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4. Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. Bidaud C; Salomon R; Van Camp G; Pelet A; Attié T; Eng C; Bonduelle M; Amiel J; Nihoul-Fékété C; Willems PJ; Munnich A; Lyonnet S Eur J Hum Genet; 1997; 5(4):247-51. PubMed ID: 9359047 [TBL] [Abstract][Full Text] [Related]
5. 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]
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8. Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene. Badner JA; Chakravarti A Am J Med Genet; 1990 Jan; 35(1):100-4. PubMed ID: 2301458 [TBL] [Abstract][Full Text] [Related]
9. Second locus for Hirschsprung disease/Waardenburg syndrome in a large Mennonite kindred. Dow E; Cross S; Wolgemuth DJ; Lyonnet S; Mulligan LM; Mascari M; Ladda R; Williamson R Am J Med Genet; 1994 Oct; 53(1):75-80. PubMed ID: 7802041 [TBL] [Abstract][Full Text] [Related]
11. Waardenburg-Hirschsprung disease in two sisters: a possible clue to the genetics of this association? Bonnet JP; Till M; Edery P; Attie T; Lyonnet S Eur J Pediatr Surg; 1996 Aug; 6(4):245-8. PubMed ID: 8877363 [TBL] [Abstract][Full Text] [Related]
12. Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung disease. Pingault V; Puliti A; Préhu MO; Samadi A; Bondurand N; Goossens M Genomics; 1997 Jan; 39(1):86-9. PubMed ID: 9027489 [TBL] [Abstract][Full Text] [Related]
13. [From monogenic to polygenic: model of Hirschsprung disease]. Salomon R; Amiel J; Attié T; Pelet A; Munnich A; Lyonnet S Pathol Biol (Paris); 1998 Nov; 46(9):705-7. PubMed ID: 9885824 [TBL] [Abstract][Full Text] [Related]
14. The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. Southard-Smith EM; Angrist M; Ellison JS; Agarwala R; Baxevanis AD; Chakravarti A; Pavan WJ Genome Res; 1999 Mar; 9(3):215-25. PubMed ID: 10077527 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Amiel J; Attié T; Jan D; Pelet A; Edery P; Bidaud C; Lacombe D; Tam P; Simeoni J; Flori E; Nihoul-Fékété C; Munnich A; Lyonnet S Hum Mol Genet; 1996 Mar; 5(3):355-7. PubMed ID: 8852660 [TBL] [Abstract][Full Text] [Related]
17. Mutation analysis of endothelin-B receptor gene in patients with Hirschsprung disease in Taiwan. Lin YC; Lai HS; Hsu WM; Lee PI; Chen HL; Chang MH J Pediatr Gastroenterol Nutr; 2008 Jan; 46(1):36-40. PubMed ID: 18162831 [TBL] [Abstract][Full Text] [Related]
18. EDNRB/EDN3 and Hirschsprung disease type II. McCallion AS; Chakravarti A Pigment Cell Res; 2001 Jun; 14(3):161-9. PubMed ID: 11434563 [TBL] [Abstract][Full Text] [Related]
19. [Genetics of Hirschsprung disease]. Attié T; Salomon R; Amiel J; Edery P; Pelet A; Nihoul-Fékété C; Munnich A; Lyonnet S C R Seances Soc Biol Fil; 1996; 190(5-6):549-56. PubMed ID: 9074720 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]