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2. A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? Pingault V; Bondurand N; Lemort N; Sancandi M; Ceccherini I; Hugot JP; Jouk PS; Goossens M J Med Genet; 2001 Mar; 38(3):205-9. PubMed ID: 11303518 [No Abstract] [Full Text] [Related]
3. A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV. Morín M; Viñuela A; Rivera T; Villamar M; Moreno-Pelayo MA; Moreno F; del Castillo I Am J Med Genet A; 2008 Apr; 146A(8):1032-7. PubMed ID: 18348274 [No Abstract] [Full Text] [Related]
4. SOX10 mutation in Waardenburg syndrome type II. Iso M; Fukami M; Horikawa R; Azuma N; Kawashiro N; Ogata T Am J Med Genet A; 2008 Aug; 146A(16):2162-3. PubMed ID: 18627047 [No Abstract] [Full Text] [Related]
5. ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. Verheij JB; Kunze J; Osinga J; van Essen AJ; Hofstra RM Am J Med Genet; 2002 Mar; 108(3):223-5. PubMed ID: 11891690 [TBL] [Abstract][Full Text] [Related]
6. Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV. Viñuela A; Morín M; Villamar M; Morera C; Lavilla MJ; Cavallé L; Moreno-Pelayo MA; Moreno F; del Castillo I Am J Med Genet A; 2009 Oct; 149A(10):2296-302. PubMed ID: 19764030 [No Abstract] [Full Text] [Related]
7. Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature. Verheij JB; Sival DA; van der Hoeven JH; Vos YJ; Meiners LC; Brouwer OF; van Essen AJ Eur J Paediatr Neurol; 2006 Jan; 10(1):11-7. PubMed ID: 16504559 [TBL] [Abstract][Full Text] [Related]
8. Impaired autonomic control of the heart by SOX10 mutation. Korsch E; Steinkuhle J; Massin M; Lyonnet S; Touraine RL Eur J Pediatr; 2001 Jan; 160(1):68-9. PubMed ID: 11195028 [TBL] [Abstract][Full Text] [Related]
9. A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease. Sznajer Y; Coldéa C; Meire F; Delpierre I; Sekhara T; Touraine RL Am J Med Genet A; 2008 Apr; 146A(8):1038-41. PubMed ID: 18348267 [TBL] [Abstract][Full Text] [Related]
10. Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature. Toki F; Suzuki N; Inoue K; Suzuki M; Hirakata K; Nagai K; Kuroiwa M; Lupski JR; Tsuchida Y Pediatr Surg Int; 2003 Dec; 19(11):725-8. PubMed ID: 14691634 [TBL] [Abstract][Full Text] [Related]
11. Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome. Sham MH; Lui VC; Chen BL; Fu M; Tam PK J Med Genet; 2001 Sep; 38(9):E30. PubMed ID: 11546831 [No Abstract] [Full Text] [Related]
12. Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4. Bondurand N; Fouquet V; Baral V; Lecerf L; Loundon N; Goossens M; Duriez B; Labrune P; Pingault V Eur J Hum Genet; 2012 Sep; 20(9):990-4. PubMed ID: 22378281 [TBL] [Abstract][Full Text] [Related]
13. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Bondurand N; Pingault V; Goerich DE; Lemort N; Sock E; Le Caignec C; Wegner M; Goossens M Hum Mol Genet; 2000 Aug; 9(13):1907-17. PubMed ID: 10942418 [TBL] [Abstract][Full Text] [Related]
14. Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q. Van Camp G; Van Thienen MN; Handig I; Van Roy B; Rao VS; Milunsky A; Read AP; Baldwin CT; Farrer LA; Bonduelle M J Med Genet; 1995 Jul; 32(7):531-6. PubMed ID: 7562965 [TBL] [Abstract][Full Text] [Related]
15. Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1. Soejima H; Fujimoto M; Tsukamoto K; Matsumoto N; Yoshiura KI; Fukushima Y; Jinno Y; Niikawa N Hum Mutat; 1997; 9(2):177-80. PubMed ID: 9067759 [No Abstract] [Full Text] [Related]
16. Can Waardenburg syndrome type 2 be explained by epigenetic mosaicism? Happle R Am J Med Genet A; 2021 Apr; 185(4):1304-1306. PubMed ID: 33438357 [No Abstract] [Full Text] [Related]
17. Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3. Potterf SB; Furumura M; Dunn KJ; Arnheiter H; Pavan WJ Hum Genet; 2000 Jul; 107(1):1-6. PubMed ID: 10982026 [TBL] [Abstract][Full Text] [Related]
18. Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret. Lang D; Chen F; Milewski R; Li J; Lu MM; Epstein JA J Clin Invest; 2000 Oct; 106(8):963-71. PubMed ID: 11032856 [TBL] [Abstract][Full Text] [Related]
19. A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family. Butt J; Greenberg J; Winship I; Sellars S; Beighton P; Ramesar R Hum Mol Genet; 1994 Jan; 3(1):197-8. PubMed ID: 8162027 [No Abstract] [Full Text] [Related]
20. Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome. Stevenson RE; Vincent V; Spellicy CJ; Friez MJ; Chaubey A Am J Med Genet A; 2018 Sep; 176(9):1968-1971. PubMed ID: 30113773 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]