-
2
-
-
4243215484
-
Zur kenntnis der hereditärdegenerativen Taubstummheit, v. Über pathologische Augenbefunde bei Taubstummen und ihre differential-diagnostische Bedentung
-
Hammerschlag V. Zur Kenntnis der hereditärdegenerativen Taubstummheit, v. Über pathologische Augenbefunde bei Taubstummen und ihre differential-diagnostische Bedentung. Zsehr Ohrenh 1907; 54: 18-36.
-
(1907)
Zsehr Ohrenh
, vol.54
, pp. 18-36
-
-
Hammerschlag, V.1
-
3
-
-
0009706570
-
Zur Aetiologie der Taunstummheit in Hinsberg's
-
Urbantschitsch E. Zur Aetiologie der Taunstummheit in Hinsberg's. Verh Dtsch Otol Ges Jena 1910; 350: 153-155.
-
(1910)
Verh Dtsch Otol Ges Jena
, vol.350
, pp. 153-155
-
-
Urbantschitsch, E.1
-
4
-
-
0009730678
-
Augenanormalien bei bongenital -familiärer Taubheit und bei Labyrintherkrankung
-
Van der Hoeve J. Augenanormalien bei bongenital -familiärer Taubheit und bei Labyrintherkrankung. Klin Mbl Augenkd 1913; 51: 461-470.
-
(1913)
Klin Mbl Augenkd
, vol.51
, pp. 461-470
-
-
Van Der Hoeve, J.1
-
5
-
-
0000584842
-
Dystopia punctorum lacrimalium, blepharophimosis en patiale irisatrophie bij een doofstomme
-
Waardenburg PJ. Dystopia punctorum lacrimalium, blepharophimosis en patiale irisatrophie bij een doofstomme. Ned Tijdschr Geneeskd 1948; 92: 3463-3465.
-
(1948)
Ned Tijdschr Geneeskd
, vol.92
, pp. 3463-3465
-
-
Waardenburg, P.J.1
-
6
-
-
84956899880
-
Albinisme partiel (leucisme) accompagnê de surdi-mutitê, d'ostêomyodysplasie, de raideurs articulaires congenitales multiples et d'autres malformations congênitales
-
Klein D. Albinisme partiel (leucisme) accompagnê de surdi-mutitê, d'ostêomyodysplasie, de raideurs articulaires congenitales multiples et d'autres malformations congênitales. Arch Juliusklaus Stiftung 1947; 22: 336-342.
-
(1947)
Arch Juliusklaus Stiftung
, vol.22
, pp. 336-342
-
-
Klein, D.1
-
7
-
-
0009715116
-
Albinisme partiel (Leucisme) avec surdi-mutitê, blêpharophimosis et dysplasie myo-ostêo-articulaire
-
Klein D. Albinisme partiel (Leucisme) avec surdi-mutitê, blêpharophimosis et dysplasie myo-ostêo-articulaire. Helv Paediatr Acta 1950; 5: 38-58.
-
(1950)
Helv Paediatr Acta
, vol.5
, pp. 38-58
-
-
Klein, D.1
-
8
-
-
76949125703
-
Dystopia canthi medialis et punctorum lacrimalium lateroversa, hyperplasia supercilii medialis et readicis nasi, heterochromia iridum totalis sive partialis, albinismus circumscriptus (leucismus, poliosis), et surditas congenita (surdimutitas)
-
Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows, and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Dystopia canthi medialis et punctorum lacrimalium lateroversa, hyperplasia supercilii medialis et readicis nasi, heterochromia iridum totalis sive partialis, albinismus circumscriptus (leucismus, poliosis), et surditas congenita (surdimutitas). Am J Hum Genet 1951; 3: 195-253.
-
(1951)
Am J Hum Genet
, vol.3
, pp. 195-253
-
-
Waardenburg, P.J.1
-
9
-
-
0009682357
-
A new syndrome, of importance for oculists and ear specialists
-
Waardenburg PJ. A new syndrome, of importance for oculists and ear specialists. Ophthalmologica (Basel) 1952; 123: 184-186.
