-
1
-
-
0028124905
-
Vision and cognition in the natural philosophy of albert the great (Albertus magnus)
-
Theiss P, Grusser O. Vision and cognition in the natural philosophy of Albert the Great (Albertus Magnus). Doc Ophthalmol 1994;86(2):123-51.
-
(1994)
Doc Ophthalmol
, vol.86
, Issue.2
, pp. 123-151
-
-
Theiss, P.1
Grusser, O.2
-
2
-
-
0000835707
-
Cone degeneration (’bull’s eye dystrophies’) and colour vision defects
-
Newsome DA, editor, New York: Raven Press
-
Weleber RG, Eisner A. Cone degeneration (’bull’s eye dystrophies’) and colour vision defects. In: Newsome DA, editor. Retinal dystrophies and degenerations. New York: Raven Press, 1988:233-56.
-
(1988)
Retinal Dystrophies and Degenerations
, pp. 233-256
-
-
Weleber, R.G.1
Eisner, A.2
-
3
-
-
0010751762
-
Psychophysics of inherited colour vision deficiencies
-
Foster D, editor, Basingstoke: Macmillan Press
-
Ruddock KH. Psychophysics of inherited colour vision deficiencies. In: Foster D, editor. Inherited and acquired colour vision deficiencies. Basingstoke: Macmillan Press, 1991:4-37.
-
(1991)
Inherited and Acquired Colour Vision Deficiencies
, pp. 4-37
-
-
Ruddock, K.H.1
-
4
-
-
2442726482
-
Genetics of inherited colour vision deficiencies
-
Foster D, editor, Basingstoke: Macmillan Press
-
Piantanida T. Genetics of inherited colour vision deficiencies. In: Foster D, editor. Inherited and acquired colour vision deficiencies. Basingstoke: Macmillan Press, 1991:88-114.
-
(1991)
Inherited and Acquired Colour Vision Deficiencies
, pp. 88-114
-
-
Piantanida, T.1
-
5
-
-
0027106143
-
Visual pigments and inherited variation in human vision
-
Nathans J, Sung CH, Weitz CJ, Davenport CM, Merbs SL, Wang Y. Visual pigments and inherited variation in human vision. Soc Gen Physiol Ser 1992;47:109-31.
-
(1992)
Soc Gen Physiol Ser
, vol.47
, pp. 109-131
-
-
Nathans, J.1
Sung, C.H.2
Weitz, C.J.3
Davenport, C.M.4
Merbs, S.L.5
Wang, Y.6
-
6
-
-
0013439655
-
’… Aus dreyerley arten von membranen oder molekiilen’: George palmer’s legacy
-
Cavonius CR, editor, Dordrecht: Kluwer
-
Mollon JD. ’… aus dreyerley Arten von Membranen oder Molekiilen’: George Palmer’s legacy. In: Cavonius CR, editor. Colour vision deficiencies XIII. Dordrecht: Kluwer, 1997:3-20.
-
(1997)
Colour Vision Deficiencies XIII
, pp. 3-20
-
-
Mollon, J.D.1
-
7
-
-
2642657406
-
Cone dysfunction syndromes defined by colour vision
-
editor. Colour vision deficiencies V. Bristol: Adam Hilger
-
Smith VC, Pokorny J. Cone dysfunction syndromes defined by colour vision. In: Verriest G, editor. Colour vision deficiencies V. Bristol: Adam Hilger, 1980:69-82.
-
(1980)
Verriest G
, pp. 69-82
-
-
Smith, V.C.1
Pokorny, J.2
-
8
-
-
0042599006
-
The photoreceptors in the achromat
-
Hess RF, Sharpe LT, Nordby K, editors, Cambridge: Cambridge University Press
-
Sharpe LT, Nordby K. The photoreceptors in the achromat. In: Hess RF, Sharpe LT, Nordby K, editors. Night vision. Cambridge: Cambridge University Press, 1990:335-82.
-
(1990)
Night Vision
, pp. 335-382
-
-
Sharpe, L.T.1
Nordby, K.2
-
11
-
-
0003602146
-
Demonstration microscopischer praparate von einem monochromatischen auge
-
Larsen H. Demonstration microscopischer Praparate von einem monochromatischen Auge. Klin Monatsbl Augenheilkd 1921;67:301-2.
-
(1921)
Klin Monatsbl Augenheilkd
, vol.67
, pp. 301-302
-
-
Larsen, H.1
-
12
-
-
0001091427
-
Congenital total color blindness: A clinicopathological report
-
Harrison R, Hoefnagel D, Hayward JN. Congenital total color blindness: a clinicopathological report. Arch Ophthalmol 1960;64:685-92.
-
(1960)
Arch Ophthalmol
, vol.64
, pp. 685-692
-
-
Harrison, R.1
Hoefnagel, D.2
Hayward, J.N.3
-
13
-
-
0013815678
-
Typical total monochromacy: A histological and psychophysical study
-
Falls HF, Wolter JR, Alpern M. Typical total monochromacy: a histological and psychophysical study. Arch Ophthalmol 1965;74:610-6.
-
(1965)
Arch Ophthalmol
, vol.74
, pp. 610-616
-
-
Falls, H.F.1
Wolter, J.R.2
Alpern, M.3
-
14
-
-
0016709855
-
Receptors in the monochromatic eye
-
Glickstein M, Heath GG. Receptors in the monochromatic eye. Vision Res 1975;15:633-6.
-
(1975)
Vision Res
, vol.15
, pp. 633-636
-
-
Glickstein, M.1
Heath, G.G.2
-
15
-
-
2642636971
-
The enigma of typical total monochromacy
-
Alpern M, Falls H, Lee GB. The enigma of typical total monochromacy. Am J Ophthalmol 1960;50:326-42.
-
(1960)
Am J Ophthalmol
, vol.50
, pp. 326-342
-
-
Alpern, M.1
Falls, H.2
Lee, G.B.3
-
16
-
-
2642684657
-
Comparison of cases of atypical and typical achromatopsia
-
Sloan LL, Newhall SM. Comparison of cases of atypical and typical achromatopsia. Am J Ophthalmol 1942;25:945-61.
-
(1942)
Am J Ophthalmol
, vol.25
, pp. 945-961
-
-
Sloan, L.L.1
Newhall, S.M.2
-
17
-
-
0343042894
-
Congenital achromatopsia: A report of 19 cases
-
Sloan LL. Congenital achromatopsia: a report of 19 cases. J Opt Soc Am 1954;44:117-28.
