465 related articles for article (PubMed ID: 20127975)
1. Review and update of mutations causing Waardenburg syndrome.
Pingault V; Ente D; Dastot-Le Moal F; Goossens M; Marlin S; Bondurand N
Hum Mutat; 2010 Apr; 31(4):391-406. PubMed ID: 20127975
[TBL] [Abstract][Full Text] [Related]
2. Waardenburg syndrome type 1.
Karaman A; Aliagaoglu C
Dermatol Online J; 2006 Mar; 12(3):21. PubMed ID: 16638435
[TBL] [Abstract][Full Text] [Related]
3. Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease.
Syrris P; Carter ND; Patton MA
Am J Med Genet; 1999 Nov; 87(1):69-71. PubMed ID: 10528251
[TBL] [Abstract][Full Text] [Related]
4. Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family.
Lalwani AK; Attaie A; Randolph FT; Deshmukh D; Wang C; Mhatre A; Wilcox E
Am J Med Genet; 1998 Dec; 80(4):406-9. PubMed ID: 9856573
[TBL] [Abstract][Full Text] [Related]
5. Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
Chaoui A; Watanabe Y; Touraine R; Baral V; Goossens M; Pingault V; Bondurand N
Hum Mutat; 2011 Dec; 32(12):1436-49. PubMed ID: 21898658
[TBL] [Abstract][Full Text] [Related]
6. Waardenburg syndrome.
Konno P; Silm H
J Eur Acad Dermatol Venereol; 2001 Jul; 15(4):330-3. PubMed ID: 11730045
[TBL] [Abstract][Full Text] [Related]
7. SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
Pingault V; Bondurand N; Kuhlbrodt K; Goerich DE; Préhu MO; Puliti A; Herbarth B; Hermans-Borgmeyer I; Legius E; Matthijs G; Amiel J; Lyonnet S; Ceccherini I; Romeo G; Smith JC; Read AP; Wegner M; Goossens M
Nat Genet; 1998 Feb; 18(2):171-3. PubMed ID: 9462749
[TBL] [Abstract][Full Text] [Related]
8. [Waardenburg's syndrome].
Cacheux V; Delezoide AL; Vekemans M
C R Seances Soc Biol Fil; 1996; 190(5-6):577-80. PubMed ID: 9074723
[TBL] [Abstract][Full Text] [Related]
9. Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: Differential effects on target gene regulation.
Chan KK; Wong CK; Lui VC; Tam PK; Sham MH
J Cell Biochem; 2003 Oct; 90(3):573-85. PubMed ID: 14523991
[TBL] [Abstract][Full Text] [Related]
10. Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders.
Yokoyama S; Takeda K; Shibahara S
J Biochem; 2006 Oct; 140(4):491-9. PubMed ID: 16921166
[TBL] [Abstract][Full Text] [Related]
11. 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; Wu Y; Kamsteeg EJ; Stulp RP; van Ravenswaaij-Arts C; Majoor-Krakauer D; Angrist M; Chakravarti A; Meijers C; Buys CH
Nat Genet; 1996 Apr; 12(4):445-7. PubMed ID: 8630503
[TBL] [Abstract][Full Text] [Related]
12. Incidences of dystopia canthorum and some other signs in a family with Waardenburg syndrome type I.
Yoshino M; Nakao M; Shiotsuki Y; Nishiyori A; Yamashita F; Karukaya S; Yoshimura H; Nishida H; Shiotani N; Sugita A
Jinrui Idengaku Zasshi; 1986 Dec; 31(4):373-8. PubMed ID: 3613244
[No Abstract] [Full Text] [Related]
13. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).
Edery P; Attié T; Amiel J; Pelet A; Eng C; Hofstra RM; Martelli H; Bidaud C; Munnich A; Lyonnet S
Nat Genet; 1996 Apr; 12(4):442-4. PubMed ID: 8630502
[TBL] [Abstract][Full Text] [Related]
14. Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.
Liu XZ; Newton VE; Read AP
Am J Med Genet; 1995 Jan; 55(1):95-100. PubMed ID: 7702105
[TBL] [Abstract][Full Text] [Related]
15. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.
Tassabehji M; Newton VE; Read AP
Nat Genet; 1994 Nov; 8(3):251-5. PubMed ID: 7874167
[TBL] [Abstract][Full Text] [Related]
16. The transcription factor onecut-2 controls the microphthalmia-associated transcription factor gene.
Jacquemin P; Lannoy VJ; O'Sullivan J; Read A; Lemaigre FP; Rousseau GG
Biochem Biophys Res Commun; 2001 Aug; 285(5):1200-5. PubMed ID: 11478782
[TBL] [Abstract][Full Text] [Related]
17. [Atypical manifestations in familial type 1 Waardenburg syndrome].
Sans B; Calvas P; Bazex J
Ann Dermatol Venereol; 1998 Jan; 125(1):37-41. PubMed ID: 9747206
[TBL] [Abstract][Full Text] [Related]
18. Mutations of PAX3 unlikely in Waardenburg syndrome type 2.
Arias S
Nat Genet; 1993 Sep; 5(1):8. PubMed ID: 8220430
[No Abstract] [Full Text] [Related]
19. Finding the gene(s) for Waardenburg syndrome(s).
Grundfast KM; San Agustin TB
Otolaryngol Clin North Am; 1992 Oct; 25(5):935-51. PubMed ID: 1408197
[TBL] [Abstract][Full Text] [Related]
20. Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).
Amiel J; Watkin PM; Tassabehji M; Read AP; Winter RM
Clin Dysmorphol; 1998 Jan; 7(1):17-20. PubMed ID: 9546825
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
