
-
0038713390
-
The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are the components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organites
-
Chiang, P. W., N. Oiso, R. Gautam, et al. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are the components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organites. J. Biol. Chem. 278:20332-20337, 2003.
-
(2003)
J. Biol. Chem
, vol.278
, pp. 20332-20337
-
-
Chiang, P.W.1
Oiso, N.2
Gautam, R.3
-
231
-
-
0242539818
-
Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse
-
Clark, R. H., J. C. Stinchcombe, A. Day, et al. Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. Nature Immunol. 4:1111-1120, 2003.
-
(2003)
Nature Immunol
, vol.4
, pp. 1111-1120
-
-
Clark, R.H.1
Stinchcombe, J.C.2
Day, A.3
-
232
-
-
0033609847
-
Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance
-
del Campo, M., B. D. Hall, A. Aeby, M. C. Nassogne, A. Verloes, C. Roche, C. Gonzalez, H. Sanchez, A. Garcia-Alix, F. Cabanas, R. M. Escudero, R. Hernandez, and J. Quero. Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance. Am. J. Med. Genet. 85:479-485, 1999.
-
(1999)
Am. J. Med. Genet
, vol.85
, pp. 479-485
-
-
Del Campo, M.1
Hall, B.D.2
Aeby, A.3
Nassogne, M.C.4
Verloes, A.5
Roche, C.6
Gonzalez, C.7
Sanchez, H.8
Garcia-Alix, A.9
Cabanas, F.10
Escudero, R.M.11
Hernandez, R.12
Quero, J.13
-
233
-
-
0033007616
-
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta3A subunit of the AP-3 adaptor
-
Dell'Angelica, E. C., V. Shotelersuk, R. C. Aguilar, et al. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta3A subunit of the AP-3 adaptor. Mol. Cell 3:11-21, 1999.
-
(1999)
Mol. Cell
, vol.3
, pp. 11-21
-
-
Dell'Angelica, E.C.1
Shotelersuk, V.2
Aguilar, R.C.3
-
234
-
-
0032100704
-
Deficient peptide loading and MHC class II endoso-mal sorting in a human genetic immunodeficiency syndrome: the Chediak-Higashi syndrome
-
Faigle, W., et al. Deficient peptide loading and MHC class II endoso-mal sorting in a human genetic immunodeficiency syndrome: the Chediak-Higashi syndrome. J. Cell Biol. 141:1121, 1998.
-
(1998)
J. Cell Biol
, vol.141
, pp. 1121
-
-
Faigle, W.1
-
235
-
-
19244382144
-
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)
-
Gahl, W. A., et al. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N. Engl. J. Med. 338:1258, 1998.
-
(1998)
N. Engl. J. Med
, vol.338
, pp. 1258
-
-
Gahl, W.A.1
-
236
-
-
0030787866
-
The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome
-
Gardner, J. M., S. C. Wildenberg, N. M. Keiper, et al. The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. Proc. Natl Acad. Sci. USA 94:9238-9243, 1997.
-
(1997)
Proc. Natl Acad. Sci. USA
, vol.94
, pp. 9238-9243
-
-
Gardner, J.M.1
Wildenberg, S.C.2
Keiper, N.M.3
-
237
-
-
1842581837
-
The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2)
-
Gautam, S., R. Chintala, and W. Li. The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). J. Biol. Chem. 279:12935-12942, 2004.
-
(2004)
J. Biol. Chem
, vol.279
, pp. 12935-12942
-
-
Gautam, S.1
Chintala, R.2
Li, W.3
-
238
-
-
0018086099
-
A syndrome associating partial albinism and immunodeficiency
-
Griscelli, C., A. Durandy, D. Guy-Grand, et al. A syndrome associating partial albinism and immunodeficiency. Am. J. Med. 65:691-702, 1978.
-
(1978)
Am. J. Med
, vol.65
, pp. 691-702
-
-
Griscelli, C.1
Durandy, A.2
Guy-Grand, D.3
-
239
-
-
0035911150
-
Defective granule exocyto-sis in Rab27a-deficient lymphocytes from ashen mice
-
Haddad, E., W. Xufeng, J. Hammer, et al. Defective granule exocyto-sis in Rab27a-deficient lymphocytes from ashen mice. J. Cell Biol. 152:835-841, 2001.
-
(2001)
J. Cell Biol
, vol.152
, pp. 835-841
-
-
Haddad, E.1
Xufeng, W.2
Hammer, J.3
-
240
-
-
0027058030
-
Partial albinism, immunodeficiency, and progressive white matter disease: a new primary immunodeficiency
-
Harfi, H. A., J. Brismar, B. Hainau, and R. Sabbah. Partial albinism, immunodeficiency, and progressive white matter disease: a new primary immunodeficiency. Allergy Proc. 13:321-328, 1992.
-
(1992)
Allergy Proc
, vol.13
, pp. 321-328
-
-
Harfi, H.A.1
Brismar, J.2
Hainau, B.3
Sabbah, R.4
-
241
-
-
0034331071
-
Hermansky-Pudlak syndrome and related disorders of organelle formation
-
Huizing, M., Y. Anikster, and W. A. Gahl. Hermansky-Pudlak syndrome and related disorders of organelle formation. Traffic 1:823, 2000.
-
(2000)
Traffic
, vol.1
, pp. 823
-
-
Huizing, M.1
Anikster, Y.2
Gahl, W.A.3
-
242
-
-
0034764945
-
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency
-
Huizing, M., et al. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am. J. Hum. Genet. 69:1022, 2001.
-
(2001)
Am. J. Hum. Genet
, vol.69
, pp. 1022
-
-
Huizing, M.1
-
243
-
-
0036157244
-
Nonsense mutations in ADTB3A cause complete deficiency of the β3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2
-
Huizing, M., C. D. Scher, E. Strovel, et al. Nonsense mutations in ADTB3A cause complete deficiency of the β3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatr. Res. 51:150-158, 2002.
-
(2002)
Pediatr. Res
, vol.51
, pp. 150-158
-
-
Huizing, M.1
Scher, C.D.2
Strovel, E.3
-
244
-
-
18244405827
-
Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome
-
Karim, M. A., et al. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am. J. Med. Genet. 108:16, 2002.
-
(2002)
Am. J. Med. Genet
, vol.108
, pp. 16
-
-
Karim, M.A.1
-
245
-
-
0028032845
-
Partial albinism with immunodeficiency (Griscelli syndrome)
-
Klein, C., N. Philippe, F. Le Deist, et al. Partial albinism with immunodeficiency (Griscelli syndrome). J. Pediatr. 125:886-895, 1994.
-
(1994)
J. Pediatr
, vol.125
, pp. 886-895
-
-
Klein, C.1
Philippe, N.2
Le Deist, F.3
-
246
-
-
0041854263
-
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organites complex 1 (BLOC-1)
-
Li, W., Q. Zhang, and N. Oiso. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organites complex 1 (BLOC-1). Nature Genet. 35:84-89, 2003.
-
(2003)
Nature Genet
, vol.35
, pp. 84-89
-
-
Li, W.1
Zhang, Q.2
Oiso, N.3
-
247
-
-
0035490904
-
The melanosome, membrane dynamics in black and white
-
Marks, M. S., and M. C. Seabra. The melanosome, membrane dynamics in black and white. Nature Rev. Mol. Cell. Biol. 2:738-748, 2001.
-
(2001)
Nature Rev. Mol. Cell. Biol
, vol.2
, pp. 738-748
-
-
Marks, M.S.1
Seabra, M.C.2
-
248
-
-
0043208690
-
BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4
-
Martina, J. A., K. Moriyama, J. S. Bonifacino, et al. BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. J. Biol. Chem. 278:29376-29384, 2003.
-
(2003)
J. Biol. Chem
, vol.278
, pp. 29376-29384
-
-
Martina, J.A.1
Moriyama, K.2
Bonifacino, J.S.3
-
249
-
-
0344002689
-
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
-
Menasche, G., E. Pastural, J. Feldmann, et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nature Genet. 25:173-176, 2000.
-
(2000)
Nature Genet
, vol.25
, pp. 173-176
-
-
Menasche, G.1
Pastural, E.2
Feldmann, J.3
-
250
-
-
0038107403
-
Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients
-
a
-
Menasche, G., J. Feldmann, A. Houdusse, et al. Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. Blood 101:2736-2742, 2003 a.
-
(2003)
Blood
, vol.101
, pp. 2736-2742
-
-
Menasche, G.1
Feldmann, J.2
Houdusse, A.3
-
251
-
-
0042388106
-
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)
-
b
-
Menasche, G., C. H. Ho, O. Sanal, et al. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J. Clin. Invest. 112:450-456, 2003 b.
-
(2003)
J. Clin. Invest
, vol.112
, pp. 450-456
-
-
Menasche, G.1
Ho, C.H.2
Sanal, O.3
-
252
-
-
0030293556
-
Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome
-
Nagle, D. L., et al. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nature Genet. 14:307, 1996.
-
(1996)
Nature Genet
, vol.14
, pp. 307
-
-
Nagle, D.L.1
-
253
-
-
0042307384
-
Biogenesis of lysosome-related organites complex 3 (BLOC-3). A complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4
-
Nazarian, R., J. Falcon-Perez, E. C. Dell'Angelica, et al. Biogenesis of lysosome-related organites complex 3 (BLOC-3). A complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. Proc. Natl Acad. Sci. USA 100:8770-8775, 2003.
-
(2003)
Proc. Natl Acad. Sci. USA
, vol.100
, pp. 8770-8775
-
-
Nazarian, R.1
Falcon-Perez, J.2
Dell'Angelica, E.C.3
-
254
-
-
0030914460
-
Griscelli disease maps to chromosome15q21 and is associated with mutations in the myosine-Va gene
-
Pastural, E., F. J. Barral, R. Durourcq-Lagelouse, et al. Griscelli disease maps to chromosome15q21 and is associated with mutations in the myosine-Va gene. Nature Genet. 16:289-292, 1997.
-
(1997)
Nature Genet
, vol.16
, pp. 289-292
-
-
Pastural, E.1
Barral, F.J.2
Durourcq-Lagelouse, R.3
-
255
-
-
0030693642
-
The Beige/Chediak-Higashi protein encodes a widely expressed cytosolic protein
-
Perou, C. M. The Beige/Chediak-Higashi protein encodes a widely expressed cytosolic protein. J. Biol. Chem. 272:29790, 1997.
-
(1997)
J. Biol. Chem
, vol.272
, pp. 29790
-
-
Perou, C.M.1
-
256
-
-
0034177476
-
A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation
-
Shotelersuk, V., et al. A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation. Am. J. Med. 108:423, 2000.
-
(2000)
Am. J. Med
, vol.108
, pp. 423
-
-
Shotelersuk, V.1
-
257
-
-
0031929550
-
Molecular genetics of Hermansky-Pudlak and Chediak-Higashi syndromes
-
Spritz, R. A. Molecular genetics of Hermansky-Pudlak and Chediak-Higashi syndromes. Platelets 9:21, 1998.