-
(1954)
J Opt Soc Am
, vol.44
, pp. 117-128
-
-
Sloan, L.L.1
-
18
-
-
0002608083
-
Rod and cone receptor mechanisms in typical and atypical achromatopsia
-
Blackwell HR, Blackwell OM. Rod and cone receptor mechanisms in typical and atypical achromatopsia. Vision Res 1961;1:62-107.
-
(1961)
Vision Res
, vol.1
, pp. 62-107
-
-
Blackwell, H.R.1
Blackwell, O.M.2
-
19
-
-
0016372652
-
Achromatopsia with amblyopia. Ii. A psychophysical study of 5 cases
-
Auerbach E, Krikpke B. Achromatopsia with amblyopia. II. A psychophysical study of 5 cases. Doc Ophthalmol 1974;37(1):119-44.
-
(1974)
Doc Ophthalmol
, vol.37
, Issue.1
, pp. 119-144
-
-
Auerbach, E.1
Krikpke, B.2
-
20
-
-
0005459887
-
The visual functions of a completely colorblind person
-
Hecht S, Shlaer S, Smith EL, Haig C, Peskin JC The visual functions of a completely colorblind person. Am J Physiol 1938;123:94-5.
-
(1938)
Am J Physiol
, vol.123
, pp. 94-95
-
-
Hecht, S.1
Shlaer, S.2
Smith, E.L.3
Haig, C.4
Peskin, J.C.5
-
21
-
-
0000027086
-
The visual functions of the complete colorblind
-
Hecht S, Shlaer S, Smith EL, Haig C, Peskin JC The visual functions of the complete colorblind. J Gen Physiol 1948;31:459-72.
-
(1948)
J Gen Physiol
, vol.31
, pp. 459-472
-
-
Hecht, S.1
Shlaer, S.2
Smith, E.L.3
Haig, C.4
Peskin, J.C.5
-
22
-
-
2642700050
-
Large field spectral sensitivity in congenital and acquired achromatopsia
-
editor. Colour vision deficiencies VI. The Hague: Junk
-
Krastel H, Jaeger W. Large field spectral sensitivity in congenital and acquired achromatopsia. In: Verriest G, editor. Colour vision deficiencies VI. The Hague: Junk, 1982:329-32.
-
(1982)
Verriest G
, pp. 329-332
-
-
Krastel, H.1
Jaeger, W.2
-
23
-
-
0030915701
-
Kanis ab, et al. Homozygosity mapping of achromatopsia to chromosome 2 using dna pooling
-
Arbour NC, Zlotogora J, Knowlton RG, Merin S, Rosenmann A, Kanis AB, et al. Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. Hum Mol Genet 1997;6:689-94.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 689-694
-
-
Arbour, N.C.1
Zlotogora, J.2
Knowlton, R.G.3
Merin, S.4
Rosenmann, A.5
-
24
-
-
0026574487
-
Maternal uniparental isodisomy of chromosome 14: Association with autosomal recessive rod monochromacy
-
Pentao L, Lewis RA, Ledbetter DH, Patel PI, Lupski JR. Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. Am J Hum Genet 1992;50:690-9.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 690-699
-
-
Pentao, L.1
Lewis, R.A.2
Ledbetter, D.H.3
Patel, P.I.4
Lupski, J.R.5
-
25
-
-
0018357448
-
Eight cases of congenital achromatopsia with amblyopia in two pedigrees from northern sweden
-
Polland W, Nordstrom S. Eight cases of congenital achromatopsia with amblyopia in two pedigrees from Northern Sweden. Acta Ophthalmol (Copenh) 1979;57:653-64.
-
(1979)
Acta Ophthalmol (Copenh)
, vol.57
, pp. 653-664
-
-
Polland, W.1
Nordstrom, S.2
-
26
-
-
84939682801
-
Different expressions of one gene for congenital achromatopsia with amblyopia in northern sweden
-
Nordstrom S, Polland W. Different expressions of one gene for congenital achromatopsia with amblyopia in Northern Sweden. Hum Hered 1980;30:122-8.
-
(1980)
Hum Hered
, vol.30
, pp. 122-128
-
-
Nordstrom, S.1
Polland, W.2
-
28
-
-
0018134895
-
Autosomal recessive incomplete achromatopsia with protan luminosity
-
Smith VC, Pokorny J, Newell FW. Autosomal recessive incomplete achromatopsia with protan luminosity. Ophthalmologica 1978;177:197-207.
-
(1978)
Ophthalmologica
, vol.177
, pp. 197-207
-
-
Smith, V.C.1
Pokorny, J.2
Newell, F.W.3
-
29
-
-
0018408148
-
Autosomal recessive incomplete achromatopsia with deutan luminosity
-
Smith VC, Pokorny J, Newell FW. Autosomal recessive incomplete achromatopsia with deutan luminosity. Am J Ophthalmol 1979;87:393-402.
-
(1979)
Am J Ophthalmol
, vol.87
, pp. 393-402
-
-
Smith, V.C.1
Pokorny, J.2
Newell, F.W.3
-
30
-
-
0019814288
-
De vries-de mol ec a case of incomplete achromatopsia of the deutan type
-
van Norren D, de Vries-de Mol EC A case of incomplete achromatopsia of the deutan type. Doc Ophthalmol 1981;51:365-72.
-
(1981)
Doc Ophthalmol
, vol.51
, pp. 365-372
-
-
Van Norren, D.1
-
31
-
-
2642659494
-
Etude pathophysiologique et genetique de la grande famille d’achromates de i’lle de fur (Danemark) (description d’une nouvelle famille avec achromatopsie totale chez le fils aine et achromatopsie incomplete chez le frere cadet)
-
Franceschetti A, Jaeger W, Klein D, Ohrt V, Rickli H. Etude pathophysiologique et genetique de la grande famille d’achromates de I’lle de fur (Danemark) (Description d’une nouvelle famille avec achromatopsie totale chez le fils aine et achromatopsie incomplete chez le frere cadet). XVIII Concilium Ophthalmologicum Belgica vol 2, 1958;1582-8.