-
(1952)
Ophthalmologica (Basel)
, vol.123
, pp. 184-186
-
-
Waardenburg, P.J.1
-
10
-
-
0014056474
-
Pigmentary disorders in association with congenital deafness
-
Reed WB, Stone VM, Boder E, Ziprkowski L. Pigmentary disorders in association with congenital deafness (with discussion). Arch Dermatol 1967; 95: 176-186.
-
(1967)
Arch Dermatol
, vol.95
, pp. 176-186
-
-
Reed, W.B.1
Stone, V.M.2
Boder, E.3
Ziprkowski, L.4
-
13
-
-
0027717881
-
Spontaneous contraction of leukodermic patches in Waardenburg syndrome
-
Chang T, Hashimoto K, Bawle EV. Spontaneous contraction of leukodermic patches in Waardenburg syndrome. J Dermatol (Tokyo) 1993; 20: 707-711.
-
(1993)
J Dermatol (Tokyo)
, vol.20
, pp. 707-711
-
-
Chang, T.1
Hashimoto, K.2
Bawle, E.V.3
-
14
-
-
0030913922
-
Un cas de syndrome de Waardenburg-Klein observé au C.N.H.U. de Cotonou
-
Bassabi SK, Medji APL, Doutetien C, et al. Un cas de syndrome de Waardenburg-Klein observé au C.N.H.U. de Cotonou. J Franc Ophthalmol 1997; 20: 387-390.
-
(1997)
J Franc Ophthalmol
, vol.20
, pp. 387-390
-
-
Bassabi, S.K.1
Medji, A.P.L.2
Doutetien, C.3
-
15
-
-
0033088171
-
Waardenburg syndrome with facial palsy and lingua plicata: Is that a new type of disease?
-
Dourmishev AL, Dourmishev LA, Schwartz RA, Janniger CK. Waardenburg syndrome with facial palsy and lingua plicata: is that a new type of disease? Cutis 1999; 63: 139-141.
-
(1999)
Cutis
, vol.63
, pp. 139-141
-
-
Dourmishev, A.L.1
Dourmishev, L.A.2
Schwartz, R.A.3
Janniger, C.K.4
-
17
-
-
0031436220
-
Waardenburg syndrome type II in a Taiwanese woman with a family history of pseudoxanthoma elasticum
-
Marcini AJ. Waardenburg syndrome type II in a Taiwanese woman with a family history of pseudoxanthoma elasticum. Int J Dermatol 1997; 36: 916-937.
-
(1997)
Int J Dermatol
, vol.36
, pp. 916-937
-
-
Marcini, A.J.1
-
18
-
-
0030979154
-
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)
-
Morell R, Spritz RA, Ho L, et al. Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum Molec Genet 1997; 6: 659-664.
-
(1997)
Hum Molec Genet
, vol.6
, pp. 659-664
-
-
Morell, R.1
Spritz, R.A.2
Ho, L.3
-
19
-
-
0031872623
-
Clinical and morphological features of Waardenburg syndrome type II
-
Mullaney PB, Parsons MA, Weatherhead RG, Karcioglu ZA. Clinical and morphological features of Waardenburg syndrome type II. Eye 1998; 12 (3A): 353-357.
-
(1998)
Eye
, vol.12
, Issue.3 A
, pp. 353-357
-
-
Mullaney, P.B.1
Parsons, M.A.2
Weatherhead, R.G.3
Karcioglu, Z.A.4
-
20
-
-
0031923931
-
Septo-optic dysplasia and WSI in the proband of a WSI family segregating for a novel mutation in PAX3 exon 7
-
Carey ML, Friedman TB, Asher JH, Innis JW. Septo-optic dysplasia and WSI in the proband of a WSI family segregating for a novel mutation in PAX3 exon 7. J Med Genet 1998; 35: 248-250.
-
(1998)
J Med Genet
, vol.35
, pp. 248-250
-
-
Carey, M.L.1
Friedman, T.B.2
Asher, J.H.3
Innis, J.W.4
-
21
-
-
0031613097
-
Waardenburg syndrome - Variable phenotypic expression in monozygotic twin
-
Suyugul Z, Tuysuz B, Tukenmez F, et al. Waardenburg syndrome - variable phenotypic expression in monozygotic twin. Clin Dysmorphol 1998; 7: 77-78.