-
(1998)
Platelets
, vol.9
, pp. 21
-
-
Spritz, R.A.1
-
258
-
-
0002549623
-
Chediak-Higashi syndrome
-
In:, H. D. Ochs, C. I. Smith, and J. M. Puck (eds). New York: Oxford University Press
-
Spritz, R. A. Chediak-Higashi syndrome. In: Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. H. D. Ochs, C. I. Smith, and J. M. Puck (eds). New York: Oxford University Press, 1999, pp. 389-396.
-
(1999)
Primary Immunodeficiency Diseases: A Molecular and Genetic Approach
, pp. 389-396
-
-
Spritz, R.A.1
-
259
-
-
0034072257
-
Hermansky-Pudlak syndrome and pale-ear: melanosome making for the millennium
-
Spritz, R. A. Hermansky-Pudlak syndrome and pale-ear: melanosome making for the millennium. Pigment Cell Res. 13:15, 2000.
-
(2000)
Pigment Cell Res
, vol.13
, pp. 15
-
-
Spritz, R.A.1
-
260
-
-
0034189092
-
Secretory lyso-some biogenesis in cytotoxic T lymphocytes from normal and Chediak-Higashi syndrome patients
-
Stinchcombe, J. C., L. J. Page, and G. M. Griffiths. Secretory lyso-some biogenesis in cytotoxic T lymphocytes from normal and Chediak-Higashi syndrome patients. Traffic 1:435, 2000.
-
(2000)
Traffic
, vol.1
, pp. 435
-
-
Stinchcombe, J.C.1
Page, L.J.2
Griffiths, G.M.3
-
261
-
-
0035911160
-
Rab27a is required for regulated secretion in cytotoxic T lymphocytes
-
Stinchcombe, J. C., D. C. Barral, E. H. Mules, et al. Rab27a is required for regulated secretion in cytotoxic T lymphocytes. J. Cell Biol. 152:825-834, 2001.
-
(2001)
J. Cell Biol
, vol.152
, pp. 825-834
-
-
Stinchcombe, J.C.1
Barral, D.C.2
Mules, E.H.3
-
262
-
-
18544384692
-
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene
-
Suzuki, T., W. Li, Q. Zhang, et al. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nature Genet. 30:321, 2002.
-
(2002)
Nature Genet
, vol.30
, pp. 321
-
-
Suzuki, T.1
Li, W.2
Zhang, Q.3
-
263
-
-
0023845505
-
Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypomelanosis in two brothers
-
Vici, C. D., G. Sabetta, M. Gambarara, F. Vigevano, E. Bertini, R. Boldrini, S. G. Parisi, I. Quinti, F. Aiuti, and M. Fiorilli. Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypomelanosis in two brothers. Am. J. Med. Genet. 29:1-8, 1988.
-
(1988)
Am. J. Med. Genet
, vol.29
, pp. 1-8
-
-
Vici, C.D.1
Sabetta, G.2
Gambarara, M.3
Vigevano, F.4
Bertini, E.5
Boldrini, R.6
Parisi, S.G.7
Quinti, I.8
Aiuti, F.9
Fiorilli, M.10
-
264
-
-
0036226156
-
Identification of an organelle receptor for myosin-Va
-
Wu, X. S., K. Rao, H. Zhang, et al. Identification of an organelle receptor for myosin-Va. Nature Cell Biol. 4:271-278, 2002.
-
(2002)
Nature Cell Biol
, vol.4
, pp. 271-278
-
-
Wu, X.S.1
Rao, K.2
Zhang, H.3
-
265
-
-
0037312933
-
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6
-
Zhang, Q., B. Zhao, W. Li, et al. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nature 33:145-153, 2003.
-
(2003)
Nature
, vol.33
, pp. 145-153
-
-
Zhang, Q.1
Zhao, B.2
Li, W.3
-
266
-
-
0024420790
-
Visual evoked potentials in Prader-Willi syndrome
-
Apkarian, P. H., Spekreijs, E. van Swaay, and M. van Schooneveld. Visual evoked potentials in Prader-Willi syndrome. Doc. Ophthalmol. 71:355-367, 1989.
-
(1989)
Doc. Ophthalmol
, vol.71
, pp. 355-367
-
-
Apkarian, P.1
Spekreijs, H.2
Van Swaay, E.3
Van Schooneveld, M.4
-
268
-
-
31044455614
-
Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology
-
Bittel, D. C., and M. G. Butler. Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev. Mol. Med. 7:1-20, 2005.
-
(2005)
Expert Rev. Mol. Med
, vol.7
, pp. 1-20
-
-
Bittel, D.C.1
Butler, M.G.2
-
269
-
-
0020540604
-
The Prader-Willi syndrome: A study of 40 patients and a review of the literature
-
Bray, G. A., W. T. Dahms, R. S. Swerdloff, R. H. Fiser, R. L. Atkinson, and R. E. Carrel. The Prader-Willi syndrome: A study of 40 patients and a review of the literature. Medicine 62:59-80, 1983.
-
(1983)
Medicine
, vol.62
, pp. 59-80
-
-
Bray, G.A.1
Dahms, W.T.2
Swerdloff, R.S.3
Fiser, R.H.4
Atkinson, R.L.5
Carrel, R.E.6
-
270
-
-
0037371674
-
Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect
-
Buiting, K., S. Gross, C. Lich, G. Gillessen-Kaesbach, O. el Maarri, and B. Horsthemke. Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am. J. Human Genet. 72:571-577, 2003.
-
(2003)
Am. J. Human Genet
, vol.72
, pp. 571-577
-
-
Buiting, K.1
Gross, S.2
Lich, C.3
Gillessen-Kaesbach, G.4
El Maarri, O.5
Horsthemke, B.6
-
271
-
-
0028588643
-
Clinical and genetic features of ataxia-telangiectasia
-
Bundey, S. Clinical and genetic features of ataxia-telangiectasia. Int. J. Radiat. Biol. 66:S23-S29, 1994.
-
(1994)
Int. J. Radiat. Biol
, vol.66
-
-
Bundey, S.1
-
272
-
-
0024371764
-
Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome
-
Butler, M. G. Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome. Am. J. Human Genet. 45:140-146, 1989.
-
(1989)
Am. J. Human Genet
, vol.45
, pp. 140-146
-
-
Butler, M.G.1
-
273
-
-
0022462350
-
Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome
-
Butler, M. G., F. J. Meaney, and C. G. Palmer. Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am. J. Human Genet. 23:793-809, 1986.
-
(1986)
Am. J. Human Genet
, vol.23
, pp. 793-809
-
-
Butler, M.G.1
Meaney, F.J.2
Palmer, C.G.3
-
274
-
-
0021314588
-
Prader-Willi syndrome
-
Cassidy, S. B. Prader-Willi syndrome. Curr. Probl. Pediatr. 14:5-55, 1984.
-
(1984)
Curr. Probl. Pediatr
, vol.14
, pp. 5-55
-
-
Cassidy, S.B.1
-
275
-
-
0030726998
-
Prader-Willi syndrome
-
Cassidy, S. B. Prader-Willi syndrome. J. Med. Genet. 34:917-923, 1997.
-
(1997)
J. Med. Genet
, vol.34
, pp. 917-923
-
-
Cassidy, S.B.1
-
276
-
-
0031970998
-
Prader-Willi and Angelman syndromes: disorders of genomic imprinting
-
Cassidy, S. B., and S. Schwartz. Prader-Willi and Angelman syndromes: disorders of genomic imprinting. Medicine 77:140-151, 1998.
-
(1998)
Medicine
, vol.77
, pp. 140-151
-
-
Cassidy, S.B.1
Schwartz, S.2
-
277
-
-
0027438770
-
Molecular mechanisms in Angel-man syndrome: a survey of 93 patients
-
Chan, C. T., J. Clayton-Smith, X. J. Cheng, J. Buxton, T. Webb, M. E. Pembrey, and S. Malcolm. Molecular mechanisms in Angel-man syndrome: a survey of 93 patients. J. Med. Genet. 30:895-902, 1993.
-
(1993)
J. Med. Genet
, vol.30
, pp. 895-902
-
-
Chan, C.T.1
Clayton-Smith, J.2
Cheng, X.J.3
Buxton, J.4
Webb, T.5
Pembrey, M.E.6
Malcolm, S.7
-
278
-
-
0026549535
-
Heterogeneity in ataxia telangiectasia: classical phenotype associated with intermediate cellular radiosensitivity
-
Chessa, L., P. Petrinelli, A. Antonelli, M. Fiorilli, R. Elli, L. Marcucci, A. Federico, and E. Gandini. Heterogeneity in ataxia telangiectasia: classical phenotype associated with intermediate cellular radiosensitivity. Am. J. Med. Genet. 42:741-746, 1992.
-
(1992)
Am. J. Med. Genet
, vol.42
, pp. 741-746
-
-
Chessa, L.1
Petrinelli, P.2
Antonelli, A.3
Fiorilli, M.4
Elli, R.5
Marcucci, L.6
Federico, A.7
Gandini, E.8
-
279
-
-
0037328861
-
Angelman syndrome: a review of the clinical and genetic aspects
-
Clayton-Smith, J., and L. Laan. Angelman syndrome: a review of the clinical and genetic aspects. J. Med. Genet. 40:87-95, 2003.
-
(2003)
J. Med. Genet
, vol.40
, pp. 87-95
-
-
Clayton-Smith, J.1
Laan, L.2
-
280
-
-
0022620052
-
Abnormalities of the central visual pathways in Prader-Willi syndrome associate with hypopigmentation
-
Creel, D. J., C. M. Bendel, G. L. Wiesner, J. D. Wirtschafter, D. C. Arthur, and R. A. King. Abnormalities of the central visual pathways in Prader-Willi syndrome associate with hypopigmentation. N. Engl. J. Med. 314:1606-1609, 1986.
-
(1986)
N. Engl. J. Med
, vol.314
, pp. 1606-1609
-
-
Creel, D.J.1
Bendel, C.M.2
Wiesner, G.L.3
Wirtschafter, J.D.4
Arthur, D.C.5
King, R.A.6
-
281
-
-
0032939631
-
The spectrum of mutations in UBE3A causing Angelman syndrome
-
Fang, P., E. Lev-Lehman, T. F. Tsai, T. Matsuura, C. S. Benton, J. S. Sutcliffe, S. L. Christian, T. Kubota, D. J. Halley, H. Meijers-Heijboer, S. Langlois, J. M. Graham Jr., J. Beuten, P. J. Willems, D. H. Ledbetter, and A. L. Beaudet. The spectrum of mutations in UBE3A causing Angelman syndrome. Hum. Mol. Genet. 8:129-135, 1999.
