-
1
-
-
76949125703
-
A new syndrome combining developmental anomalies of the eyelids, eyebrowns, and nose root with pigmentary defects of the iris and head hair and with congenital deafness
-
Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrowns, and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet 1951;3:195-253.
-
(1951)
Am J Hum Genet
, vol.3
, pp. 195-253
-
-
Waardenburg, P.J.1
-
3
-
-
0344429349
-
Abnorme länge der tränen röhrchen mit ankyloblepharon
-
Van der Hoeve J. Abnorme Länge der Tränen röhrchen mit ankyloblepharon Klin Mbl Augenheilk 1919;56:232-8.
-
(1919)
Klin Mbl Augenheilk
, vol.56
, pp. 232-238
-
-
Van Der Hoeve, J.1
-
4
-
-
0000584842
-
Dystopia punctorum lachrimarum, blepharophimosis en partiele irisatrophie bij een doofstomme
-
Waardenburg PJ. Dystopia punctorum lachrimarum, blepharophimosis en partiele irisatrophie bij een doofstomme. Ned Tschr Geneeskd 1948;92:3463-5.
-
(1948)
Ned Tschr Geneeskd
, vol.92
, pp. 3463-3465
-
-
Waardenburg, P.J.1
-
5
-
-
0004078656
-
-
Williams and Wilkins, Baltimore
-
e éd, Williams and Wilkins, Baltimore, 1947:492.
-
(1947)
e Éd
, pp. 492
-
-
Walsh, F.B.1
Hoyt, W.E.2
-
6
-
-
84956899880
-
Albinisme partiel (leucisme) accompagné de surdité-mutité, ostéomyodysplasie, de raideurs articulaires multiples et d'autres malformations congénitales
-
Klein D. Albinisme partiel (leucisme) accompagné de surdité-mutité, ostéomyodysplasie, de raideurs articulaires multiples et d'autres malformations congénitales. Arch Klaus Stift Vererb Forsch 1947;22:336-42.
-
(1947)
Arch Klaus Stift Vererb Forsch
, vol.22
, pp. 336-342
-
-
Klein, D.1
-
7
-
-
0015020545
-
Genetic heterogeneity in the Waardenburg syndrome
-
Arias S. Genetic heterogeneity in the Waardenburg syndrome. Birth Defects 1971;7:87-101.
-
(1971)
Birth Defects
, vol.7
, pp. 87-101
-
-
Arias, S.1
-
8
-
-
0020694438
-
Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III)
-
Klein D. Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III). Am J Med Genet 1983;14:231-9.
-
(1983)
Am J Med Genet
, vol.14
, pp. 231-239
-
-
Klein, D.1
-
9
-
-
0019406679
-
White forelock, pigmentary disorder of the irides and long segment Hirschsprung disease : Possible variant of Waardenburg syndrome
-
Shah KN, Dalal SJ, Joshi NC, Ambani LM. White forelock, pigmentary disorder of the irides and long segment Hirschsprung disease : possible variant of Waardenburg syndrome. J Pediatr 1981; 99:432-5.
-
(1981)
J Pediatr
, vol.99
, pp. 432-435
-
-
Shah, K.N.1
Dalal, S.J.2
Joshi, N.C.3
Ambani, L.M.4
-
10
-
-
0018191979
-
Apparent nonpenetrance for dystopia in Waardenburg syndrome type 1 with some hints on the diagnosis of dystopia canthorum
-
Arias S, Mota M. Apparent nonpenetrance for dystopia in Waardenburg syndrome type 1 with some hints on the diagnosis of dystopia canthorum. J Genet Hum 1978;26:101-31.
-
(1978)
J Genet Hum
, vol.26
, pp. 101-131
-
-
Arias, S.1
Mota, M.2
-
11
-
-
0345724017
-
Waardenburg's syndrome in father and daughter
-
Thorkilgaard O. Waardenburg's syndrome in father and daughter. Acta Ophthalmol (Kbh) 1962;40:590-9.
-
(1962)
Acta Ophthalmol (Kbh)
, vol.40
, pp. 590-599
-
-
Thorkilgaard, O.1
-
12
-
-
0001252028
-
Waardenburg's syndrome and heterochromia iridium in a deaf scholl population
-
Partington MW. Waardenburg's syndrome and heterochromia iridium in a deaf scholl population. Can Med Assoc J 1964;90:1008-17.