-
(1958)
XVIII Concilium Ophthalmologicum Belgica
, vol.2
, pp. 1582-1588
-
-
Franceschetti, A.1
Jaeger, W.2
Klein, D.3
Ohrt, V.4
Rickli, H.5
-
32
-
-
8344230824
-
Achromatopsia congenita
-
Waardenburg PJ, Franceschetti A, Klein D, editors, The Netherlands: Royal van Gorkum
-
Waardenburg PJ. Achromatopsia congenita. In: Waardenburg PJ, Franceschetti A, Klein D, editors. Genetics and ophthalmology. Assen, The Netherlands: Royal van Gorkum, 1969:1696-718.
-
(1969)
Genetics and Ophthalmology. Assen
, pp. 1696-1718
-
-
Waardenburg, P.J.1
-
33
-
-
2642627793
-
The blue cone electroretinogram isolated in a sex-linked achromat
-
Drum B, Verriest G, editors, Dordecht: Kluwer
-
Gouras P, Mackay CJ, Lewis AL. The blue cone electroretinogram isolated in a sex-linked achromat. In: Drum B, Verriest G, editors. Colour vision deficiencies IX. Dordecht: Kluwer, 1989:89-93.
-
(1989)
Colour Vision Deficiencies IX
, pp. 89-93
-
-
Gouras, P.1
Mackay, C.J.2
Lewis, A.L.3
-
35
-
-
0025862417
-
Is colour vision possible with only rods and blue-sensitive cones?
-
Reitner A, Sharpe L, Zrenner E. Is colour vision possible with only rods and blue-sensitive cones? Nature 1991;352:798-800.
-
(1991)
Nature
, vol.352
, pp. 798-800
-
-
Reitner, A.1
Sharpe, L.2
Zrenner, E.3
-
36
-
-
0018409632
-
Typical and atypical monochromacy studied by specific quantitative perimetry
-
Hansen E. Typical and atypical monochromacy studied by specific quantitative perimetry. Acta Ophthalmol (Copenh) 1979;57:211-24.
-
(1979)
Acta Ophthalmol (Copenh)
, vol.57
, pp. 211-224
-
-
Hansen, E.1
-
38
-
-
0026726294
-
Berson test for blue cone monochromatism
-
Pinckers A. Berson test for blue cone monochromatism. Int Ophthalmol 1992;16:185-6.
-
(1992)
Int Ophthalmol
, vol.16
, pp. 185-186
-
-
Pinckers, A.1
-
39
-
-
0020622033
-
X-linked incomplete achromatopsia with more than one class of functional cones
-
Smith VC, Pokorny J, Delleman JW, Cozijnsen M, Houtman WA, Went LN. X-linked incomplete achromatopsia with more than one class of functional cones. Invest Ophthalmol Vis Sci 1983;24:451-7.
-
(1983)
Invest Ophthalmol Vis Sci
, vol.24
, pp. 451-457
-
-
Smith, V.C.1
Pokorny, J.2
Delleman, J.W.3
Cozijnsen, M.4
Houtman, W.A.5
Went, L.N.6
-
43
-
-
0024449541
-
Litt m, et al. Molecular genetics of human blue cone monochromacy
-
Nathans J, Davenport CM, Maumenee IH, Lewis RA, Hejtmancik JF, Litt M, et al. Molecular genetics of human blue cone monochromacy. Science 1989;245:831-8.
-
(1989)
Science
, vol.245
, pp. 831-838
-
-
Nathans, J.1
Davenport, C.M.2
Maumenee, I.H.3
Lewis, R.A.4
Hejtmancik, J.F.5
-
44
-
-
0030989279
-
Mutation of a conserved cysteine in the x-linked cone opsins causes color vision deficiencies by disrupting protein folding and stability
-
Kazmi MA, Sakmar TP, Ostrer H. Mutation of a conserved cysteine in the X-linked cone opsins causes color vision deficiencies by disrupting protein folding and stability. Invest Ophthalmol Vis Sci 1997;38:1074-81.
-
(1997)
Invest Ophthalmol Vis Sci
, vol.38
, pp. 1074-1081
-
-
Kazmi, M.A.1
Sakmar, T.P.2
Ostrer, H.3
-
45
-
-
0027436009
-
Lewis ^a, et al. Genetic heterogeneity among blue-cone monochromats
-
Nathans J, Maumenee IH, Zrenner E, Sadowski B, Sharpe LT, Lewis ^A, et al. Genetic heterogeneity among blue-cone monochromats. Am J Hum Genet 1993;53:987-1000.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 987-1000
-
-
Nathans, J.1
Maumenee, I.H.2
Zrenner, E.3
Sadowski, B.4
Sharpe, L.T.5
-
46
-
-
0029157204
-
Gene conversion between red and defective green opsin gene in blue cone monochromacy
-
Reyniers T, van Theinen MN, De Boulle K, Dvries K, Restelijn P, Willems PJ. Gene conversion between red and defective green opsin gene in blue cone monochromacy. Genomics 1995;29:323-8.
-
(1995)
Genomics
, vol.29
, pp. 323-328
-
-
Reyniers, T.1
Van Theinen, M.N.2
De Boulle, K.3
Dvries, K.4
Restelijn, P.5
Willems, P.J.6
-
48
-
-
0019436216
-
Congenital x-linked incomplete achromatopsia: Evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus
-
Fleischman JA, O’Donnell FEJ. Congenital X-linked incomplete achromatopsia: evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus. Arch Ophthalmol 1981;99:468-72.
-
(1981)
Arch Ophthalmol
, vol.99
, pp. 468-472
-
-
Fleischman, J.A.1
O’Donnell, F.E.J.2
-
49
-
-
0013911556
-
Atypical achromatopsia of sex-linked recessive inheritance
-
Francois J, Verriest G, Matton-van Leuven MT, De Rouck A, Manavian D. Atypical achromatopsia of sex-linked recessive inheritance. Am J Ophthalmol 1966;61:1101-8.
-
(1966)
Am J Ophthalmol
, vol.61
, pp. 1101-1108
-
-
Francois, J.1
Verriest, G.2
Matton-Van Leuven, M.T.3
De Rouck, A.4
Manavian, D.5
-
51
-
-
2642652333
-
Cone-monochromatism
-
Weale RA. Cone-monochromatism. J Physiol (Lond) 1953;113:115-22.
