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6. 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 [Abstract] [Full Text] [Related]
7. 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 [Abstract] [Full Text] [Related]
11. Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease. Attié T, Till M, Pelet A, Edery P, Bonnet JP, Munnich A, Lyonnet S. J Med Genet; 1995 Apr; 32(4):312-3. PubMed ID: 7643365 [Abstract] [Full Text] [Related]
12. Analysis of variability of clinical manifestations in Waardenburg syndrome. Reynolds JE, Meyer JM, Landa B, Stevens CA, Arnos KS, Israel J, Marazita ML, Bodurtha J, Nance WE, Diehl SR. Am J Med Genet; 1995 Jul 17; 57(4):540-7. PubMed ID: 7573125 [Abstract] [Full Text] [Related]
13. Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease. Basel-Vanagaite L, Pelet A, Steiner Z, Munnich A, Rozenbach Y, Shohat M, Lyonnet S. Eur J Hum Genet; 2007 Feb 17; 15(2):242-5. PubMed ID: 17091122 [Abstract] [Full Text] [Related]
14. [Atypical manifestations in familial type 1 Waardenburg syndrome]. Sans B, Calvas P, Bazex J. Ann Dermatol Venereol; 1998 Jan 17; 125(1):37-41. PubMed ID: 9747206 [Abstract] [Full Text] [Related]
15. [Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy]. Amiel J, Salomon R, Attié-Bitach T, Touraine R, Steffann J, Pelet A, Nihoul-Fékété C, Vekemans M, Munnich A, Lyonnet S. J Soc Biol; 2000 Jan 17; 194(3-4):125-8. PubMed ID: 11324313 [Abstract] [Full Text] [Related]