-
(1999)
Hum. Mol. Genet
, vol.8
, pp. 129-135
-
-
Fang, P.1
Lev-Lehman, E.2
Tsai, T.F.3
Matsuura, T.4
Benton, C.S.5
Sutcliffe, J.S.6
Christian, S.L.7
Kubota, T.8
Halley, D.J.9
Meijers-Heijboer, H.10
Langlois, S.11
Graham Jr., J.M.12
Beuten, J.13
Willems, P.J.14
Ledbetter, D.H.15
Beaudet, A.L.16
-
282
-
-
0042322345
-
Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene
-
Fridman, C., N. Hosomi, M. C. Varela, A. H. Souza, K. Fukai, and C. P. Koiffman. Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene. Am. J. Med. Genet. 119 A: 180-183, 2003.
-
(2003)
Am. J. Med. Genet
, vol.119 A
, pp. 180-183
-
-
Fridman, C.1
Hosomi, N.2
Varela, M.C.3
Souza, A.H.4
Fukai, K.5
Koiffman, C.P.6
-
283
-
-
0026061446
-
Ataxia-telangiectasia (group A): localization of ATA gene to chromosome 11q22-23 and pathogenetic implications
-
Gatti, R. A. Ataxia-telangiectasia (group A): localization of ATA gene to chromosome 11q22-23 and pathogenetic implications. Allergol. Immunopathol. 19:42-46, 1991.
-
(1991)
Allergol. Immunopathol
, vol.19
, pp. 42-46
-
-
Gatti, R.A.1
-
284
-
-
0028888903
-
Ataxia telangiectasia
-
Gatti, R. A. Ataxia telangiectasia. Dermatol. Clin. 13:1-6, 1995.
-
(1995)
Dermatol. Clin
, vol.13
, pp. 1-6
-
-
Gatti, R.A.1
-
285
-
-
0028171464
-
Sixth International Workshop on Ataxia-Telangiectasia
-
Gatti, R. A., C. M. McConville, and A. M. Taylor. Sixth International Workshop on Ataxia-Telangiectasia. Cancer Res. 54:6007-6010, 1994.
-
(1994)
Cancer Res
, vol.54
, pp. 6007-6010
-
-
Gatti, R.A.1
McConville, C.M.2
Taylor, A.M.3
-
286
-
-
0028361098
-
Ataxia-telangiectasia (Louis-Bar syndrome) associated with ulcerating necrobiosis lipoidica
-
Gotz, A., F. Eckert, and M. Landthaler. Ataxia-telangiectasia (Louis-Bar syndrome) associated with ulcerating necrobiosis lipoidica. J. Am. Acad. Dermatol. 31:124-125, 1994.
-
(1994)
J. Am. Acad. Dermatol
, vol.31
, pp. 124-125
-
-
Gotz, A.1
Eckert, F.2
Landthaler, M.3
-
287
-
-
0035515362
-
The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria
-
Gunay-Aygun, M., S. Schwartz, S. Heeger, M. A. O'Riordan, and S. B. Cassidy. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 108:E92, 2001.
-
(2001)
Pediatrics
, vol.108
-
-
Gunay-Aygun, M.1
Schwartz, S.2
Heeger, S.3
O'Riordan, M.A.4
Cassidy, S.B.5
-
288
-
-
0028596368
-
The nature of ataxia-telangiectasia: problems and perspectives
-
Harnden, D. G. The nature of ataxia-telangiectasia: problems and perspectives. Int. J. Radiat. Biol. 66:S13-S19, 1994.
-
(1994)
Int. J. Radiat. Biol
, vol.66
-
-
Harnden, D.G.1
-
289
-
-
0019966525
-
Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome
-
Hittner, H. M., R. A. King, V. M. Riccardi, D. H. Ledbetter, R. P. Borda, R. E. Ferrell, and F. L. Kretzer. Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome. Am. J. Ophthalmol. 94:328-337, 1982.
-
(1982)
Am. J. Ophthalmol
, vol.94
, pp. 328-337
-
-
Hittner, H.M.1
King, R.A.2
Riccardi, V.M.3
Ledbetter, D.H.4
Borda, R.P.5
Ferrell, R.E.6
Kretzer, F.L.7
-
290
-
-
0030833487
-
Imprinting mutations on chromosome 15 (review)
-
Horsthemke, B., B. Dittrich B, and K. Buiting K. Imprinting mutations on chromosome 15 (review). Hum. Mutat. 10:329-337, 1997.
-
(1997)
Hum. Mutat
, vol.10
, pp. 329-337
-
-
Horsthemke, B.1
Dittrich, B.B.2
Buiting, K.K.3
-
291
-
-
0033358742
-
Genetics of Angelman syndrome
-
Jiang, Y., E. Lev-Lehman, J. Bressler, T. F. Tsai, and A. L. Beaudet. Genetics of Angelman syndrome. Am. J. Human Genet. 65:1-6, 1999.
-
(1999)
Am. J. Human Genet
, vol.65
, pp. 1-6
-
-
Jiang, Y.1
Lev-Lehman, E.2
Bressler, J.3
Tsai, T.F.4
Beaudet, A.L.5
-
293
-
-
0027530977
-
Hypopig-mentation in Angelman syndrome
-
King, R. A., G. L. Wiesner, D. Townsend, and J. G. White. Hypopig-mentation in Angelman syndrome. Am. J. Human Genet. 46:40-44, 1992.
-
(1992)
Am. J. Human Genet
, vol.46
, pp. 40-44
-
-
King, R.A.1
Wiesner, G.L.2
Townsend, D.3
White, J.G.4
-
294
-
-
0028014593
-
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism
-
Lee, S.-T., R. D. Nicholls, S. Bundey, R. Laxova, M. Musarella, and R. A. Spritz. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N. Engl. J. Med. 330:529-534, 1994.
-
(1994)
N. Engl. J. Med
, vol.330
, pp. 529-534
-
-
Lee, S.-T.1
Nicholls, R.D.2
Bundey, S.3
Laxova, R.4
Musarella, M.5
Spritz, R.A.6
-
296
-
-
0027166997
-
Ataxia-telangiectasia, review of the literature and a case report
-
Moghadam, B. K., J. Y. Zadeh, and R. E. Gier. Ataxia-telangiectasia, review of the literature and a case report. Oral Surg. Oral Med. Oral Pathol. 75:791-797, 1993.
-
(1993)
Oral Surg. Oral Med. Oral Pathol
, vol.75
, pp. 791-797
-
-
Moghadam, B.K.1
Zadeh, J.Y.2
Gier, R.E.3
-
297
-
-
0035777024
-
Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes
-
Nicholls, R. D., and J. L. Knepper. Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu. Rev. Genomics Hum. Genet. 2:153-175, 2001.
-
(2001)
Annu. Rev. Genomics Hum. Genet
, vol.2
, pp. 153-175
-
-
Nicholls, R.D.1
Knepper, J.L.2
-
298
-
-
6844228285
-
Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele
-
Nicholls, R. D., T. Bailin, M. J. Mascari, M. G. Butler, and R. A. Spritz. Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele. Am. J. Human Genet. 59:A39, 1996.
-
(1996)
Am. J. Human Genet
, vol.59
-
-
Nicholls, R.D.1
Bailin, T.2
Mascari, M.J.3
Butler, M.G.4
Spritz, R.A.5
-
299
-
-
0025801878
-
Molecular analysis of an extended family with type IA (tyrosinase negative) oculocutaneous albinism
-
Oetting, W. S., H. Y. Handoko, M. M. Mentink, A. S. Paller, J. G. White, and R. A. King. Molecular analysis of an extended family with type IA (tyrosinase negative) oculocutaneous albinism. J. Invest. Dermatol. 97:15-19, 1991.
-
(1991)
J. Invest. Dermatol
, vol.97
, pp. 15-19
-
-
Oetting, W.S.1
Handoko, H.Y.2
Mentink, M.M.3
Paller, A.S.4
White, J.G.5
King, R.A.6
-
300
-
-
11444249801
-
Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR
-
Raca, G., K. Buiting, and S. Das Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR. Genet. Tests 8:387-394, 2004.
-
(2004)
Genet. Tests
, vol.8
, pp. 387-394
-
-
Raca, G.1
Buiting, K.2
Das, S.3
-
301
-
-
0027509280
-
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
-
Rinchik, E. M., S. J. Bultman, B. Horsthemke, S. Lee, K. M. Stunk, R. A. Spritz, K. M. Avidano, M. T. C. Jong, and R. D. Nicholls. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361:72-76, 1993.
-
(1993)
Nature
, vol.361
, pp. 72-76
-
-
Rinchik, E.M.1
Bultman, S.J.2
Horsthemke, B.3
Lee, S.4
Stunk, K.M.5
Spritz, R.A.6
Avidano, K.M.7
Jong, M.T.C.8
Nicholls, R.D.9
-
302
-
-
0034017934
-
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome (letter)
-
Saitoh, S., N. Oiso, T. Wada, O. Narazaki, and K. Fukai. Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome (letter). J. Med. Genet. 37:392-394, 2000.
-
(2000)
J. Med. Genet
, vol.37
, pp. 392-394
-
-
Saitoh, S.1
Oiso, N.2
Wada, T.3
Narazaki, O.4
Fukai, K.5
-
303
-
-
0028064274
-
Molecular and clinical study of 61 Angelman syndrome patients
-
Saitoh, S., N. Harada, Y. Jinno, K. Hashimoto, K. Imaizumi, Y. Kuroki, Y. Fukushima, T. Sugimoto, M. Renedo, and J. Wagstaff. Molecular and clinical study of 61 Angelman syndrome patients. Am. J. Human Genet. 52:158-163, 1994.
-
(1994)
Am. J. Human Genet
, vol.52
, pp. 158-163
-
-
Saitoh, S.1
Harada, N.2
Jinno, Y.3
Hashimoto, K.4
Imaizumi, K.5
Kuroki, Y.6
Fukushima, Y.7
Sugimoto, T.8
Renedo, M.9
Wagstaff, J.10
-
304
-
-
0031055875
-
Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation
-
Saitoh, S., K. Buiting, S. B. Cassidy, J. M. Conroy, D. J. Driscoll, J. M. Gabriel, G. Gillessen-Kaesbach, C. C. Glenn, L. R. Greenswag, B. Horsthemke, I. Kondo, K. Kuwajima, N. Niikawa, P. K. Rogan, S. Schwartz, J. Seip, C. A. Williams, and R. D. Nicholls. Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. Am. J. Human Genet. 68:195-206, 1997.
-
(1997)
Am. J. Human Genet
, vol.68
, pp. 195-206
-
-
Saitoh, S.1
Buiting, K.2
Cassidy, S.B.3
Conroy, J.M.4
Driscoll, D.J.5
Gabriel, J.M.6
Gillessen-Kaesbach, G.7
Glenn, C.C.8
Greenswag, L.R.9
Horsthemke, B.10
Kondo, I.11
Kuwajima, K.12
Niikawa, N.13
Rogan, P.K.14
Schwartz, S.15
Seip, J.16
Williams, C.A.17
Nicholls, R.D.18
-
305
-
-
19144363371
-
Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion
-
Smith, A., C. Wiles, E. Haan, J. McGill, G. Wallace, J. Dixon, R. Selby, A. Colley, R. Marks, and R. J. Trent. Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion. J. Med. Genet. 33:107-112, 1996.
