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7. 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]
8. 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]
9. [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]
10. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Southard-Smith EM; Kos L; Pavan WJ Nat Genet; 1998 Jan; 18(1):60-4. PubMed ID: 9425902 [TBL] [Abstract][Full Text] [Related]
11. A review of genetic mutation in familial Hirschsprung's disease in South Africa: towards genetic counseling. Moore SW; Zaahl MG J Pediatr Surg; 2008 Feb; 43(2):325-9. PubMed ID: 18280283 [TBL] [Abstract][Full Text] [Related]
12. Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in central congenital hyperventilation syndrome patients by multiplex ligation-dependent probe amplification. Serra A; Görgens H; Alhadad K; Fitze G; Schackert HK Ann Hum Genet; 2010 Jul; 74(4):369-74. PubMed ID: 20456320 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. [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]
16. SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. Pingault V; Girard M; Bondurand N; Dorkins H; Van Maldergem L; Mowat D; Shimotake T; Verma I; Baumann C; Goossens M Hum Genet; 2002 Aug; 111(2):198-206. PubMed ID: 12189494 [TBL] [Abstract][Full Text] [Related]
17. [Endothelin B receptor system and Hirschsprung disease]. Inoue M; Kusafuka T; Okada A Nihon Rinsho; 1998 Jul; 56(7):1876-80. PubMed ID: 9702069 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Angrist M; Bolk S; Halushka M; Lapchak PA; Chakravarti A Nat Genet; 1996 Nov; 14(3):341-4. PubMed ID: 8896568 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]