-
(1953)
J Physiol (Lond)
, vol.113
, pp. 115-122
-
-
Weale, R.A.1
-
52
-
-
0344919861
-
Defects of the colour-sense mechanism as indicated by the accommodation reflex
-
Fincham E. Defects of the colour-sense mechanism as indicated by the accommodation reflex. J Physiol (Lond) 1953;121:570-80.
-
(1953)
J Physiol (Lond)
, vol.121
, pp. 570-580
-
-
Fincham, E.1
-
53
-
-
0942297484
-
Visual mechanisms in a cone monochromat
-
Gibson IM. Visual mechanisms in a cone monochromat. J Physiol (Lond) 1962;162:110-11.
-
(1962)
J Physiol (Lond)
, vol.162
, pp. 110-111
-
-
Gibson, I.M.1
-
54
-
-
0013899025
-
The electroretinogram of a cone monochromat
-
Ikeda H, Ripps H. The electroretinogram of a cone monochromat. Arch Ophthalmol 1966;75:513-7.
-
(1966)
Arch Ophthalmol
, vol.75
, pp. 513-517
-
-
Ikeda, H.1
Ripps, H.2
-
55
-
-
0000316705
-
Photo-sensitive reactions in foveae of normal and cone monochromatic observers
-
Weale RA. Photo-sensitive reactions in foveae of normal and cone monochromatic observers. Optica Acta 1959;6:158-74.
-
(1959)
Optica Acta
, vol.6
, pp. 158-174
-
-
Weale, R.A.1
-
57
-
-
0002210769
-
Genetics of congenital colour deficiencies
-
Jameson D, Hurvich LM, editors, Berlin: Springer
-
Jaeger W. Genetics of congenital colour deficiencies. In: Jameson D, Hurvich LM, editors. Visual psychophysics. Berlin: Springer, 1972:626-42.
-
(1972)
Visual Psychophysics
, pp. 626-642
-
-
Jaeger, W.1
-
58
-
-
0016140467
-
What is it that confines in a world without color?
-
Alpern M. What is it that confines in a world without color? Invest Ophthalmol Vis Sci 1977;13:648-74.
-
(1977)
Invest Ophthalmol Vis Sci
, vol.13
, pp. 648-674
-
-
Alpern, M.1
-
59
-
-
0942297486
-
Combined forms of congenital colour defects: A pedigree with atypical total colour blindness
-
Crone RA. Combined forms of congenital colour defects: a pedigree with atypical total colour blindness. Br J Ophthalmol 1956;40:462-72.
-
(1956)
Br J Ophthalmol
, vol.40
, pp. 462-472
-
-
Crone, R.A.1
-
60
-
-
0942297482
-
General cone dysfunction without achromatopsia
-
Verriest G, editor, ISCERG Symposium, Los Angeles
-
van Lith G. General cone dysfunction without achromatopsia. In: Verriest G, editor. Doc Ophthalmol Proc Ser X, ISCERG Symposium, Los Angeles, 1973:175-80.
-
(1973)
Doc Ophthalmol Proc Ser X
, pp. 175-180
-
-
Van Lith, G.1
-
61
-
-
2642635944
-
Foveal densitometry and colour matching in oligocone trichromacy
-
Drum B, editor
-
Keunen JEE, DeBrabandere SRS, Liem ATA. Foveal densitometry and colour matching in oligocone trichromacy. In: Drum B, editor. Color vision deficiencies XII, 1995:202-3.
-
(1995)
Color Vision Deficiencies XII
, pp. 202-203
-
-
Keunen, J.1
DeBrabandere, S.2
Liem, A.T.A.3
-
62
-
-
0018255820
-
Differential diagnosis of typical and atypical congenital achromatopsia
-
Neuhann T, Krastel H, Jaeger W. Differential diagnosis of typical and atypical congenital achromatopsia. Graefes Arch Clin Exp Ophthalmol 1978;209:19-28.
-
(1978)
Graefes Arch Clin Exp Ophthalmol
, vol.209
, pp. 19-28
-
-
Neuhann, T.1
Krastel, H.2
Jaeger, W.3
-
63
-
-
0024358385
-
X-linked progressive cone dystrophy: Clinical characteristics of affected males and female carriers
-
Jacobson DM, Thompson HS, Bartley JA. X-linked progressive cone dystrophy: clinical characteristics of affected males and female carriers. Ophthalmology 1989;96:885-95.
-
(1989)
Ophthalmology
, vol.96
, pp. 885-895
-
-
Jacobson, D.M.1
Thompson, H.S.2
Bartley, J.A.3
-
64
-
-
0025202679
-
Rod visual fields in cone-rod degeneration. Comparison to retinitis pigmentosa
-
Birch DG, Anderson JL. Rod visual fields in cone-rod degeneration. Comparison to retinitis pigmentosa. Invest Ophthalmol Vis Sci 1990;31:2288-99.
-
(1990)
Invest Ophthalmol Vis Sci
, vol.31
, pp. 2288-2299
-
-
Birch, D.G.1
Erson, J.L.2
-
65
-
-
0019994808
-
Visual field changes in cone-rod dystrophy
-
Krauss HR, Heckenlively JR. Visual field changes in cone-rod dystrophy. Arch Ophthalmol 1982;100:1784-90.
-
(1982)
Arch Ophthalmol
, vol.100
, pp. 1784-1790
-
-
Krauss, H.R.1
Heckenlively, J.R.2
-
66
-
-
0026650762
-
Fundus albipunctatis associated with cone dystrophy
-
Miyake Y, Shiroyama N, Sugita S, Horiguchi M, Yagasaki K. Fundus albipunctatis associated with cone dystrophy. Br J Ophthalmol 1992;76:375-9.
-
(1992)
Br J Ophthalmol
, vol.76
, pp. 375-379
-
-
Miyake, Y.1
Shiroyama, N.2
Sugita, S.3
Horiguchi, M.4
Yagasaki, K.5
-
67
-
-
0022502831
-
X-linked progressive cone dystrophy with tapetal-like sheen: A newly recognized entity with mizuo-nakamura phenomenon
-
Heckenlively JR, Weleber RG. X-linked progressive cone dystrophy with tapetal-like sheen: a newly recognized entity with Mizuo-Nakamura phenomenon. Arch Ophthalmol 1986;104:1322-8.
-
(1986)
Arch Ophthalmol
, vol.104
, pp. 1322-1328
-
-
Heckenlively, J.R.1
Weleber, R.G.2
-
68
-
-
0026509057
-
Cone and cone-rod dystrophies
-
Moore AT. Cone and cone-rod dystrophies. J Med Genet 1992;29:289-90.