-
(1996)
J. Med. Genet
, vol.33
, pp. 107-112
-
-
Smith, A.1
Wiles, C.2
Haan, E.3
McGill, J.4
Wallace, G.5
Dixon, J.6
Selby, R.7
Colley, A.8
Marks, R.9
Trent, R.J.10
-
306
-
-
0030922598
-
Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele
-
Spritz, R. A., T. Bailin, R. D. Nicholls, S.-T. Lee, S. K. Park, M. J. Mascari, and M. G. Butler. Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele. Am. J. Human Genet. 71:57-62, 1997.
-
(1997)
Am. J. Human Genet
, vol.71
, pp. 57-62
-
-
Spritz, R.A.1
Bailin, T.2
Nicholls, R.D.3
Lee, S.-T.4
Park, S.K.5
Mascari, M.J.6
Butler, M.G.7
-
307
-
-
0027389186
-
Fifth International Workshop on Ataxia-Telangiectasia
-
Taylor, A. M., N. G. Jaspers, and R. A. Gatti. Fifth International Workshop on Ataxia-Telangiectasia. Cancer Res. 53:438-441, 1993.
-
(1993)
Cancer Res
, vol.53
, pp. 438-441
-
-
Taylor, A.M.1
Jaspers, N.G.2
Gatti, R.A.3
-
308
-
-
0032881374
-
Visual evoked potential evidence of albino-like chiasmal misrouting in a patient with Angelman syndrome with no ocular features of albinism
-
Thompson, D. A., A. Kriss, S. Cottrell, and D. Taylor. Visual evoked potential evidence of albino-like chiasmal misrouting in a patient with Angelman syndrome with no ocular features of albinism. Dev. Med. Child Neurol. 41:633-638, 1999.
-
(1999)
Dev. Med. Child Neurol
, vol.41
, pp. 633-638
-
-
Thompson, D.A.1
Kriss, A.2
Cottrell, S.3
Taylor, D.4
-
309
-
-
0028917529
-
A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome
-
Webb, T., D. Clarke, C. A. Hardy, M. W. Lilpatrick, J. Corbett, and M. Dahlitz. A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome. J. Med. Genet. 32:181-185, 1995.
-
(1995)
J. Med. Genet
, vol.32
, pp. 181-185
-
-
Webb, T.1
Clarke, D.2
Hardy, C.A.3
Lilpatrick, M.W.4
Corbett, J.5
Dahlitz, M.6
-
310
-
-
0023278194
-
Hypopigmentation in the Prader-Willi syndrome
-
Wiesner, G. L., C. M. Bendel, D. P. Olds, J. G. White, D. C. Arthur, D. W. Ball, and R. A. King. Hypopigmentation in the Prader-Willi syndrome. Am. J. Human Genet. 40:431-442, 1987.
-
(1987)
Am. J. Human Genet
, vol.40
, pp. 431-442
-
-
Wiesner, G.L.1
Bendel, C.M.2
Olds, D.P.3
White, J.G.4
Arthur, D.C.5
Ball, D.W.6
King, R.A.7
-
311
-
-
0027502060
-
Atypical clinical presentation of ataxia telangiectasia
-
Willems, P. J., B. C. Van Roy, W. J. Kleijer, M. Van der Kraan, and J. J. Martin. Atypical clinical presentation of ataxia telangiectasia. Am. J. Med. Genet. 42:777-782, 1993.
-
(1993)
Am. J. Med. Genet
, vol.42
, pp. 777-782
-
-
Willems, P.J.1
Van Roy, B.C.2
Kleijer, W.J.3
Van Der Kraan, M.4
Martin, J.J.5
-
312
-
-
0028969404
-
Angelman syndrome: consensus for diagnostic criteria
-
Williams, C. A., H. Angelman, J. Clayton-Smith, D. J. Driscoll, J. E. Hendrickson, J. H. M. Knoll, R. E. Magenis, A. Schnizel, J. Wagstaff, E. M. Whidden, and R. T. Zori. Angelman syndrome: consensus for diagnostic criteria. Am. J. Human Genet. 56:237-238, 1995.
-
(1995)
Am. J. Human Genet
, vol.56
, pp. 237-238
-
-
Williams, C.A.1
Angelman, H.2
Clayton-Smith, J.3
Driscoll, D.J.4
Hendrickson, J.E.5
Knoll, J.H.M.6
Magenis, R.E.7
Schnizel, A.8
Wagstaff, J.9
Whidden, E.M.10
Zori, R.T.11
-
313
-
-
0035371487
-
Angelman syndrome: mimicking conditions and phenotypes
-
Williams, C. A., A. Lossie A, and D. Driscoll. Angelman syndrome: mimicking conditions and phenotypes. Am. J. Human Genet. 101: 59-64, 2001.
-
(2001)
Am. J. Human Genet
, vol.101
, pp. 59-64
-
-
Williams, C.A.1
Lossie, A.A.2
Driscoll, D.3
-
314
-
-
0026612460
-
Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals
-
Woods, C. G., and A. M. Taylor. Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q. J. Med. 82:169-179, 1992.
-
(1992)
Q. J. Med
, vol.82
, pp. 169-179
-
-
Woods, C.G.1
Taylor, A.M.2
-
315
-
-
84889628460
-
Histidinemia: a new metabolic disorder [Abstract]
-
Andrews, B. F., P. F. Crosby, and C. R. Angel. Histidinemia: a new metabolic disorder [Abstract]. South. Med. J. 55:1326, 1962.
-
(1962)
South. Med. J
, vol.55
, pp. 1326
-
-
Andrews, B.F.1
Crosby, P.F.2
Angel, C.R.3
-
316
-
-
0024566720
-
Joubert's syndrome associated with congenital ocular fibrosis and histidinemia
-
Appleton, R. E., D. Chitayat, J. E. Jan, R. Kennedy, and J. G. Hall. Joubert's syndrome associated with congenital ocular fibrosis and histidinemia. Arch. Neurol. 46:579-582, 1989.
-
(1989)
Arch. Neurol
, vol.46
, pp. 579-582
-
-
Appleton, R.E.1
Chitayat, D.2
Jan, J.E.3
Kennedy, R.4
Hall, J.G.5
-
317
-
-
49449115750
-
Histidinemia, a deficiency in histidase resulting in the urinary excretion of histidine and imidazole pyruvic acid
-
Auerbach, V. H., A. M. DiGeorge, R. C. Baldridge, C. D. Tourtellotte, and M. P. Brigham. Histidinemia, a deficiency in histidase resulting in the urinary excretion of histidine and imidazole pyruvic acid. J. Pediatr. 60:487-497, 1962.
-
(1962)
J. Pediatr
, vol.60
, pp. 487-497
-
-
Auerbach, V.H.1
DiGeorge, A.M.2
Baldridge, R.C.3
Tourtellotte, C.D.4
Brigham, M.P.5
-
318
-
-
0016745268
-
Screening for inherited metabolic disease in Wales using urine-impregnated filter paper
-
Bradley, D. M. Screening for inherited metabolic disease in Wales using urine-impregnated filter paper. Arch Dis. Child. 50:264-268, 1975.
-
(1975)
Arch Dis. Child
, vol.50
, pp. 264-268
-
-
Bradley, D.M.1
-
319
-
-
0014250189
-
Histidinaemia: a child and his family
-
Cain, A. R. R., and J. B. Holton. Histidinaemia: a child and his family. Arch. Dis. Child. 43:62-67, 1968.
-
(1968)
Arch. Dis. Child
, vol.43
, pp. 62-67
-
-
Cain, A.R.R.1
Holton, J.B.2
-
322
-
-
0025976486
-
Progressive myoclonus and histidinaemia
-
Duncan, J. S., P. Brown, and C. D. Marsden. Progressive myoclonus and histidinaemia. Mov. Disord. 6:87-89, 1991.
-
(1991)
Mov. Disord
, vol.6
, pp. 87-89
-
-
Duncan, J.S.1
Brown, P.2
Marsden, C.D.3
-
323
-
-
0014683538
-
Histidinemia: report of four new cases in one family and the effect of low histidine diets
-
Gatfield, P. D., R. M. Knights, M. Devereux, and J. P. Pozsonyi. Histidinemia: report of four new cases in one family and the effect of low histidine diets. Can. Med. Assoc. J. 101:71-75, 1969.
-
(1969)
Can. Med. Assoc. J
, vol.101
, pp. 71-75
-
-
Gatfield, P.D.1
Knights, R.M.2
Devereux, M.3
Pozsonyi, J.P.4
-
324
-
-
0019474667
-
Histidinemia. Biochemistry and behavior
-
Ghadimi, H. Histidinemia. Biochemistry and behavior. Am. J. Dis. Child. 135:210-213, 1981.
-
(1981)
Am. J. Dis. Child
, vol.135
, pp. 210-213
-
-
Ghadimi, H.1
-
325
-
-
0014041204
-
Salient features of histidinemia. A
-
Ghadimi, H., and M. W. Partington. Salient features of histidinemia. A. J. Dis. Child. 113:83-87, 1967.
-
(1967)
J. Dis. Child
, vol.113
, pp. 83-87
-
-
Ghadimi, H.1
Partington, M.W.2
-
326
-
-
0011108986
-
A familial disturbance of histidine metabolism
-
Ghadimi, H., M. W. Partington, and A. Hunter. A familial disturbance of histidine metabolism. N. Engl. J. Med. 265:221-224, 1961.
-
(1961)
N. Engl. J. Med
, vol.265
, pp. 221-224
-
-
Ghadimi, H.1
Partington, M.W.2
Hunter, A.3
-
327
-
-
0014610433
-
The simultaneous occurrence of histidinemia and congenital hypoplastic anemia
-
Gilman, P. A., and R. R. Howell. The simultaneous occurrence of histidinemia and congenital hypoplastic anemia. J. Pediatr. 75:878-880, 1969.
-
(1969)
J. Pediatr
, vol.75
, pp. 878-880
-
-
Gilman, P.A.1
Howell, R.R.2
-
328
-
-
0022389436
-
Speech and language disorders in histid-inaemia and other amino acid disturbances
-
Hyanek, J., and V. Raisova. Speech and language disorders in histid-inaemia and other amino acid disturbances. J. Inherit. Metab. Dis. 8 (Suppl. 2):130, 1985.
-
(1985)
J. Inherit. Metab. Dis
, vol.8
, Issue.SUPPL. 2
, pp. 130
-
-
Hyanek, J.1
Raisova, V.2
-
329
-
-
0021734118
-
Histamine metabolism in patients with histidinemia: determination of urinary levels of histamine, N-tau-methylhistamine, imidazole acetic acid, and its conjugate
-
Imamura, I., T. Watanabe, Y. Hase, Y. Sakamoto, Y. Fukuda, H. Yamamoto, T. Tsuruhara, and H. Wada. Histamine metabolism in patients with histidinemia: determination of urinary levels of histamine, N-tau-methylhistamine, imidazole acetic acid, and its conjugate. J. Biochem. 96:1925-1929, 1984.