-
(1964)
Can Med Assoc J
, vol.90
, pp. 1008-1017
-
-
Partington, M.W.1
-
14
-
-
0020131388
-
Waardenburg's memorial lecture : Waardenburg's syndrome
-
François J. Waardenburg's memorial lecture : Waardenburg's syndrome. Int Ophthalmol 1982;5:3-13.
-
(1982)
Int Ophthalmol
, vol.5
, pp. 3-13
-
-
François, J.1
-
15
-
-
0032171031
-
Characterization of melanins in human irides and cultured uveal melanocytes from eyes of different colors
-
Prota G, Hu DN, Vincensi MR, Mc Cornick SA, Napolitano A. Characterization of melanins in human irides and cultured uveal melanocytes from eyes of different colors. Exp Eye Res 1998;67:293-9.
-
(1998)
Exp Eye Res
, vol.67
, pp. 293-299
-
-
Prota, G.1
Hu, D.N.2
Vincensi, M.R.3
Mc Cornick, S.A.4
Napolitano, A.5
-
16
-
-
0025273841
-
Syndrome de Waardenburg. A propos d'une observation familiale
-
Khaldi F, Serbegi M, Mokadem H, Lazzem B, Bennaceur B. Syndrome de Waardenburg. A propos d'une observation familiale. Ann Pediatr 1990;37:55-8.
-
(1990)
Ann Pediatr
, vol.37
, pp. 55-58
-
-
Khaldi, F.1
Serbegi, M.2
Mokadem, H.3
Lazzem, B.4
Bennaceur, B.5
-
17
-
-
0018131067
-
Ophthalrnological findings in 34 patients with Waardenburg syndrome
-
Delleman JW, Hageman MJ. Ophthalrnological findings in 34 patients with Waardenburg syndrome. J Paediatr Ophthalmol Strab 1978;15:341-5.
-
(1978)
J Paediatr Ophthalmol Strab
, vol.15
, pp. 341-345
-
-
Delleman, J.W.1
Hageman, M.J.2
-
18
-
-
0027717881
-
Spontaneous contraction of leukodermic patches in Waardenburg syndrome
-
Chang T, Hashimoto K, Bawle EV. Spontaneous contraction of leukodermic patches in Waardenburg syndrome. J Derrnatol 1993;20:707-11.
-
(1993)
J Derrnatol
, vol.20
, pp. 707-711
-
-
Chang, T.1
Hashimoto, K.2
Bawle, E.V.3
-
19
-
-
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
-
20
-
-
0029037045
-
Analysis of variability of clinical manifestations in Waardenburg syndrome
-
Reynolds JE, Meyer JM, Landa B, Steven CA, Arnos KS, Israel J et coll. Analysis of variability of clinical manifestations in Waardenburg Syndrome. Am J Med genet 1995;57:540-7.
-
(1995)
Am J Med Genet
, vol.57
, pp. 540-547
-
-
Reynolds, J.E.1
Meyer, J.M.2
Landa, B.3
Steven, C.A.4
Arnos, K.S.5
Israel, J.6
-
21
-
-
0025099433
-
Hearing loss of Waardenburg syndrome : Implications for genetic counselling
-
Newton VE. Hearing loss of Waardenburg syndrome : implications for genetic counselling. J Laryngol Otol 1990;104:97-103.
-
(1990)
J Laryngol Otol
, vol.104
, pp. 97-103
-
-
Newton, V.E.1
-
22
-
-
0344429344
-
-
Paris
-
Urvoy M, Toulemont PJ, Le Marec B, Chevrant-Breton J. Syndromes oculoauditifs. Encylopédie Médico-chirurgicale, Paris, 21-470 A50, 1994.
-
(1994)
Syndromes Oculoauditifs. Encylopédie Médico-chirurgicale
, pp. 21-470
-
-
Urvoy, M.1
Toulemont, P.J.2
Le Marec, B.3
Chevrant-Breton, J.4
-
23
-
-
70449325548
-
Daefness as a part of an hereditary syndrome
-
Fisch L. Daefness as a part of an hereditary syndrome. J Laryngol Otol 1959; 73:355-82.