-
(1992)
J Med Genet
, vol.29
, pp. 289-290
-
-
Moore, A.T.1
-
69
-
-
0024454013
-
An electroretinographic and molecular genetic study of cone degeneration
-
Reichel E, Brue AM, Sandberg MA, Berson EL. An electroretinographic and molecular genetic study of cone degeneration. Am J Ophthalmol 1989;108:540-7.
-
(1989)
Am J Ophthalmol
, vol.108
, pp. 540-547
-
-
Reichel, E.1
Brue, A.M.2
Sandberg, M.A.3
Berson, E.L.4
-
71
-
-
0026576018
-
Wentln, keunen jee, oosterhuis ja. X linked progressive cone dystrophy with specific attention to carrier detection
-
van Everdingen JAM, WentLN, Keunen JEE, Oosterhuis JA. X linked progressive cone dystrophy with specific attention to carrier detection. J Med Genet 1992;29:291-4.
-
(1992)
J Med Genet
, vol.29
, pp. 291-294
-
-
Van Everdingen, J.1
-
72
-
-
0001406191
-
Further studies on acquired deficiency of color discrimination
-
Verriest G. Further studies on acquired deficiency of color discrimination. J Opt Soc Am 1963;53:185-95.
-
(1963)
J Opt Soc Am
, vol.53
, pp. 185-195
-
-
Verriest, G.1
-
73
-
-
0024386649
-
Color vision in a family with autosomal dominant cone dystrophy
-
Drum B, Verriest G, editors, Dordrecht: Kluwer
-
Marre M, Marre E, Zenker HJ, Fulle D. Color vision in a family with autosomal dominant cone dystrophy. In: Drum B, Verriest G, editors. Colour vision deficiencies IX. Dordrecht: Kluwer, 1989:181-7.
-
(1989)
Colour Vision Deficiencies IX
, pp. 181-187
-
-
Marre, M.1
Marre, E.2
Zenker, H.J.3
Fulle, D.4
-
74
-
-
2642690779
-
Familial macular dystrophy with apparently preferential short-wavelength- sensitive cone involvement. Preliminary report
-
Drum B, Verriest G, editors, Dordecht: Kluwer
-
Bresnick GH, Smith V, Pokorny J. A familial macular dystrophy with apparently preferential short-wavelength- sensitive cone involvement. Preliminary report. In: Drum B, Verriest G, editors. Colour vision deficiencies IX. Dordecht: Kluwer, 1989:195-200.
-
(1989)
Colour Vision Deficiencies IX
, pp. 195-200
-
-
Bresnick, G.H.1
Smith, V.2
Pokorny, J.A.3
-
76
-
-
0026528489
-
Late onset dominant cone dystrophy with early blue cone involvement
-
Went LN, van Schooneveld MJ, Oosterhuis JA. Late onset dominant cone dystrophy with early blue cone involvement. J Med Genet 1992;29:295-8.
-
(1992)
J Med Genet
, vol.29
, pp. 295-298
-
-
Went, L.N.1
Van Schooneveld, M.J.2
Oosterhuis, J.A.3
-
77
-
-
0024384275
-
Cone-rod dystrophy phenotypic diversity by retinal function testing
-
Yagasaki K, Jacobson SG. Cone-rod dystrophy phenotypic diversity by retinal function testing. Arch Ophthalmol 1989;107:701-8.
-
(1989)
Arch Ophthalmol
, vol.107
, pp. 701-708
-
-
Yagasaki, K.1
Jacobson, S.G.2
-
79
-
-
0023199890
-
Progressive cone dystrophy
-
Ripps H, Noble KG, Greenstein VC, Siegel IM, Carr RE. Progressive cone dystrophy. Ophthalmology 1987;94:1401-9.
-
(1987)
Ophthalmology
, vol.94
, pp. 1401-1409
-
-
Ripps, H.1
Noble, K.G.2
Greenstein, V.C.3
Siegel, I.M.4
Carr, R.E.5
-
80
-
-
0027318561
-
Clinical subtypes of cone-rod dystrophy
-
Szlyk J, Fishman GA, Alexander KR, Peachy NS, Derlacki DJ. Clinical subtypes of cone-rod dystrophy. Arch Ophthalmol 1993;111:781-8.
-
(1993)
Arch Ophthalmol
, vol.111
, pp. 781-788
-
-
Szlyk, J.1
Fishman, G.A.2
Alexander, K.R.3
Peachy, N.S.4
Derlacki, D.J.5
-
81
-
-
0030741501
-
Cone and rod function in cone degenerations
-
Sadowski B, Zrenner E. Cone and rod function in cone degenerations. Vision Res 1997;37:2303-14.
-
(1997)
Vision Res
, vol.37
, pp. 2303-2314
-
-
Sadowski, B.1
Zrenner, E.2
-
83
-
-
2642604340
-
Well preserved photoreceptor and neural function in early cone i rod dystrophies: An initial abnormality in inner retina?
-
Vaegan, Well GS. Well preserved photoreceptor and neural function in early cone I rod dystrophies: an initial abnormality in inner retina? Invest Ophthalmol Vis Sci 1991;32(Suppl):1138.
-
(1991)
Invest Ophthalmol Vis Sci
, vol.32
, pp. 1138
-
-
Vaegan, W.G.S.1
-
84
-
-
0020535720
-
Cone dystrophy, nyctalopia and supernormal rod responses: New retinal degeneration
-
Gouras P, Eggars HM, MacKay CJ. Cone dystrophy, nyctalopia and supernormal rod responses: new retinal degeneration. Arch Ophthalmol 1983;101:718-24.
-
(1983)
Arch Ophthalmol
, vol.101
, pp. 718-724
-
-
Gouras, P.1
Eggars, H.M.2
MacKay, C.J.3
-
85
-
-
0021701259
-
Supernormal scotopic erg in cone dystrophy
-
Alexander KR, Fishman GA. Supernormal scotopic ERG in cone dystrophy. Br J Ophthalmol 1984;68:69-78.