-
(1998)
Clin Dysmorphol
, vol.7
, pp. 77-78
-
-
Suyugul, Z.1
Tuysuz, B.2
Tukenmez, F.3
-
22
-
-
0031776503
-
A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg syndrome type 2
-
Wang C, Kim E, Attaie A, et al. A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg syndrome type 2. Molec Cellul Probes 1998; 12: 55-57.
-
(1998)
Molec Cellul Probes
, vol.12
, pp. 55-57
-
-
Wang, C.1
Kim, E.2
Attaie, A.3
-
23
-
-
0031170823
-
A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WSI)
-
Attaie A, Kim E, Wilcox ER, Lalwani AK. A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WSI). Molec Cellul Probes 1997; 11: 233-236.
-
(1997)
Molec Cellul Probes
, vol.11
, pp. 233-236
-
-
Attaie, A.1
Kim, E.2
Wilcox, E.R.3
Lalwani, A.K.4
-
24
-
-
0014002306
-
Waardenburg's syndrome with fundus and other anomalies
-
Goldberg MF. Waardenburg's syndrome with fundus and other anomalies. Arch Ophthalmol 1966; 76: 797-819.
-
(1966)
Arch Ophthalmol
, vol.76
, pp. 797-819
-
-
Goldberg, M.F.1
-
25
-
-
0022588581
-
Waardenburg's syndrome with Hirschsprung's disease: A neural crest defect
-
Mallory SB, Wiener E, Nordlund JJ. Waardenburg's syndrome with Hirschsprung's disease: a neural crest defect. Pediatr Dermatol 1986; 3: 119-124.
-
(1986)
Pediatr Dermatol
, vol.3
, pp. 119-124
-
-
Mallory, S.B.1
Wiener, E.2
Nordlund, J.J.3
-
26
-
-
0017858234
-
Waardenburg's syndrome in Kenyan Africans
-
Hageman MJ. Waardenburg's syndrome in Kenyan Africans. Trop Geog Med 1978; 30: 45-55.
-
(1978)
Trop Geog Med
, vol.30
, pp. 45-55
-
-
Hageman, M.J.1
-
29
-
-
0017717038
-
Heterogeneity in Waardenburg syndrome
-
Hageman MJ, Delleman JW. Heterogeneity in Waardenburg syndrome. Am J Hum Genet 1977; 29: 468-485.
-
(1977)
Am J Hum Genet
, vol.29
, pp. 468-485
-
-
Hageman, M.J.1
Delleman, J.W.2
-
31
-
-
0029028059
-
Mutations in PAX3 that cause Waardenburg syndrome type I. Ten new mutations and review of the literature
-
Baldwin CT, Hoth CF, Macina RA, Milunsky A. Mutations in PAX3 that cause Waardenburg syndrome type I. Ten new mutations and review of the literature. Am J Med Genet 1995; 58: 115-122.
-
(1995)
Am J Med Genet
, vol.58
, pp. 115-122
-
-
Baldwin, C.T.1
Hoth, C.F.2
Macina, R.A.3
Milunsky, A.4
-
32
-
-
0009715239
-
An english family with Waardenburg's syndrome
-
Partington MW. An English family with Waardenburg's syndrome. Arch Dis Child 1959; 34: 154-157.
-
(1959)
Arch Dis Child
, vol.34
, pp. 154-157
-
-
Partington, M.W.1
-
33
-
-
0018191979
-
Apparent non-penetrance for dystopia in Waardenburg syndrome type I, with some hints in the diagnosis of dystopia canthorum
-
Arias S, Mota A. Apparent non-penetrance for dystopia in Waardenburg syndrome type I, with some hints in the diagnosis of dystopia canthorum. J Genet Hum 1978; 26: 103-131.
-
(1978)
J Genet Hum
, vol.26
, pp. 103-131
-
-
Arias, S.1
Mota, A.2
-
34
-
-
0018131067
-
Ophthalmologic findings in 34 patients with Waardenburg syndrome
-
Delleman JW, Hageman MJ. Ophthalmologic findings in 34 patients with Waardenburg syndrome. J Pediatr Ophthalmol Strabism 1978; 15: 341-345.