-
(1959)
J Laryngol Otol
, vol.73
, pp. 355-382
-
-
Fisch, L.1
-
24
-
-
0013841287
-
The Waardenburg's syndrome : Description and report of search
-
McDonald RMA, Harrison VC. The Waardenburg's syndrome : description and report of search. Clin Pediatr 1965; 4:739-74.
-
(1965)
Clin Pediatr
, vol.4
, pp. 739-774
-
-
McDonald, R.M.A.1
Harrison, V.C.2
-
25
-
-
0026692676
-
Waardenburg's syndrome type 1 is caused by defects at multiple loci, one of which is near ALPP on chromosome 2 : First report of the WS consortium
-
Farrer LA, Grundfast KM, Amos J, Arnos KS, Asher JH, Beighton P et coll. Waardenburg's syndrome type 1 is caused by defects at multiple loci, one of which is near ALPP on chromosome 2 : first report of the WS Consortium. Am J Hum Genet 1992;50:902-13.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 902-913
-
-
Farrer, L.A.1
Grundfast, K.M.2
Amos, J.3
Arnos, K.S.4
Asher, J.H.5
Beighton, P.6
-
26
-
-
0011740759
-
Partial albinism and deaf-mutism due to recessive sex-linked gene
-
Ziprkowski L, Krakowski A, Adam A. Partial albinism and deaf-mutism due to recessive sex-linked gene. Arch Dermatol 1962;86:530-9.
-
(1962)
Arch Dermatol
, vol.86
, pp. 530-539
-
-
Ziprkowski, L.1
Krakowski, A.2
Adam, A.3
-
28
-
-
0028972923
-
The mutational sprectum in Waardenburg syndrome
-
Tassabehji M, Newton VE, Liu XZ, Brady A, Donnai D, Krajewska-Walasek M et coll. The mutational sprectum in Waardenburg syndrome. Hum Mol Genet 1995;4:2131-7.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2131-2137
-
-
Tassabehji, M.1
Newton, V.E.2
Liu, X.Z.3
Brady, A.4
Donnai, D.5
Krajewska-Walasek, M.6
-
29
-
-
0025925068
-
Sploch, a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax3
-
Epstein DJ, Vekemans M, Gros P. Sploch, a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax3. Cell 1991;67:767-74.
-
(1991)
Cell
, vol.67
, pp. 767-774
-
-
Epstein, D.J.1
Vekemans, M.2
Gros, P.3
-
30
-
-
0029741915
-
Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocytes characteristics
-
Tachibana M, Takeda K, Nobukuni Y, Urabe K, Long JE, Meyers KA et coll. Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocytes characteristics. Nature Genet 1996; 14:50-4.
-
(1996)
Nature Genet
, vol.14
, pp. 50-54
-
-
Tachibana, M.1
Takeda, K.2
Nobukuni, Y.3
Urabe, K.4
Long, J.E.5
Meyers, K.A.6
-
31
-
-
0027943189
-
Waardenburg type 2 caused by mutations in the human microphtalmia (MITF) gene
-
Tssabehji M, Newton VE, Read AP. Waardenburg type 2 caused by mutations in the human microphtalmia (MITF) gene. Nature Genet 1994;8:251-5.
-
(1994)
Nature Genet
, vol.8
, pp. 251-255
-
-
Tssabehji, M.1
Newton, V.E.2
Read, A.P.3
-
32
-
-
0030012628
-
Analysis of loss-of-function mutations of the MITF gene suggest that haploinsufficinency is a cause of Waardenburg syndrome type 2A
-
Nobukuni Y, Watanabe A, Takeda K, Skarka H, Tachibana M. Analysis of loss-of-function mutations of the MITF gene suggest that haploinsufficinency 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
Skarka, H.4
Tachibana, M.5
-
33
-
-
0028618372
-
A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
-
Puffenberger EG, Hosoda K, Nakao K, DeWit D, Yanagisawa M, Chakravart A. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 1994; 79:1257-66.