-
(1984)
Br J Ophthalmol
, vol.68
, pp. 69-78
-
-
Alexander, K.R.1
Fishman, G.A.2
-
86
-
-
0028892594
-
Autosomal dominant cone-rod dystrophy with negative electroretinogram
-
Fujii N, Shiono T, Wada Y, Nakazawa M, Tarnai M, Yamada N. Autosomal dominant cone-rod dystrophy with negative electroretinogram. Br J Ophthalmol 1995;79:916-21.
-
(1995)
Br J Ophthalmol
, vol.79
, pp. 916-921
-
-
Fujii, N.1
Shiono, T.2
Wada, Y.3
Nakazawa, M.4
Tarnai, M.5
Yamada, N.6
-
87
-
-
0027323737
-
Cone dystrophies with negative photopic electroretinogram
-
Kellner U, Foerster MH. Cone dystrophies with negative photopic electroretinogram. Br J Ophthalmol 1993;77:404-9.
-
(1993)
Br J Ophthalmol
, vol.77
, pp. 404-409
-
-
Kellner, U.1
Foerster, M.H.2
-
88
-
-
0027979863
-
X linked progressive cone dystrophy: Localisation of the gene locus to xp21-p11.1 by linkage analysis
-
Meire F, Bergan AA, De Rouck A, Leys M, Delleman JW. X linked progressive cone dystrophy: localisation of the gene locus to Xp21-p11.1 by linkage analysis. Br J Ophthalmol 1994;78:103-8.
-
(1994)
Br J Ophthalmol
, vol.78
, pp. 103-108
-
-
Meire, F.1
Bergan, A.A.2
De Rouck, A.3
Leys, M.4
Delleman, J.W.5
-
90
-
-
0028126874
-
Clinical diversity and chromosomal localization of x-linked cone dystrophy (Codl)
-
Hong HK, Ferrell RE, Gorin MB. Clinical diversity and chromosomal localization of X-linked cone dystrophy (CODl). Am J Hum Genet 1994;55:1173-81.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 1173-1181
-
-
Hong, H.K.1
Ferrell, R.E.2
Gorin, M.B.3
-
91
-
-
0030922081
-
Localization of a novel x-linked progressive cone dystrophy to xq27: Evidence for genetic heterogeneity
-
Bergen AA, Pinckers AJ. Localization of a novel X-linked progressive cone dystrophy to Xq27: evidence for genetic heterogeneity. Am J Hum Genet 1997;60:1468-73.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1468-1473
-
-
Bergen, A.A.1
Pinckers, A.J.2
-
93
-
-
0028072374
-
Refinement of the cone-rod retinal dystrophy locus on chromosome 19q [letter]
-
Gregory CY, Evans K, Whittaker JL, Fryer A, Weissenbach J, Bhattacharya SS. Refinement of the cone-rod retinal dystrophy locus on chromosome 19q [letter]. Am J Hum Genet 1994;55:1061-3.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 1061-1063
-
-
Gregory, C.Y.1
Evans, K.2
Whittaker, J.L.3
Fryer, A.4
Weissenbach, J.5
Bhattacharya, S.S.6
-
94
-
-
0028244138
-
Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion
-
Evans K, Fryer A, Ingleheam C, Duvall-Young J, Whittaker JL, Gregory CY, et al. Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. Nature Genet 1994;6:210-31.
-
(1994)
Nature Genet
, vol.6
, pp. 210-231
-
-
Evans, K.1
Fryer, A.2
Ingleheam, C.3
Duvall-Young, J.4
Whittaker, J.L.5
Gregory, C.Y.6
-
95
-
-
0028907545
-
Chromosome 19q cone-rod retinal dystrophy: Ocular phenotype
-
Evans K, Duvall-Young J, Fitzke FW, Arden GB, Bhattacharya SS, Bird AC. Chromosome 19q cone-rod retinal dystrophy: ocular phenotype. Arch Ophthalmol 1995;113:195-201.
-
(1995)
Arch Ophthalmol
, vol.113
, pp. 195-201
-
-
Evans, K.1
Duvall-Young, J.2
Fitzke, F.W.3
Arden, G.B.4
Bhattacharya, S.S.5
Bird, A.C.6
-
96
-
-
0030894570
-
Localisation of a gene for dominant cone-rod dystrophy (Cord6) to chromosome 17p
-
Kellsell RE, Evans K, Gregory CY, Moore AT, Bird AT, Hunt DM. Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. Hum Mol Genet 1997;6:597-600.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 597-600
-
-
Kellsell, R.E.1
Evans, K.2
Gregory, C.Y.3
Moore, A.T.4
Bird, A.T.5
Hunt, D.M.6
-
97
-
-
0006305358
-
Spectrum of functional phenotypes in rds mutations [abstract]
-
Jacobson SG, Kemp CM, Cideciyan A, Sun XK, Vandenburgh K, Sheffield VC, et al. Spectrum of functional phenotypes in rds mutations [abstract]. Invest Ophthalmol Vis Sci 1994;35:1044.
-
(1994)
Invest Ophthalmol Vis Sci
, vol.35
, pp. 1044
-
-
Jacobson, S.G.1
Kemp, C.M.2
Cideciyan, A.3
Sun, X.K.4
Vandenburgh, K.5
Sheffield, V.C.6
-
98
-
-
0030045140
-
Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244his) and codon 184 (tyrl84ser) of the peripherin/ rds gene
-
Nakazawa M, Kikawa E, Chida Y, Wada Y, Shiono T, Tarnai M. Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyrl84Ser) of the peripherin/ RDS gene. Arch Ophthalmol 1996;114:72-81.
-
(1996)
Arch Ophthalmol
, vol.114
, pp. 72-81
-
-
Nakazawa, M.1
Kikawa, E.2
Chida, Y.3
Wada, Y.4
Shiono, T.5
Tarnai, M.6
-
99
-
-
0029970778
-
Autosomal dominant cone-rod dystrophy associated with a val200glu mutation of the peripherin/ rds gene
-
Nakazawa M, Naoi N, Wada Y, Nakazaki S, Maruiwa F, Sawada A, et al. Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/ RDS gene. Retina 1996;16:405-10.
-
(1996)
Retina
, vol.16
, pp. 405-410
-
-
Nakazawa, M.1
Naoi, N.2
Wada, Y.3
Nakazaki, S.4
Maruiwa, F.5
Sawada, A.6
-
100
-
-
0031019503
-
Serine-27-phenylalanine mutation within the peripherin/ rds gene in a family with cone dystrophy
-
Fishman GA, Stone EM, Alexander KR, Gilbert LD, Derlacki DJ, Butler NS. Serine-27-phenylalanine mutation within the peripherin/ RDS gene in a family with cone dystrophy. Ophthalmology 1997;104:299-306.