-
(1978)
J Pediatr Ophthalmol Strabism
, vol.15
, pp. 341-345
-
-
Delleman, J.W.1
Hageman, M.J.2
-
36
-
-
70449325548
-
Deafness as part of an hereditary syndrome
-
Fisch L. Deafness as part of an hereditary syndrome. J Laryngol Otol 1959; 73: 353-362.
-
(1959)
J Laryngol Otol
, vol.73
, pp. 353-362
-
-
Fisch, L.1
-
37
-
-
70449325548
-
Deafness as part of an hereditary syndrome
-
Friedman I, Fisch L. Deafness as part of an hereditary syndrome. J Laryngol Otol 1959; 73: 363-382.
-
(1959)
J Laryngol Otol
, vol.73
, pp. 363-382
-
-
Friedman, I.1
Fisch, L.2
-
38
-
-
0009745245
-
Tomography of the inner ear in a case of Waardenburg syndrome
-
Jansen J. Tomography of the inner ear in a case of Waardenburg syndrome. Am J Roentg 1967; 101: 827-833.
-
(1967)
Am J Roentg
, vol.101
, pp. 827-833
-
-
Jansen, J.1
-
40
-
-
0017366806
-
Ultrastructural study of leucodermic skin in Waardenburg-Klein syndrome
-
Perrot H, Ortonne JP, Thivolet J. Ultrastructural study of leucodermic skin in Waardenburg-Klein syndrome. Acta Derm Venereol (Stockh) 1977; 57: 195-200.
-
(1977)
Acta Derm Venereol (Stockh)
, vol.57
, pp. 195-200
-
-
Perrot, H.1
Ortonne, J.P.2
Thivolet, J.3
-
41
-
-
0009679585
-
Zur Ultrastruktur der Haut beim Klein-Waardenburg syndrom
-
Antoan-Lemprecht I, Klein D, Goos M. Zur Ultrastruktur der Haut beim Klein-Waardenburg Syndrom. Hautarzt 1972; 23: 461-473.
-
(1972)
Hautarzt
, vol.23
, pp. 461-473
-
-
Antoan-Lemprecht, I.1
Klein, D.2
Goos, M.3
-
43
-
-
0014164053
-
Waardenburg's syndrome during the first year of life
-
Feingold M, Robinson MJ, Gellis SS, et al. Waardenburg's syndrome during the first year of life. J Pediatr 1967; 71: 874-876.
-
(1967)
J Pediatr
, vol.71
, pp. 874-876
-
-
Feingold, M.1
Robinson, M.J.2
Gellis, S.S.3
-
44
-
-
0015105456
-
A case of Waardenburg's syndrome
-
Pryor HB. A case of Waardenburg's syndrome. Am J Dis Child 1971; 122: 177-178.
-
(1971)
Am J Dis Child
, vol.122
, pp. 177-178
-
-
Pryor, H.B.1
-
46
-
-
0009682359
-
La meche frontale blanche et la myopie comme facteurs 'indicateurs' du syndrome de Waardenburg-Klein
-
Couteau-Lagarde JM, Collier M. La meche frontale blanche et la myopie comme facteurs 'indicateurs' du syndrome de Waardenburg-Klein. J Genet Hum 1963; 12: 146-153.
-
(1963)
J Genet Hum
, vol.12
, pp. 146-153
-
-
Couteau-Lagarde, J.M.1
Collier, M.2
-
47
-
-
0009705637
-
Waardenburg's syndrome: A variation of the first arch syndrome
-
Campbell B, Campbell NR, Swift S. Waardenburg's syndrome: a variation of the first arch syndrome. Arch Dermatol 1962; 86: 718-724.
-
(1962)
Arch Dermatol
, vol.86
, pp. 718-724
-
-
Campbell, B.1
Campbell, N.R.2
Swift, S.3
-
48
-
-
8244263673
-
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4
-
Coyle B, Coffey R, Armour JA, et al. Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nature Genet 1996; 12: 421-423.
-
(1996)
Nature Genet
, vol.12
, pp. 421-423
-
-
Coyle, B.1
Coffey, R.2
Armour, J.A.3
-
49
-
-
0029890469
-
Two different PAX3 gene mutations causing Waardenburg syndrome type I
-
Wildhardt G, Winterpacht A, Hilbert K, et al. Two different PAX3 gene mutations causing Waardenburg syndrome type I. Molec Cellul Probes 1996; 10: 229-231.