-
(1984)
J. Biochem
, vol.96
, pp. 1925-1929
-
-
Imamura, I.1
Watanabe, T.2
Hase, Y.3
Sakamoto, Y.4
Fukuda, Y.5
Yamamoto, H.6
Tsuruhara, T.7
Wada, H.8
-
330
-
-
0019471860
-
Biochemical parameters for diagnosis
-
Ito, F., K. Aoki, and Y. Eto. Biochemical parameters for diagnosis. Am. J. Dis. Child. 135:227-229, 1981.
-
(1981)
Am. J. Dis. Child
, vol.135
, pp. 227-229
-
-
Ito, F.1
Aoki, K.2
Eto, Y.3
-
331
-
-
84889621320
-
Histidinemia and atopic dermatitis
-
Kierland, R. R., H. O. Perry, R. K. Winkelmann, S. A. Muller, and W. M. Sams. Histidinemia and atopic dermatitis. Arch. Dermatol. 98:316-322, 1968.
-
(1968)
Arch. Dermatol
, vol.98
, pp. 316-322
-
-
Kierland, R.R.1
Perry, H.O.2
Winkelmann, R.K.3
Muller, S.A.4
Sams, W.M.5
-
333
-
-
0018899076
-
Relationship between skin histidase activity and blood histidine response to histidine intake in patients with his-tidinemia
-
Kuroda, Y., T. Ogawa, M. Ito, T. Watanabe, E. Takeda, K. Toshima, and M. Miyao. Relationship between skin histidase activity and blood histidine response to histidine intake in patients with his-tidinemia. J. Pediatr. 97:269-272, 1980.
-
(1980)
J. Pediatr
, vol.97
, pp. 269-272
-
-
Kuroda, Y.1
Ogawa, T.2
Ito, M.3
Watanabe, T.4
Takeda, E.5
Toshima, K.6
Miyao, M.7
-
334
-
-
0014042597
-
Histidinemia: current status
-
La Du, B. N. Histidinemia: current status. Am. J. Dis. Child. 113:88-92, 1967.
-
(1967)
Am. J. Dis. Child
, vol.113
, pp. 88-92
-
-
La Du, B.N.1
-
335
-
-
75549102880
-
Clinical and biochemical studies on two cases of histidinemia
-
La Du, B. N., R. R. Howell, G. A. Jacoby, J. E. Seegmiller, E. K. Sober, V. G. Zannoni, J. P. Canby, and L. K. Ziegler. Clinical and biochemical studies on two cases of histidinemia. Pediatrics 32:216-227, 1963.
-
(1963)
Pediatrics
, vol.32
, pp. 216-227
-
-
La Du, B.N.1
Howell, R.R.2
Jacoby, G.A.3
Seegmiller, J.E.4
Sober, E.K.5
Zannoni, V.G.6
Canby, J.P.7
Ziegler, L.K.8
-
336
-
-
0014866178
-
Speech and histidinemia: methodology and evaluation of four cases
-
Lott, I. T., J. A. Wheelden, and H. L. Levy. Speech and histidinemia: methodology and evaluation of four cases. Dev. Med. Child. Neurol. 12:596-603, 1970.
-
(1970)
Dev. Med. Child. Neurol
, vol.12
, pp. 596-603
-
-
Lott, I.T.1
Wheelden, J.A.2
Levy, H.L.3
-
337
-
-
0025192210
-
Biochemical investigation of histidinemia in schizophrenic patients
-
Lucca, A., M. Catalano, R. Valsasina, C. Fara, and E. Smeraldi. Biochemical investigation of histidinemia in schizophrenic patients. Biol. Psychiatry 27:67-75, 1990.
-
(1990)
Biol. Psychiatry
, vol.27
, pp. 67-75
-
-
Lucca, A.1
Catalano, M.2
Valsasina, R.3
Fara, C.4
Smeraldi, E.5
-
338
-
-
0020484615
-
Blood histidine levels during course of histidinaemia
-
Matsuda, I., N. Nagata, and F. Endo. Blood histidine levels during course of histidinaemia. Lancet 1:162-163, 1982.
-
(1982)
Lancet
, vol.1
, pp. 162-163
-
-
Matsuda, I.1
Nagata, N.2
Endo, F.3
-
339
-
-
0015610428
-
Histidinaemia: its significance in neonatal screening
-
Neville, B. G. R., and P. M. Lilly. Histidinaemia: its significance in neonatal screening. Arch. Dis. Child. 48:325-326, 1973.
-
(1973)
Arch. Dis. Child
, vol.48
, pp. 325-326
-
-
Neville, B.G.R.1
Lilly, P.M.2
-
340
-
-
0022163719
-
Disturbances in histidine metabolism in children with speech abnormalities
-
Pieniazek, D., J. Kubalska, E. Pronicka, and E. Stecko. Disturbances in histidine metabolism in children with speech abnormalities. Acta Anthropogenet. 9:117-121, 1985.
-
(1985)
Acta Anthropogenet
, vol.9
, pp. 117-121
-
-
Pieniazek, D.1
Kubalska, J.2
Pronicka, E.3
Stecko, E.4
-
341
-
-
0022598044
-
Speech disorders associated with his-tidinemia and other hereditary disorders of amino acid metabolism
-
Raisova, V., and J. Hyanek. Speech disorders associated with his-tidinemia and other hereditary disorders of amino acid metabolism. Folia Phoniatr. 38:43-48, 1986.
-
(1986)
Folia Phoniatr
, vol.38
, pp. 43-48
-
-
Raisova, V.1
Hyanek, J.2
-
343
-
-
0020967285
-
Histidinaemia. Part II: Impact; a retrospective study
-
Rosenmann, A., C. R. Scriver, C. L. Clow, and H. L. Levy. Histidinaemia. Part II: Impact; a retrospective study. J. Inherit. Metab. Dis. 6:54-57, 1983.
-
(1983)
J. Inherit. Metab. Dis
, vol.6
, pp. 54-57
-
-
Rosenmann, A.1
Scriver, C.R.2
Clow, C.L.3
Levy, H.L.4
-
344
-
-
84889629814
-
Histidinemia [Abstract]
-
Shaw, K. N. F., E. Boder, M. Gutenstein, and E. E. Jacobs. Histidinemia [Abstract]. J. Pediatr. 63:720-721, 1963.
-
(1963)
J. Pediatr
, vol.63
, pp. 720-721
-
-
Shaw, K.N.F.1
Boder, E.2
Gutenstein, M.3
Jacobs, E.E.4
-
345
-
-
0016711071
-
Histidinemia with features of the Marfan syndrome
-
Stevens, R., H. E. Cross, and G. Morrow. Histidinemia with features of the Marfan syndrome. J. Pediatr. 86:907-910, 1975.
-
(1975)
J. Pediatr
, vol.86
, pp. 907-910
-
-
Stevens, R.1
Cross, H.E.2
Morrow, G.3
-
346
-
-
0027211802
-
Identification of the mutation in murine histidinemia (his) and genetic mapping of the murine histidase locus (Hal) on chromosome 10
-
Taylor, R. G., D. Gvieco, G. A. Clarke, R. R. McInnes, and B. A. Taylor. Identification of the mutation in murine histidinemia (his) and genetic mapping of the murine histidase locus (Hal) on chromosome 10. Genomics 16:231-240, 1993.
-
(1993)
Genomics
, vol.16
, pp. 231-240
-
-
Taylor, R.G.1
Gvieco, D.2
Clarke, G.A.3
McInnes, R.R.4
Taylor, B.A.5
-
347
-
-
0014983404
-
Histidinemia: detection by routine screening and biochemical observations on three unrelated cases
-
Thalhammer, O., S. Scheibenreiter, and M. Pantlitschko. Histidinemia: detection by routine screening and biochemical observations on three unrelated cases. Z. Kinderheilkd. 109:279-292, 1971.
-
(1971)
Z. Kinderheilkd
, vol.109
, pp. 279-292
-
-
Thalhammer, O.1
Scheibenreiter, S.2
Pantlitschko, M.3
-
348
-
-
0015750058
-
Dietary correction of histidinemia in older children possible
-
Wadman, S. K., P. K. De Bree, J. P. van Biervliet, and F. J. van Sprang. Dietary correction of histidinemia in older children possible. Clin. Chim. Acta 49:377-382, 1973.
-
(1973)
Clin. Chim. Acta
, vol.49
, pp. 377-382
-
-
Wadman, S.K.1
De Bree, P.K.2
Van Biervliet, J.P.3
Van Sprang, F.J.4
-
349
-
-
0014015447
-
Three new cases of histidinemia. Clinical and biochemical data
-
Wadman, S. K., F. J. van Sprang, G. J. van Stekelenburg, and P. K. de Bree. Three new cases of histidinemia. Clinical and biochemical data. Z. Gesamte Innere Med. Ihre Grenzgeb. 21:485-492, 1966.
-
(1966)
Z. Gesamte Innere Med. Ihre Grenzgeb
, vol.21
, pp. 485-492
-
-
Wadman, S.K.1
Van Sprang, F.J.2
Van Stekelenburg, G.J.3
De Bree, P.K.4
-
350
-
-
0014034606
-
Variations in clinical and laboratory findings on his-tidinemia
-
Waisman, H. A. Variations in clinical and laboratory findings on his-tidinemia. Am. J. Dis. Child. 113:93-94, 1967.
-
(1967)
Am. J. Dis. Child
, vol.113
, pp. 93-94
-
-
Waisman, H.A.1
-
351
-
-
84889630059
-
Histidinaemia-evaluation of an improved method for confirmation, and the implications of the diagnosis
-
Wilcken, B., and D. A. Brown. Histidinaemia-evaluation of an improved method for confirmation, and the implications of the diagnosis. Aus. Paediatr. J. 11:126-127, 1975.
-
(1975)
Aus. Paediatr. J
, vol.11
, pp. 126-127
-
-
Wilcken, B.1
Brown, D.A.2
-
352
-
-
0020591963
-
Measurement of the skin urocanic acid content in normal and histidinemic infants
-
Yokoya, S., E. Tokuhiro, S. Suwa, and H. Maesaka. Measurement of the skin urocanic acid content in normal and histidinemic infants. Eur. J. Pediatr. 140:330-332, 1983.
-
(1983)
Eur. J. Pediatr
, vol.140
, pp. 330-332
-
-
Yokoya, S.1
Tokuhiro, E.2
Suwa, S.3
Maesaka, H.4
-
353
-
-
0000343368
-
Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland
-
Carson, N. A. J., and D. W. Neill. Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Arch. Dis. Child. 37:505-513, 1962.