-
(1997)
Ophthalmology
, vol.104
, pp. 299-306
-
-
Fishman, G.A.1
Stone, E.M.2
Alexander, K.R.3
Gilbert, L.D.4
Derlacki, D.J.5
Butler, N.S.6
-
101
-
-
0025802099
-
Deletion mapping of a retinal cone-rod dystrophy: Assignment to 18q211
-
Warburg M, Sjo O, Tranebjaerg L, Fledelius H. Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211. Am J Med Genet 1991;39:288-93.
-
(1991)
Am J Med Genet
, vol.39
, pp. 288-293
-
-
Warburg, M.1
Sjo, O.2
Tranebjaerg, L.3
Fledelius, H.4
-
102
-
-
0027586494
-
Cone-rod retinal dystrophy in a patient with neurofibromatosis type 1
-
Klystra JA, Aylesworth AJ. Cone-rod retinal dystrophy in a patient with neurofibromatosis type 1. Can J Ophthalmol 1993;28:79-80.
-
(1993)
Can J Ophthalmol
, vol.28
, pp. 79-80
-
-
Klystra, J.A.1
Aylesworth, A.J.2
-
103
-
-
0028794022
-
Sandgren 0, wachmeister l, holmgren g, forsman k. A gene for autosomal dominant progressive cone dystrophy (cord5) maps to chromosome 17pl2-p13
-
Balciuniene J, Johansson K, Sandgren 0, Wachmeister L, Holmgren G, Forsman K. A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17pl2-p13. Genomics 1995;30:281-6.
-
(1995)
Genomics
, vol.30
, pp. 281-286
-
-
Balciuniene, J.1
Johansson, K.2
-
104
-
-
0030026464
-
Mapping of autosomal dominant cone degeneration to chromosome 17p
-
Small KW, Syrquin M, Mullen L, Gehrs K. Mapping of autosomal dominant cone degeneration to chromosome 17p. Am J Ophthalmol 1996;121:13-8.
-
(1996)
Am J Ophthalmol
, vol.121
, pp. 13-18
-
-
Small, K.W.1
Syrquin, M.2
Mullen, L.3
Gehrs, K.4
-
105
-
-
0031974462
-
Warren mj, et al. A mutation in guanylate cyclase activator la (gucala) in autosomal dominant cone dystrophy mapping to a new locus on chromosome 6p21.1
-
Payne AM, Downes SM, Bessant DAR, Taylor R, Holder GE, Warren MJ, et al. A mutation in guanylate cyclase activator lA (GUCAlA) in autosomal dominant cone dystrophy mapping to a new locus on chromosome 6p21.1. Hum Mol Genet 1998;7:273-7.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 273-277
-
-
Payne, A.M.1
Downes, S.M.2
Bessant, D.3
Taylor, R.4
Holder, G.E.5
-
106
-
-
0030669568
-
Ploder l, et al. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (crx) essential for maintenance of the photoreceptor
-
Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, Ploder L, et al. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 1997;91:543-53.
-
(1997)
Cell
, vol.91
, pp. 543-553
-
-
Freund, C.L.1
Gregory-Evans, C.Y.2
Furukawa, T.3
Papaioannou, M.4
Looser, J.5
-
107
-
-
84984933169
-
Dominant cone-rod dystrophy caused by mutations of the guanylate cyclase
-
Kelsell RE, Yang RB, Gregory-Evans K, Payne AM, Kaplan J, Garbers DL, et al. Dominant cone-rod dystrophy caused by mutations of the guanylate cyclase (RETCG1) gene. Nature Genet 1998;in press.
-
(1998)
(RETCG1) Gene. Nature Genet
-
-
Kelsell, R.E.1
Yang, R.B.2
Gregory-Evans, K.3
Payne, A.M.4
Kaplan, J.5
Garbers, D.L.6
-
108
-
-
0028181667
-
A novel mutation (Asn244lys) in the peripherin/rds gene causing autosomal dominant retinitis pigmentosa associated with bull’s-eye maculopathy detected by nonradioisotopic sscp
-
Kikawa E, Nakazawa M, Chida Y, Shiono T, Tarnai M. A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull’s-eye maculopathy detected by nonradioisotopic SSCP. Genomics 1994;20:137-9.
-
(1994)
Genomics
, vol.20
, pp. 137-139
-
-
Kikawa, E.1
Nakazawa, M.2
Chida, Y.3
Shiono, T.4
Tarnai, M.5
-
109
-
-
16144363583
-
Retinal-specific guanylate cyclase gene mutations in leber’s congenital amaurosis
-
Perrault I, Rozet JM, Calvas P, Gerber S, Camuzat A, Dollfus H, et al. Retinal-specific guanylate cyclase gene mutations in Leber’s congenital amaurosis. Nature Genet 1996;14:461-4.
-
(1996)
Nature Genet
, vol.14
, pp. 461-464
-
-
Perrault, I.1
Rozet, J.M.2
Calvas, P.3
Gerber, S.4
Camuzat, A.5
Dollfus, H.6
-
110
-
-
0027426195
-
Linkage of bardet-biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity
-
Kwitek-Black AE, Carmi R, Duyk GM, Buetow KH, Elbedour K, Parvari R, et al. Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nature Genet 1993;5:392-6.
-
(1993)
Nature Genet
, vol.5
, pp. 392-396
-
-
Kwitek-Black, A.E.1
Carmi, R.2
Duyk, G.M.3
Buetow, K.H.4
Elbedour, K.5
Parvari, R.6
-
111
-
-
0028128537
-
Bardet-biedl syndrome is linked to dna markers on chromosome 11q and is genetically heterogeneous
-
Leppert M, Baird L, Anderson KL, Otterud B, Lupski JR, Lewis RA. Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. Nature Genet 1994;7:108-12.