-
(1996)
Molec Cellul Probes
, vol.10
, pp. 229-231
-
-
Wildhardt, G.1
Winterpacht, A.2
Hilbert, K.3
-
50
-
-
0030030303
-
Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome
-
Asher JH Jr, Sommer A, Morell R, Friedman TB. Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome. Hum Mutat 1996; 7: 30-35.
-
(1996)
Hum Mutat
, vol.7
, pp. 30-35
-
-
Asher J.H., Jr.1
Sommer, A.2
Morell, R.3
Friedman, T.B.4
-
51
-
-
13344281005
-
Phenotypic variation in Waardenburg syndrome: Mutational heterogeneity, modifier genes or polygenic background?
-
Pandya A, Xia XJ, Landa BL, et al. Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background? Hum Mol Genet 1996; 5: 497-502.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 497-502
-
-
Pandya, A.1
Xia, X.J.2
Landa, B.L.3
-
52
-
-
0027272710
-
Two sibs with unbalanced translocations in the Waardenburg gene region
-
al Gazali LI, Quaife R. Two sibs with unbalanced translocations in the Waardenburg gene region. J Med Genet 1993; 30: 607-609.
-
(1993)
J Med Genet
, vol.30
, pp. 607-609
-
-
Al Gazali, L.I.1
Quaife, R.2
-
53
-
-
0030585759
-
Effects of PAX3 modifier genes on craniofacial morphology, pigmentation and viability: A murine model of Waardenburg syndrome variation
-
Asher JH Jr, Harrison RW, Morell R, et al. Effects of PAX3 modifier genes on craniofacial morphology, pigmentation and viability: a murine model of Waardenburg syndrome variation. Genomics 1996; 34: 285-298.
-
(1996)
Genomics
, vol.34
, pp. 285-298
-
-
Asher J.H., Jr.1
Harrison, R.W.2
Morell, R.3
-
54
-
-
0028908831
-
Waardenburg syndrome type II. Phenotypic findings and diagnostic criteria
-
Liu XZ, Newton VE, Read AP. Waardenburg syndrome type II. Phenotypic findings and diagnostic criteria. Am J Med Genet 1995; 55: 95-100.
-
(1995)
Am J Med Genet
, vol.55
, pp. 95-100
-
-
Liu, X.Z.1
Newton, V.E.2
Read, A.P.3
-
55
-
-
0027943189
-
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene
-
Tassabehji M, Newton VE, Read AP. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nature Genet 1994; 8: 251-255.
-
(1994)
Nature Genet
, vol.8
, pp. 251-255
-
-
Tassabehji, M.1
Newton, V.E.2
Read, A.P.3
-
56
-
-
0027966022
-
A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1
-
Hughes AE, Newton VE, Liu XZ, Read AP. A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1. Nature Genet 1994; 7: 509-512.
-
(1994)
Nature Genet
, vol.7
, pp. 509-512
-
-
Hughes, A.E.1
Newton, V.E.2
Liu, X.Z.3
Read, A.P.4
-
57
-
-
0031062502
-
Evidence to suggest that expression of MITF induces melanocyte differentiation and haploinsufficiency of MITF causes Waardenburg syndrome type 2A
-
Tachibana M. Evidence to suggest that expression of MITF induces melanocyte differentiation and haploinsufficiency of MITF causes Waardenburg syndrome type 2A. Pigment Cell Res 1997; 10: 25-33.
-
(1997)
Pigment Cell Res
, vol.10
, pp. 25-33
-
-
Tachibana, M.1
-
58
-
-
0030012628
-
Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A
-
Nobukuni Y, Watanabe A, Takeda K, et al. Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A. Am J Hum Genet 1996; 59: 76-83.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 76-83
-
-
Nobukuni, Y.1
Watanabe, A.2
Takeda, K.3
-
59
-
-
0030178774
-
A novel mutation in the MITF gene causes Waardenburg syndrome type 2
-
Lautenschlager NT, Milunsky A, DeStefano A, et al. A novel mutation in the MITF gene causes Waardenburg syndrome type 2. Genet Anal 1996; 13: 43-44.