-
(1962)
Arch. Dis. Child
, vol.37
, pp. 505-513
-
-
Carson, N.A.J.1
Neill, D.W.2
-
354
-
-
0018087613
-
A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in vitamin B12 deficient breast-fed infant of a strict vegetarian
-
Higginbottom, M. C., L. Sweetman, and W. L. Nyhan. A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in vitamin B12 deficient breast-fed infant of a strict vegetarian. N. Engl. J. Med. 299:317-323, 1978.
-
(1978)
N. Engl. J. Med
, vol.299
, pp. 317-323
-
-
Higginbottom, M.C.1
Sweetman, L.2
Nyhan, W.L.3
-
355
-
-
0014299811
-
A case of homocystin-uria with noteworthy dermatological features
-
Price, J., C. F. H. Vickers, and B. K. Booker. A case of homocystin-uria with noteworthy dermatological features. J. Ment. Def. Res. 12:111-118, 1968.
-
(1968)
J. Ment. Def. Res
, vol.12
, pp. 111-118
-
-
Price, J.1
Vickers, C.F.H.2
Booker, B.K.3
-
356
-
-
0343061467
-
Inherited disorders of amino acid metabolism
-
In:, 12th ed., Wilson, J. D., E. Braunwald, K. J. Isselbacher, R. G. Petersdorf, J. B. Martin, A. S. Fauci, and R. K, Root (eds.). New York: McGraw-Hill
-
Rosenberg, L. Inherited disorders of amino acid metabolism. In: Harrison's Principles of Internal Medicine, 12th ed., Wilson, J. D., E. Braunwald, K. J. Isselbacher, R. G. Petersdorf, J. B. Martin, A. S. Fauci, and R. K, Root (eds.). New York: McGraw-Hill, 1991, p. 1868-1875.
-
(1991)
Harrison's Principles of Internal Medicine
, pp. 1868-1875
-
-
Rosenberg, L.1
-
357
-
-
0015382643
-
Pyridoxine-dependent hair pigmentation in association with homocystinuria
-
Shelly, W. B., and H. Rawnsley. Pyridoxine-dependent hair pigmentation in association with homocystinuria. Arch. Dermatol. 106: 228-230, 1972.
-
(1972)
Arch. Dermatol
, vol.106
, pp. 228-230
-
-
Shelly, W.B.1
Rawnsley, H.2
-
358
-
-
0026535976
-
Ocular histopathologic characteristics of cobal-amin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria
-
Traboulsi, E. I., J. C. Silva, M. T. Geraghty, I. H. Maumenee, D. Valle, and W. R. Green. Ocular histopathologic characteristics of cobal-amin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria. Am. J. Ophthalmol. 113:269-280, 1992.
-
(1992)
Am. J. Ophthalmol
, vol.113
, pp. 269-280
-
-
Traboulsi, E.I.1
Silva, J.C.2
Geraghty, M.T.3
Maumenee, I.H.4
Valle, D.5
Green, W.R.6
-
359
-
-
0024400717
-
The oculocerebral syndrome in association with generalized hypopigmentation. A case report
-
Castle, D.J., T. Jenkins, and A.A. Shawinsky. The oculocerebral syndrome in association with generalized hypopigmentation. A case report. S. Afr. Med. J. 76:35-36, 1989.
-
(1989)
S. Afr. Med. J
, vol.76
, pp. 35-36
-
-
Castle, D.J.1
Jenkins, T.2
Shawinsky, A.A.3
-
360
-
-
0024423142
-
Oculocerebral hypopigmentation syndrome (Cross syndrome) in a Gipsy child
-
Courtens, W., W. Broeckx, M. Ledoux, and E. Vamos. Oculocerebral hypopigmentation syndrome (Cross syndrome) in a Gipsy child. Acta Paediatr. Scand. 78:806-810, 1989.
-
(1989)
Acta Paediatr. Scand
, vol.78
, pp. 806-810
-
-
Courtens, W.1
Broeckx, W.2
Ledoux, M.3
Vamos, E.4
-
361
-
-
0014062048
-
A new oculocerebral syndrome with hypopigmentation
-
Cross, H.E., V.A. McKusick, and W. Breen. A new oculocerebral syndrome with hypopigmentation. J. Pediatr. 70:398-406, 1967.
-
(1967)
J. Pediatr
, vol.70
, pp. 398-406
-
-
Cross, H.E.1
McKusick, V.A.2
Breen, W.3
-
362
-
-
0026332449
-
Oculocerebral syndrome with hypopigmentation (Cross syndrome): the mixed pattern of hair pigmentation as an important diagnostic sign
-
De Jong, G., and J.P. Fryns. Oculocerebral syndrome with hypopigmentation (Cross syndrome): the mixed pattern of hair pigmentation as an important diagnostic sign. Genet. Couns. 2:151-155, 1991.
-
(1991)
Genet. Couns
, vol.2
, pp. 151-155
-
-
De Jong, G.1
Fryns, J.P.2
-
363
-
-
0018368963
-
Mutations affecting pigmentation in man: I. Neuroectodermal melanolysosomal disease
-
Elejalde, B.R., J. Holguin, A. Valencia, E.F. Gilbert, J. Molina, G. Marin, and L.A. Arango. Mutations affecting pigmentation in man: I. Neuroectodermal melanolysosomal disease. Am. J. Med. Genet. 3:65-80, 1979.
-
(1979)
Am. J. Med. Genet
, vol.3
, pp. 65-80
-
-
Elejalde, B.R.1
Holguin, J.2
Valencia, A.3
Gilbert, E.F.4
Molina, J.5
Marin, G.6
Arango, L.A.7
-
364
-
-
0023785004
-
Oculo-cerebral syndrome with hypopigmentation (Cross syndrome). Report of two siblings born to consanguineous parents
-
Fryns, J.P., A.M. Dereymaeker, G. Heremans, J. Marien, J. van Hauwaert, G. Turner, A. Hockey, and H. van den Berghe. Oculo-cerebral syndrome with hypopigmentation (Cross syndrome). Report of two siblings born to consanguineous parents. Clin. Genet. 34:81-84, 1988.
-
(1988)
Clin. Genet
, vol.34
, pp. 81-84
-
-
Fryns, J.P.1
Dereymaeker, A.M.2
Heremans, G.3
Marien, J.4
Van Hauwaert, J.5
Turner, G.6
Hockey, A.7
Van Den Berghe, H.8
-
365
-
-
0026595973
-
Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case
-
Lerone, M., A. Pessagno, A. Taccone, G. Poggi, G. Romeo, and M.C. Silengo. Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case. Clin. Genet. 41:87-89, 1992.
-
(1992)
Clin. Genet
, vol.41
, pp. 87-89
-
-
Lerone, M.1
Pessagno, A.2
Taccone, A.3
Poggi, G.4
Romeo, G.5
Silengo, M.C.6
-
366
-
-
0003436550
-
Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes
-
11th edn. Baltimore: Johns Hopkins
-
McKusick, V.A. Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes, 11th edn. Baltimore: Johns Hopkins, 1994.
-
(1994)
-
-
McKusick, V.A.1
-
367
-
-
0026235238
-
Oculocerebral hypopigmentation syndrome (Cross syndrome)
-
Ozkan, H., E. Unsal, and G. Kose. Oculocerebral hypopigmentation syndrome (Cross syndrome). Turk. J. Pediatr. 33:247-252, 1991.
-
(1991)
Turk. J. Pediatr
, vol.33
, pp. 247-252
-
-
Ozkan, H.1
Unsal, E.2
Kose, G.3
-
369
-
-
0023119236
-
An ocu-locerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings
-
Patton, M.A., M. Baraitser, A.H. Heagerty, and R.A. Eady. An ocu-locerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings. J. Med. Genet. 24: 118-122, 1987.
-
(1987)
J. Med. Genet
, vol.24
, pp. 118-122
-
-
Patton, M.A.1
Baraitser, M.2
Heagerty, A.H.3
Eady, R.A.4
-
371
-
-
0027509280
-
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
-
Rinchik, E.M., S.J. Bultman, B. Horsthemke, S.T. Lee, K.M. Strunk, R.A. Spritz, K.M. Avidamo, M.T.C. Jong, and R.D. Nicholls. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361:72-76, 1993.
-
(1993)
Nature
, vol.361
, pp. 72-76
-
-
Rinchik, E.M.1
Bultman, S.J.2
Horsthemke, B.3
Lee, S.T.4
Strunk, K.M.5
Spritz, R.A.6
Avidamo, K.M.7
Jong, M.T.C.8
Nicholls, R.D.9
-
372
-
-
0028022094
-
Molecular genetics of oculocutaneous albinism
-
Spritz, R.A. Molecular genetics of oculocutaneous albinism. Hum. Mol. Genet. 3:1469-1475, 1994.
-
(1994)
Hum. Mol. Genet
, vol.3
, pp. 1469-1475
-
-
Spritz, R.A.1
-
373
-
-
0027943189
-
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene
-
Tassabehji, M., V.E. Newton, and A.P. Read. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat. Genet. 8:251-255, 1994.
-
(1994)
Nat. Genet
, vol.8
, pp. 251-255
-
-
Tassabehji, M.1
Newton, V.E.2
Read, A.P.3
-
374
-
-
0030977175
-
A new case of oculocerebral hypopigmentation syndrome (Cross syndrome) with additional findings
-
Tezcan I., E. Demir, E. Asan, G. Kale, S.F. Muftuoglu, and E. Kotiloglu. A new case of oculocerebral hypopigmentation syndrome (Cross syndrome) with additional findings. Clin. Genet. 51:118-121, 1997.
-
(1997)
Clin. Genet
, vol.51
, pp. 118-121
-
-
Tezcan, I.1
Demir, E.2
Asan, E.3
Kale, G.4
Muftuoglu, S.F.5
Kotiloglu, E.6
-
375
-
-
0027325361
-
Oculocerebral hypopigmentation syndrome associated with Bartter syndrome
-
White, C.P., M. Waldron, J.E. Jan, and J.E. Carter. Oculocerebral hypopigmentation syndrome associated with Bartter syndrome. Am. J. Med. Genet. 46:592-596, 1993.
-
(1993)
Am. J. Med. Genet
, vol.46
, pp. 592-596
-
-
White, C.P.1
Waldron, M.2
Jan, J.E.3
Carter, J.E.4
-
376
-
-
84889617596
-
Identification of a mutation in the gene for tyrosinase related protein 1 (TRP1) associated with brown oculocutaneous albinism (OCA3)
-
Abstr.
-
Wildenberg, S.C., R.E. Boissy, W.S. Oetting, J.P. Fryer, H. Zhao, and R.A. King. Identification of a mutation in the gene for tyrosinase related protein 1 (TRP1) associated with brown oculocutaneous albinism (OCA3). Am. J. Hum. Genet. 55 (Suppl.):A5(Abstr.), 1994.
-
(1994)
Am. J. Hum. Genet
, vol.55
, Issue.SUPPL..