-
(1994)
Nature Genet
, vol.7
, pp. 108-112
-
-
Leppert, M.1
Baird, L.2
Erson, K.L.3
Otterud, B.4
Lupski, J.R.5
Lewis, R.A.6
-
112
-
-
0028000502
-
Identification of a bardet-biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping
-
Sheffield VC, Carmi R, Kwitek-Black A, Rokhlina T, Nishimura D, Duyk GM, et al. Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Mol Genet 1994;3:1331-5.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1331-1335
-
-
Sheffield, V.C.1
Carmi, R.2
Kwitek-Black, A.3
Rokhlina, T.4
Nishimura, D.5
Duyk, G.M.6
-
113
-
-
0028841278
-
Phenotypic differences among patients with bardet-biedl syndrome linked to three different chromosome loci
-
Carmi R, Elbedour K, Stone EM, Sheffield VC. Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. Am J Med Genet 1995;59:199-203.
-
(1995)
Am J Med Genet
, vol.59
, pp. 199-203
-
-
Carmi, R.1
Elbedour, K.2
Stone, E.M.3
Sheffield, V.C.4
-
114
-
-
0024203798
-
The use of tinted contact lenses in a case of congenital rod monochromatism
-
Terry RL. The use of tinted contact lenses in a case of congenital rod monochromatism. Clin Exp Optom 1988;71:188-90.
-
(1988)
Clin Exp Optom
, vol.71
, pp. 188-190
-
-
Terry, R.L.1
-
115
-
-
0030199086
-
Clinical vision characteristics of the congenital achromatopsias. Ii. Color vision
-
Haegerstrom-Portnoy G, Schneck M, Verdon W, Hewletts S. Clinical vision characteristics of the congenital achromatopsias. II. Color vision. Optom Vis Sci 1996;73:457-65.
-
(1996)
Optom Vis Sci
, vol.73
, pp. 457-465
-
-
Haegerstrom-Portnoy, G.1
Schneck, M.2
Verdon, W.3
Hewletts, S.4
-
116
-
-
2642598147
-
Filter enhanced visual acuity in a case of central cone-rod dystrophy
-
Drum B, Verriest G, editors, Dordecht: Kluwer
-
Zisman F, Harris MG. Filter enhanced visual acuity in a case of central cone-rod dystrophy. In: Drum B, Verriest G, editors. Colour vision deficiencies IX. Dordecht: Kluwer, 1989:189-95.
-
(1989)
Colour Vision Deficiencies IX
, pp. 189-195
-
-
Zisman, F.1
Harris, M.G.2
-
117
-
-
0022696951
-
Molecular genetics of inherited variations in human colour vision
-
Nathans J, Piatanida TP, Eddy RL, Shows TB, Hogness DS. Molecular genetics of inherited variations in human colour vision. Science 1986;232:203-10.
-
(1986)
Science
, vol.232
, pp. 203-210
-
-
Nathans, J.1
Piatanida, T.P.2
Eddy, R.L.3
Shows, T.B.4
Hogness, D.S.5
-
118
-
-
84907114765
-
Retinal cone dysfunction associated with a de novo balanced translocation. 1;6(q44;q27)
-
Tranebjaberg L, Sjo O, Warburg M. Retinal cone dysfunction associated with a de novo balanced translocation. 1;6(q44;q27). Ophthalmic Paediatr Genet 1986;7:167-73.
-
(1986)
Ophthalmic Paediatr Genet
, vol.7
, pp. 167-173
-
-
Tranebjaberg, L.1
Sjo, O.2
Warburg, M.3
-
119
-
-
0026581759
-
Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin
-
Weitz CJ, Miyake Y, Shinazato K, Montag E, Zrenner E, Went LN, et al. Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. Am J Hum Genet 1992;50:498-507.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 498-507
-
-
Weitz, C.J.1
Miyake, Y.2
Shinazato, K.3
Montag, E.4
Zrenner, E.5
Went, L.N.6
-
120
-
-
0026755953
-
Human tritanopia associated with a third amino acid substitution in the blue sensitive visual pigment
-
Weitz CJ, Went LN, Nathans J. Human tritanopia associated with a third amino acid substitution in the blue sensitive visual pigment. Am J Hum Genet 1992;51:444-6.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 444-446
-
-
Weitz, C.J.1
Went, L.N.2
Nathans, J.3
-
121
-
-
0029664835
-
Natural history of alstrom syndrome in early childhood: Onset with dilated cardiomyopathy
-
Michaud JL, Heon E, Guilbert F, Weill J, Puech B, Benson L, et al. Natural history of Alstrom syndrome in early childhood: onset with dilated cardiomyopathy. J Pediatr 1996;128:225-9.
-
(1996)
J Pediatr
, vol.128
, pp. 225-229
-
-
Michaud, J.L.1
Heon, E.2
Guilbert, F.3
Weill, J.4
Puech, B.5
Benson, L.6
-
123
-
-
0023779405
-
A progressive cone-rod dystrophy and amelogenesis imperfecta: A new syndrome
-
Jalili IK, Smith NJ. A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome. J Med Genet 1988;25:738-0.
-
(1988)
J Med Genet
, vol.25
, pp. 738-740
-
-
Jalili, I.K.1
Smith, N.J.2
-
124
-
-
0024516525
-
Leber’s congenital amaurosis: A new syndrome with a cardiomyopathy
-
Russell-Eggitt IM, Taylor DS, Clayton PT, Garner A, Kriss A, Taylor JF. Leber’s congenital amaurosis: a new syndrome with a cardiomyopathy. Br J Ophthalmol 1989;73:250--4.
-
(1989)
Br J Ophthalmol
, vol.73
-
-
Russell-Eggitt, I.M.1
Taylor, D.S.2
Clayton, P.T.3
Garner, A.4
Kriss, A.5
Taylor, J.F.6
-
125
-
-
0017264699
-
A familial syndrome of progressive cone dystrophy, degenerative liver disease, endocrine dysfunction and hearing defect: Ophthalmological findings
-
Hansen E, Froyshov-Larsen I, Berg K. A familial syndrome of progressive cone dystrophy, degenerative liver disease, endocrine dysfunction and hearing defect: ophthalmological findings. Acta Ophthalmol (Copenh) 1976;54:129--44.
-
(1976)
Acta Ophthalmol (Copenh)
, vol.54
-
-
Hansen, E.1
Froyshov-Larsen, I.2
Berg, K.3
-
126
-
-
0024383996
-
Cone-rod congenital amaurosis associated with congenital hypertrichosis: An autosomal recessive condition
-
Jalili IK. Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition. J Med Genet 1989;26:504-10.
-
(1989)
J Med Genet
, vol.26
, pp. 504-510
-
-
Jalili, I.K.1
|