-
(1996)
Genet Anal
, vol.13
, pp. 43-44
-
-
Lautenschlager, N.T.1
Milunsky, A.2
DeStefano, A.3
-
60
-
-
0013772219
-
Nouvelle observation de la forme grave du syndrome Klein-Waardenburg
-
Wibbrandt HR, Ammann F. Nouvelle observation de la forme grave du syndrome Klein-Waardenburg. Arch Klaus Sift Vererbungs Forsch 1964; 39: 80-82.
-
(1964)
Arch Klaus Sift Vererbungs Forsch
, vol.39
, pp. 80-82
-
-
Wibbrandt, H.R.1
Ammann, F.2
-
61
-
-
0027439075
-
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)
-
Hoth CF, Milunsky A, Lipsky N, et al. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Hum Genet 1993; 52: 455-462.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 455-462
-
-
Hoth, C.F.1
Milunsky, A.2
Lipsky, N.3
-
63
-
-
0027170114
-
Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35
-
Pasteris NG, Trask BJ, Sheldon S, Gorski JL. Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35. Hum Mol Genet 1993; 2: 953-959.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 953-959
-
-
Pasteris, N.G.1
Trask, B.J.2
Sheldon, S.3
Gorski, J.L.4
-
65
-
-
9044220230
-
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
-
Amiel J, Attie T, Jan D, et al. Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum Mol Genet 1996; 5: 355-357.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 355-357
-
-
Amiel, J.1
Attie, T.2
Jan, D.3
-
66
-
-
0029962460
-
Waardenburg-Hirschsprung disease in two sisters: A possible clue to the genetics of this association?
-
Bonnet JP, Till M, Edery P, et al. Waardenburg-Hirschsprung disease in two sisters: a possible clue to the genetics of this association? Eur J Pediatr Surg 1996; 6: 245-248.
-
(1996)
Eur J Pediatr Surg
, vol.6
, pp. 245-248
-
-
Bonnet, J.P.1
Till, M.2
Edery, P.3
-
67
-
-
0009675716
-
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
-
Hofstra RM, Osinga J, Tan-Sindhunata G, et al. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nature Genet 1996; 12: 445-447.
-
(1996)
Nature Genet
, vol.12
, pp. 445-447
-
-
Hofstra, R.M.1
Osinga, J.2
Tan-Sindhunata, G.3
-
68
-
-
0006457459
-
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
-
Edery P, Attie T, Amiel J, et al. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nature Genet 1996; 12: 442-444.
-
(1996)
Nature Genet
, vol.12
, pp. 442-444
-
-
Edery, P.1
Attie, T.2
Amiel, J.3
-
69
-
-
0029131330
-
Chromosome 13q deletion with Waardenburg syndrome: Further evidence for a gene involved in neural crest function on 13q
-
Van Camp G, Thienen MN, Handig I, et al. Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q. J Med Genet 1995; 32: 531-536.
-
(1995)
J Med Genet
, vol.32
, pp. 531-536
-
-
Van Camp, G.1
Thienen, M.N.2
Handig, I.3
-
71
-
-
0002514166
-
Three generations of deaf white cats
-
Wolff D. Three generations of deaf white cats. J Hered 1942; 33: 39-43.
-
(1942)
J Hered
, vol.33
, pp. 39-43
-
-
Wolff, D.1
-
73
-
-
0009683194
-
Inherited defects in dogs
-
Young GB. Inherited defects in dogs. Vet Rec 1955; 67: 15-19.
-
(1955)
Vet Rec
, vol.67
, pp. 15-19
-
-
Young, G.B.1
-
75
-
-
0009679586
-
A piebald family
-
Cockayne EA. A piebald family. Biometrika 1914; 10: 197-100.
-
(1914)
Biometrika
, vol.10
, pp. 197-1100
-
-
Cockayne, E.A.1
-
76
-
-
0009680127
-
Long heredity of partial albinism
-
Mazzini G. Long heredity of partial albinism (Abstract). Gass Osp Milano 1923; 45: 403.