-
-
Wildenberg, S.C.1
Boissy, R.E.2
Oetting, W.S.3
Fryer, J.P.4
Zhao, H.5
King, R.A.6
-
377
-
-
0015193213
-
Albinism
-
In:, H. Harris, and K. Hirschhorn (eds). New York: Plenum Press
-
Witkop, C.J.J. Albinism. In: Advances in Human Genetics, H. Harris, and K. Hirschhorn (eds). New York: Plenum Press, 1971, pp. 61-142.
-
(1971)
Advances in Human Genetics
, pp. 61-142
-
-
Witkop, C.J.J.1
-
378
-
-
0028051530
-
Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene
-
Yasumoto, K.-I., K. Yokoyama, K. Shibata, Y. Tomita, and S. Shibahara. Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene. Mol. Cell. Biol. 14:8058-8070, 1994.
-
(1994)
Mol. Cell. Biol
, vol.14
, pp. 8058-8070
-
-
Yasumoto, K.-I.1
Yokoyama, K.2
Shibata, K.3
Tomita, Y.4
Shibahara, S.5
-
379
-
-
0014056474
-
Pigmentary disorders in association with congenital deafness
-
Reed, W. B., V. M. Stone, E. Boder, and L. Ziprkowski. Pigmentary disorders in association with congenital deafness. Arch. Dermatol. 95:176-186, 1967.
-
(1967)
Arch. Dermatol
, vol.95
, pp. 176-186
-
-
Reed, W.B.1
Stone, V.M.2
Boder, E.3
Ziprkowski, L.4
-
380
-
-
0343245112
-
A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance
-
Tietz, W. A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance. Am. J. Hum. Genet. 15:259-264, 1963.
-
(1963)
Am. J. Hum. Genet
, vol.15
, pp. 259-264
-
-
Tietz, W.1
-
381
-
-
0021084577
-
Mutations in humans and animals which affect copper metabolism
-
Camakaris, J., M. Phillips, D. M. Danks, R. Brown, and T. Stevenson. Mutations in humans and animals which affect copper metabolism. J. Inherit. Metab. Dis. 6(Suppl.): 44-50, 1983.
-
(1983)
J. Inherit. Metab. Dis
, vol.6
, Issue.SUPPL..
, pp. 44-50
-
-
Camakaris, J.1
Phillips, M.2
Danks, D.M.3
Brown, R.4
Stevenson, T.5
-
382
-
-
0023759753
-
The mild form of Menkes disease: progress report on the original case
-
Danks, D. M. The mild form of Menkes disease: progress report on the original case. Am. J. Med. Genet. 30:859-864, 1988.
-
(1988)
Am. J. Med. Genet
, vol.30
, pp. 859-864
-
-
Danks, D.M.1
-
383
-
-
84920237666
-
Menkes kinky-hair syndrome
-
Danks, D. M., P. E. Campbell, J. Walker-Smith, B. J. Stevens, J. M. Gillespie, J. Blomfield, and B. Tuner. Menkes kinky-hair syndrome. Lancet 1:1100-1103, 1972.
-
(1972)
Lancet
, vol.1
, pp. 1100-1103
-
-
Danks, D.M.1
Campbell, P.E.2
Walker-Smith, J.3
Stevens, B.J.4
Gillespie, J.M.5
Blomfield, J.6
Tuner, B.7
-
384
-
-
0021251334
-
The failure of parenteral copper therapy in Menkes kinky hair syndrome
-
Garnica, A. D. The failure of parenteral copper therapy in Menkes kinky hair syndrome. Eur. J. Pediatr. 142:98-102, 1984.
-
(1984)
Eur. J. Pediatr
, vol.142
, pp. 98-102
-
-
Garnica, A.D.1
-
385
-
-
0025225636
-
Clinical expression of Menkes syndrome in females
-
Gerdes, A. M., T. Tonnesen, N. Horn, T. Grisar, W. Marg, A. Muller, R. Reinsch, N. W. Barton, P. Guiraud, A. Joannard, M. J. Richard, and F. Guttler. Clinical expression of Menkes syndrome in females. Clin. Genet. 38:452-459, 1990.
-
(1990)
Clin. Genet
, vol.38
, pp. 452-459
-
-
Gerdes, A.M.1
Tonnesen, T.2
Horn, N.3
Grisar, T.4
Marg, W.5
Muller, A.6
Reinsch, R.7
Barton, N.W.8
Guiraud, P.9
Joannard, A.10
Richard, M.J.11
Guttler, F.12
-
386
-
-
0023696983
-
Variability in clinical expression of Menkes syndrome
-
Gerdes, A. M., T. Tonnesen, E. Pergament, C. Sander, K. E. Baerlocher, R. Wartha, F. Guttler, and N. Horn. Variability in clinical expression of Menkes syndrome. Eur. J. Pediatr. 148:132-135, 1988.
-
(1988)
Eur. J. Pediatr
, vol.148
, pp. 132-135
-
-
Gerdes, A.M.1
Tonnesen, T.2
Pergament, E.3
Sander, C.4
Baerlocher, K.E.5
Wartha, R.6
Guttler, F.7
Horn, N.8
-
387
-
-
0018565096
-
Effect of altered copper metabolism induced by mottled alleles and diet on mouse tyrosinase
-
Holstein, T. J., R. Q. Fung, W. C. J. Quevedo, and T. C. Bienieki. Effect of altered copper metabolism induced by mottled alleles and diet on mouse tyrosinase. Proc. Soc. Exp. Biol. Med. 162:264-268, 1979.
-
(1979)
Proc. Soc. Exp. Biol. Med
, vol.162
, pp. 264-268
-
-
Holstein, T.J.1
Fung, R.Q.2
Quevedo, W.C.J.3
Bienieki, T.C.4
-
388
-
-
0019452844
-
Menkes' X-linked disease: prenatal diagnosis of hemizygous males and heterozygous females
-
Horn, N. Menkes' X-linked disease: prenatal diagnosis of hemizygous males and heterozygous females. Prenat. Diagn. 1:107-120, 1981.
-
(1981)
Prenat. Diagn
, vol.1
, pp. 107-120
-
-
Horn, N.1
-
389
-
-
0021054101
-
Menkes' X-linked disease: prenatal diagnosis and carrier detection
-
Horn, N. Menkes' X-linked disease: prenatal diagnosis and carrier detection. J. Inherit. Metab. Dis. 6(Suppl.): 59-62, 1983.
-
(1983)
J. Inherit. Metab. Dis
, vol.6
, Issue.SUPPL..
, pp. 59-62
-
-
Horn, N.1
-
390
-
-
0022914189
-
Menkes syndrome in a girl with X-autosome translocation
-
Kapur, S., J. V. Higgins, K. Delp, and B. Rogers. Menkes syndrome in a girl with X-autosome translocation. Am. J. Med. Genet. 26:503-510, 1987.
-
(1987)
Am. J. Med. Genet
, vol.26
, pp. 503-510
-
-
Kapur, S.1
Higgins, J.V.2
Delp, K.3
Rogers, B.4
-
391
-
-
0028153592
-
Histochemical study of mitochondrial enzymes in cerebellar cortex of macular mutant mouse, a model of Menkes kinky hair disease
-
Kumode, M., T. Yamano, and M. Shimada. Histochemical study of mitochondrial enzymes in cerebellar cortex of macular mutant mouse, a model of Menkes kinky hair disease. Acta Neuropathol. (Berl.) 87:313-316, 1994.
-
(1994)
Acta Neuropathol. (Berl.)
, vol.87
, pp. 313-316
-
-
Kumode, M.1
Yamano, T.2
Shimada, M.3
-
392
-
-
0028247206
-
The mottled gene is the mouse homologue of the Menkes disease gene
-
Levinson, B., C. Vulpe, B. Elder, C. Martin, F. Verley, S. Packman, and J. Gitschier. The mottled gene is the mouse homologue of the Menkes disease gene. Nat. Genet. 6:369-373, 1994.
-
(1994)
Nat. Genet
, vol.6
, pp. 369-373
-
-
Levinson, B.1
Vulpe, C.2
Elder, B.3
Martin, C.4
Verley, F.5
Packman, S.6
Gitschier, J.7
-
393
-
-
78651124591
-
A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration
-
Menkes, J. H., M. Alter, G. K. Steigleder, D. R. Weakley, and J. H. Sung. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics 29:764-779, 1962.
-
(1962)
Pediatrics
, vol.29
, pp. 764-779
-
-
Menkes, J.H.1
Alter, M.2
Steigleder, G.K.3
Weakley, D.R.4
Sung, J.H.5
-
394
-
-
0022338262
-
Ectodermal manifestations in Menkes disease
-
Moore, C. M., and R. R. Howell. Ectodermal manifestations in Menkes disease. Clin. Genet. 28:532-540, 1985.
-
(1985)
Clin. Genet
, vol.28
, pp. 532-540
-
-
Moore, C.M.1
Howell, R.R.2
-
395
-
-
0023785090
-
Menkes' disease: long-term treatment with copper and d-penicillamine
-
Nadal, D., and K. Baerlocher. Menkes' disease: long-term treatment with copper and d-penicillamine. Eur. J. Pediatr. 147:621-625, 1988.
-
(1988)
Eur. J. Pediatr
, vol.147
, pp. 621-625
-
-
Nadal, D.1
Baerlocher, K.2
-
397
-
-
0021749534
-
Copper utilization in cultured fibroblasts of the mottled mouse, an animal model for Menkes' kinky hair syndrome
-
Packman, S., P. Clin, and C. O'Toole. Copper utilization in cultured fibroblasts of the mottled mouse, an animal model for Menkes' kinky hair syndrome. J. Inherit. Metab. Dis. 7:168-170, 1984.
-
(1984)
J. Inherit. Metab. Dis
, vol.7
, pp. 168-170
-
-
Packman, S.1
Clin, P.2
O'Toole, C.3
-
398
-
-
0025760505
-
Identification of proteins involved in intracellular copper metabolism. Low levels of an approximately 48-kDa copper-binding protein in the brindled mouse model of Menkes disease
-
Palida, F. A., and M. J. Ettinger. Identification of proteins involved in intracellular copper metabolism. Low levels of an approximately 48-kDa copper-binding protein in the brindled mouse model of Menkes disease. J. Biol. Chem. 266:4586-4592, 1991.
-
(1991)
J. Biol. Chem
, vol.266
, pp. 4586-4592
-
-
Palida, F.A.1
Ettinger, M.J.2
-
399
-
-
0024679694
-
Enamel defects in a case of Menkes' syndrome
-
Pallotta, R., F. Del Rossa, S. Domizio, G. Carlone, and A. Petrucci. Enamel defects in a case of Menkes' syndrome. Acta Stomatol. Belg. 86:33-36, 1989.