-
(1994)
Cell
, vol.79
, pp. 1257-1266
-
-
Puffenberger, E.G.1
Hosoda, K.2
Nakao, K.3
DeWit, D.4
Yanagisawa, M.5
Chakravart, A.6
-
34
-
-
0030029691
-
Endothelin receptor-mediated signaling in Hirschsprung disease
-
Chakravarti A. Endothelin receptor-mediated signaling in Hirschsprung disease. Hum Mol Genet 1996;5:303-8.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 303-308
-
-
Chakravarti, A.1
-
35
-
-
0028862473
-
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease
-
Attié T, Hill M, Pelet A, Amiel J, Edery P, Boutrand L et coll. Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. Hum Mol Genet 1995;4:2407-9.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2407-2409
-
-
Attié, T.1
Hill, M.2
Pelet, A.3
Amiel, J.4
Edery, P.5
Boutrand, L.6
-
36
-
-
0006457459
-
Mutations of the endothelin-3 gene in the Waardenburg-Hirschsprung disease
-
Edery P, Attie T, Amiel J, Pelet A, Eng C, Hofstra RM et coll. Mutations of the endothelin-3 gene in the Waardenburg-Hirschsprung disease. Nat Genet 1996; 12:442-4.
-
(1996)
Nat Genet
, vol.12
, pp. 442-444
-
-
Edery, P.1
Attie, T.2
Amiel, J.3
Pelet, A.4
Eng, C.5
Hofstra, R.M.6
-
37
-
-
0031064340
-
Molecular basis of congenital hypopigmentary disorders in humans
-
Boissy RE, Nordlund JJ. Molecular basis of congenital hypopigmentary disorders in humans. Pigment Cell Res 1997; 10:12-24.
-
(1997)
Pigment Cell Res
, vol.10
, pp. 12-24
-
-
Boissy, R.E.1
Nordlund, J.J.2
-
38
-
-
0026673448
-
Cochlear disorder associated with melanocyte anomaly in mice with transgenic insertional mutation
-
Tachibana M. Cochlear disorder associated with melanocyte anomaly in mice with transgenic insertional mutation. Mol Cell Neurosci 1992;3:433-45.
-
(1992)
Mol Cell Neurosci
, vol.3
, pp. 433-445
-
-
Tachibana, M.1
-
39
-
-
0018701635
-
Origins of avian ocular and periocular tissues
-
Johnston MC, Noden DM, Hazelton RD, Coulombre JL, Coulombre AJ. Origins of avian ocular and periocular tissues. Exp Eye Res 1979;29:27-43.
-
(1979)
Exp Eye Res
, vol.29
, pp. 27-43
-
-
Johnston, M.C.1
Noden, D.M.2
Hazelton, R.D.3
Coulombre, J.L.4
Coulombre, A.J.5
-
40
-
-
0030973113
-
Piebaldism, Waardenburg syndrome and related disorders of melanocytes development
-
Spritz RA. Piebaldism, Waardenburg syndrome and related disorders of melanocytes development. Sem Cut Med Surg 1997;16:15-23.
-
(1997)
Sem Cut Med Surg
, vol.16
, pp. 15-23
-
-
Spritz, R.A.1
-
42
-
-
0020967681
-
Correction of congenital orbital abnormalities
-
Morax S. Correction of congenital orbital abnormalities. Orbit 1983;2:121.
-
(1983)
Orbit
, vol.2
, pp. 121
-
-
Morax, S.1
-
43
-
-
4243717800
-
-
Rapport de la Société Française d'Ophtalmologie, Paris, Masson
-
Adenis JP, Morax S. Pathologie orbitopalpébrale. Rapport de la Société Française d'Ophtalmologie, Paris, Masson, 1998, 95-9.
-
(1998)
Pathologie Orbitopalpébrale
, pp. 95-99
-
-
Adenis, J.P.1
Morax, S.2
-
44
-
-
0003411380
-
-
Rapport de la Société Française d'Ophtalmologie, Paris, Masson
-
Rougier J, Tessier P, Hervouet F, Woillez M, Lekieffre M, Derôme P. Chirurgie Plastique Orbito-Palpébrale. Rapport de la Société Française d'Ophtalmologie, Paris, Masson, 1977;369-82;305-26.
-
(1977)
Chirurgie Plastique Orbito-Palpébrale
, pp. 369-382
-
-
Rougier, J.1
Tessier, P.2
Hervouet, F.3
Woillez, M.4
Lekieffre, M.5
Derôme, P.6
|