-
(1923)
Gass Osp Milano
, vol.45
, pp. 403
-
-
Mazzini, G.1
-
77
-
-
0009682463
-
Ueber Vererbung und Lokalisation der Scheckenbildung sowie ihre Bedeutung für die Naevusätilogie
-
Mierowsky, Spickernagel. Ueber Vererbung und Lokalisation der Scheckenbildung sowie ihre Bedeutung für die Naevusätilogie. Arch Dermatol Syph (Berlin) 1926; 150: 384-392.
-
(1926)
Arch Dermatol Syph (Berlin)
, vol.150
, pp. 384-392
-
-
Mierowsky, S.1
-
78
-
-
0009705638
-
A human mosaic involving eye and hair color differences
-
Ahuja YR. A human mosaic involving eye and hair color differences. Acta Genet Med Gemeliol (Roma) 1960; 9: 427-431.
-
(1960)
Acta Genet Med Gemeliol (Roma)
, vol.9
, pp. 427-431
-
-
Ahuja, Y.R.1
-
79
-
-
0001785840
-
Albinism among Indians in Arizona and New Mexico
-
Woolf CM. Albinism among Indians in Arizona and New Mexico. Am J Hum Genet 1965; 17: 23-35.
-
(1965)
Am J Hum Genet
, vol.17
, pp. 23-35
-
-
Woolf, C.M.1
-
80
-
-
0014014253
-
Partial albinism
-
Comings DE, Odland GF. Partial albinism. JAMA 1966; 195: 519-523.
-
(1966)
JAMA
, vol.195
, pp. 519-523
-
-
Comings, D.E.1
Odland, G.F.2
-
81
-
-
0015467471
-
Poikilodermia alba (albinismus circumscriptus)
-
Van Velde JK. Poikilodermia alba (albinismus circumscriptus). Dermatologica (Basel) 1972; 145: 9-15.
-
(1972)
Dermatologica (Basel)
, vol.145
, pp. 9-15
-
-
Van Velde, J.K.1
-
84
-
-
0015014451
-
Autosomal recessive deafness associated with short stature, vitiligo, muscle wasting and achalasia
-
Rozycki DL, Reuben RJ, Rapin I, Spiro AJ. Autosomal recessive deafness associated with short stature, vitiligo, muscle wasting and achalasia. Arch Otolaryngol 1971; 93: 194-197.
-
(1971)
Arch Otolaryngol
, vol.93
, pp. 194-197
-
-
Rozycki, D.L.1
Reuben, R.J.2
Rapin, I.3
Spiro, A.J.4
-
86
-
-
0009725616
-
Uber eine familie hereditar degenerativer Taunbstummer mit mongoloidem Einschlag und teilweisem Leukismus der Haut und Haare
-
Mende I. Uber eine Familie hereditar degenerativer Taunbstummer mit mongoloidem Einschlag und teilweisem Leukismus der Haut und Haare. Arch Kinderhelikd 1926; 79: 214-222.
-
(1926)
Arch Kinderhelikd
, vol.79
, pp. 214-222
-
-
Mende, I.1
-
87
-
-
0009749850
-
Geval van pigmentanomaliie en doofheid
-
Van Gilse PH. Geval van pigmentanomaliie en doofheid. Ned Tijdschr Geneeskd 1926; 70: 479-480.
-
(1926)
Ned Tijdschr Geneeskd
, vol.70
, pp. 479-480
-
-
Van Gilse, P.H.1
-
88
-
-
0015351196
-
Hereditary childhood hearing loss and integumentary system disease
-
Konigsmark BW. Hereditary childhood hearing loss and integumentary system disease. J Pediatr 1971; 80: 909-919.
-
(1971)
J Pediatr
, vol.80
, pp. 909-919
-
-
Konigsmark, B.W.1
-
91
-
-
0023893167
-
Piebaldism, Waardenburg's syndrome, and related disorders. 'Neural crest depigmentation syndrome'
-
Ortonne JP. Piebaldism, Waardenburg's syndrome, and related disorders. 'Neural crest depigmentation syndrome'. Dermatol Clin 1988; 6: 210-212.
-
(1988)
Dermatol Clin
, vol.6
, pp. 210-212
-
-
Ortonne, J.P.1
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