-
(1989)
Acta Stomatol. Belg
, vol.86
, pp. 33-36
-
-
Pallotta, R.1
Del Rossa, F.2
Domizio, S.3
Carlone, G.4
Petrucci, A.5
-
400
-
-
0030914460
-
Griselli disease maps to chromasome 15q21 and is associated with mutations in the Myosin-Va gene
-
Pastural, E., F. J. Barrat, R. Dufourtq-Lagelouse, S. Certain, O. Sajal, N. Jabado, R. Seger, C. Griscelli, A. Fischer, and G. de Saint Basile. Griselli disease maps to chromasome 15q21 and is associated with mutations in the Myosin-Va gene. Nature Genet. 16:289, 1997.
-
(1997)
Nature Genet
, vol.16
, pp. 289
-
-
Pastural, E.1
Barrat, F.J.2
Dufourtq-Lagelouse, R.3
Certain, S.4
Sajal, O.5
Jabado, N.6
Seger, R.7
Griscelli, C.8
Fischer, A.9
De Saint Basile, G.10
-
401
-
-
0021021242
-
Alterations in copper and collagen metabolism in the Menkes syndrome and a new subtype of the Ehlers-Danlos syndrome
-
Peltonen, L., H. Kuivaniemi, A. Palotie, N. Horn, I. Kaitila, and K. I. Kivirikko. Alterations in copper and collagen metabolism in the Menkes syndrome and a new subtype of the Ehlers-Danlos syndrome. Biochemistry 22:6156-6163, 1983.
-
(1983)
Biochemistry
, vol.22
, pp. 6156-6163
-
-
Peltonen, L.1
Kuivaniemi, H.2
Palotie, A.3
Horn, N.4
Kaitila, I.5
Kivirikko, K.I.6
-
402
-
-
0014348347
-
The cross-linking of collagen and elastin: enzymatic conversion of lysine in peptide linkage to alpha-aminoadipic-delta-semialdehyde (allysne) by an extract from bone
-
Pinnell, S. R., and G. R. Martin. The cross-linking of collagen and elastin: enzymatic conversion of lysine in peptide linkage to alpha-aminoadipic-delta-semialdehyde (allysne) by an extract from bone. Proc. Natl. Acad. Sci. U. S. A. 61:708-716, 1968.
-
(1968)
Proc. Natl. Acad. Sci. U. S. A
, vol.61
, pp. 708-716
-
-
Pinnell, S.R.1
Martin, G.R.2
-
403
-
-
0025551226
-
Effects of copper deficiency on the immune system
-
Prohaska, J. R., and O. A. Lukasewycz. Effects of copper deficiency on the immune system. Adv. Exp. Med. Biol. 262:123-143, 1990.
-
(1990)
Adv. Exp. Med. Biol
, vol.262
, pp. 123-143
-
-
Prohaska, J.R.1
Lukasewycz, O.A.2
-
404
-
-
0019962731
-
Metallothionein accumulation may account for intracellular copper retention in Menkes' disease
-
Riordan, J. R., and L. Jolicoeur-Paquet. Metallothionein accumulation may account for intracellular copper retention in Menkes' disease. J. Biol. Chem. 257:4639-4645, 1982.
-
(1982)
J. Biol. Chem
, vol.257
, pp. 4639-4645
-
-
Riordan, J.R.1
Jolicoeur-Paquet, L.2
-
405
-
-
0025336606
-
Markedly reduced activity of lysyl oxidase in skin and aorta from a patient with Menkes' disease showing unusually severe connective tissue manifestations
-
Royce, P. M., and B. Steinmann. Markedly reduced activity of lysyl oxidase in skin and aorta from a patient with Menkes' disease showing unusually severe connective tissue manifestations. Pediatr. Res. 28:137-141, 1990.
-
(1990)
Pediatr. Res
, vol.28
, pp. 137-141
-
-
Royce, P.M.1
Steinmann, B.2
-
406
-
-
0023853131
-
Life-span and Menkes kinky hair syndrome: report of a 13-year course of this disease
-
Sanders, C., H. Niederhoff, and N. Horn. Life-span and Menkes kinky hair syndrome: report of a 13-year course of this disease. Clin. Genet. 33:228-233, 1988.
-
(1988)
Clin. Genet
, vol.33
, pp. 228-233
-
-
Sanders, C.1
Niederhoff, H.2
Horn, N.3
-
408
-
-
0024831274
-
Copper histidinate therapy in Menkes' disease: prevention of progressive neurodegeneration
-
Sherwood, G., B. Sarkar, and A. S. Kortsak. Copper histidinate therapy in Menkes' disease: prevention of progressive neurodegeneration. J. Inherit. Metab. Dis. 12(Suppl.): 393-396, 1989.
-
(1989)
J. Inherit. Metab. Dis
, vol.12
, Issue.SUPPL..
, pp. 393-396
-
-
Sherwood, G.1
Sarkar, B.2
Kortsak, A.S.3
-
409
-
-
0024318319
-
Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism
-
Tonnesen, T., and N. Horn. Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism. J. Inherit. Metab. Dis. 12(Suppl.): 207-214, 1989.
-
(1989)
J. Inherit. Metab. Dis
, vol.12
, Issue.SUPPL..
, pp. 207-214
-
-
Tonnesen, T.1
Horn, N.2
-
411
-
-
0020030885
-
Menkes' kinky hair disease. II. A clinicopathological report of three cases
-
Troost, D., A. Van Rossum, W. Straks, and J. Willemse. Menkes' kinky hair disease. II. A clinicopathological report of three cases. Brain Dev. 4:115-126, 1982.
-
(1982)
Brain Dev
, vol.4
, pp. 115-126
-
-
Troost, D.1
Van Rossum, A.2
Straks, W.3
Willemse, J.4
-
412
-
-
0029062630
-
Characterization of the exon structure of the Menkes disease gene using vectorette PCR
-
Tumer, Z., B. Vural, T. Tonnesen, J. Chelly, A. P. Monaco, and N. Horn. Characterization of the exon structure of the Menkes disease gene using vectorette PCR. Genomics 26:437-442, 1995.
-
(1995)
Genomics
, vol.26
, pp. 437-442
-
-
Tumer, Z.1
Vural, B.2
Tonnesen, T.3
Chelly, J.4
Monaco, A.P.5
Horn, N.6
-
413
-
-
0027446365
-
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase
-
Vulpe, C., B. Levinson, S. Whitney, S. Packman, and J. Gitschier. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat. Genet. 3:7-13, 1993.
-
(1993)
Nat. Genet
, vol.3
, pp. 7-13
-
-
Vulpe, C.1
Levinson, B.2
Whitney, S.3
Packman, S.4
Gitschier, J.5
-
414
-
-
0024043305
-
Atypical Menkes steely hair disease
-
Westman, J. A., D. C. Richardson, O. M. Rennert, and G. Morrow III. Atypical Menkes steely hair disease. Am. J. Med. Genet. 30:853-858, 1988.
-
(1988)
Am. J. Med. Genet
, vol.30
, pp. 853-858
-
-
Westman, J.A.1
Richardson, D.C.2
Rennert, O.M.3
Morrow III, G.4
-
415
-
-
0027270801
-
Spectrum of EEG findings in Menkes disease
-
White, S. R., K. Reese, S. Sato, and S. G. Kaler. Spectrum of EEG findings in Menkes disease. Electroencephalogr. Clin. Neurophysiol. 87:57-61, 1993.
-
(1993)
Electroencephalogr. Clin. Neurophysiol
, vol.87
, pp. 57-61
-
-
White, S.R.1
Reese, K.2
Sato, S.3
Kaler, S.G.4
-
416
-
-
0020665009
-
Copper-binding proteins in the liver and kidney from the patients with Menkes' kinky hair disease
-
Yazaki, M., Y. Wada, Y. Kojima, A. Tanaka, G. Isshiki, N. Kawamura, and M. Hirose. Copper-binding proteins in the liver and kidney from the patients with Menkes' kinky hair disease. Tohoku J. Exp. Med. 139:97-102, 1983.
-
(1983)
Tohoku J. Exp. Med
, vol.139
, pp. 97-102
-
-
Yazaki, M.1
Wada, Y.2
Kojima, Y.3
Tanaka, A.4
Isshiki, G.5
Kawamura, N.6
Hirose, M.7
-
417
-
-
0028851390
-
Histochemi-cal localization of copper in various organs of brindled mice after copper therapy
-
Yoshimura, N., K. Kida, S. Usutani, and M. Nishimura. Histochemi-cal localization of copper in various organs of brindled mice after copper therapy. Pathol. Int. 45:10-18, 1995.
-
(1995)
Pathol. Int
, vol.45
, pp. 10-18
-
-
Yoshimura, N.1
Kida, K.2
Usutani, S.3
Nishimura, M.4
-
418
-
-
0017928908
-
Cutaneous dyschromia in three cases of phenylketonuria
-
Bechelli, L. M., R. P. Goncalves, A. M. Tanaka, and P. M. Pagnano. Cutaneous dyschromia in three cases of phenylketonuria. Ann. Dermatol. Venereol. 105:165-173, 1978.
-
(1978)
Ann. Dermatol. Venereol
, vol.105
, pp. 165-173
-
-
Bechelli, L.M.1
Goncalves, R.P.2
Tanaka, A.M.3
Pagnano, P.M.4
-
420
-
-
33745897759
-
Abnormalities of the melanin pigmentary system
-
In:, T. B. Fitzpatrick, K. A. Arndt, W. H. Clark, Jr., A. Z. Eisen, E. J. Van Scott, and J. H. Vaughan (eds.). New York: McGraw-Hill
-
Fitzpatrick, T. B., and M. C. Mihm. Abnormalities of the melanin pigmentary system. In: Dermatology in General Medicine, T. B. Fitzpatrick, K. A. Arndt, W. H. Clark, Jr., A. Z. Eisen, E. J. Van Scott, and J. H. Vaughan (eds.). New York: McGraw-Hill, 1971, pp. 1606-1609.
-
(1971)
Dermatology in General Medicine
, pp. 1606-1609
-
-
Fitzpatrick, T.B.1
Mihm, M.C.2
-
421
-
-
0015828098
-
The skin in genetically-controlled metabolic disorders
-
Newbold, P. C. H. The skin in genetically-controlled metabolic disorders. J. Med. Genet. 10:101-111, 1973.
-
(1973)
J. Med. Genet
, vol.10
, pp. 101-111
-
-
Newbold, P.C.H.1
-
422
-
-
0343061467
-
Inherited disorders of amino acid metabolism
-
In:, 12th ed., J. D. Wilson, E. Braunwald, K. J. Isselbacher, R. G. Petersdorf, J. B. Martin, A. S. Fauci, and R. K. Root (eds.). New York: McGraw-Hill
-
Rosenberg, L. Inherited disorders of amino acid metabolism. In: Harrison's Principles of Internal Medicine, 12th ed., J. D. Wilson, E. Braunwald, K. J. Isselbacher, R. G. Petersdorf, J. B. Martin, A. S. Fauci, and R. K. Root (eds.). New York: McGraw-Hill, 1991, pp. 1868-1875.
-
(1991)
Harrison's Principles of Internal Medicine
, pp. 1868-1875
-
-
Rosenberg, L.1
|