PubMed

Hirschsprung disease, associated syndromes and genetics: a review.

Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I, Hofstra RM, Fernandez R; Hirschsprung Disease Consortium.

J Med Genet. 2008 Jan;45(1):1-14. Epub 2007 Oct 26. Review.PMID: 17965226 [PubMed - indexed for MEDLINE]Related articles

Hirschsprung disease, associated syndromes, and genetics: a review.

Amiel J, Lyonnet S.

J Med Genet. 2001 Nov;38(11):729-39. Review.PMID: 11694544 [PubMed - indexed for MEDLINE]Related articlesFree article

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.

Attié T, Pelet A, Edery P, Eng C, Mulligan LM, Amiel J, Boutrand L, Beldjord C, Nihoul-Fékété C, Munnich A, et al.

Hum Mol Genet. 1995 Aug;4(8):1381-6.PMID: 7581377 [PubMed - indexed for MEDLINE]Related articles

[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. Review. French. PMID: 9885824 [PubMed - indexed for MEDLINE]Related articles

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

Edery P, Pelet A, Mulligan LM, Abel L, Attié T, Dow E, Bonneau D, David A, Flintoff W, Jan D, et al.

J Med Genet. 1994 Aug;31(8):602-6.PMID: 7815416 [PubMed - indexed for MEDLINE]Related articlesFree article

Hirschsprung, RET-SOX and beyond: the challenge of examining non-mendelian traits (Review).

Pusch CM, Sasiadek MM, Blin N.

Int J Mol Med. 2002 Oct;10(4):367-70. Review.PMID: 12239580 [PubMed - indexed for MEDLINE]Related articles

RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.

Hofstra RM, Wu Y, Stulp RP, Elfferich P, Osinga J, Maas SM, Siderius L, Brooks AS, vd Ende JJ, Heydendael VM, Severijnen RS, Bax KM, Meijers C, Buys CH.

Hum Mutat. 2000;15(5):418-29.PMID: 10790203 [PubMed - indexed for MEDLINE]Related articles

[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;194(3-4):125-8. Review. French. PMID: 11324313 [PubMed - indexed for MEDLINE]Related articles

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.

de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis SE, Attie-Bitach T, Beales PL, Blouin JL, Dastot-Le Moal F, Dollfus H, Goossens M, Katsanis N, Touraine R, Feingold J, Munnich A, Lyonnet S, Amiel J.

Hum Mutat. 2007 Aug;28(8):790-6.PMID: 17397038 [PubMed - indexed for MEDLINE]Related articles

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

Emison ES, McCallion AS, Kashuk CS, Bush RT, Grice E, Lin S, Portnoy ME, Cutler DJ, Green ED, Chakravarti A.

Nature. 2005 Apr 14;434(7035):857-63.PMID: 15829955 [PubMed - indexed for MEDLINE]Related articles

Many faces of Hirschsprung's disease.

Godbole K.

Indian Pediatr. 2004 Nov;41(11):1115-23. Review.PMID: 15591661 [PubMed - indexed for MEDLINE]Related articlesFree article

Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease.

Garcia-Barceló M, Sham MH, Lee WS, Lui VC, Chen BL, Wong KK, Wong JS, Tam PK.

Clin Chem. 2004 Jan;50(1):93-100. Epub 2003 Nov 18.PMID: 14633923 [PubMed - indexed for MEDLINE]Related articlesFree article

Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.

Burzynski GM, Nolte IM, Osinga J, Ceccherini I, Twigt B, Maas S, Brooks A, Verheij J, Plaza Menacho I, Buys CH, Hofstra RM.

Eur J Hum Genet. 2004 Aug;12(8):604-12.PMID: 15138456 [PubMed - indexed for MEDLINE]Related articlesFree article

Within-gene interaction between c.135 G/A genotypes and RET proto-oncogene germline mutations in HSCR families.

Fitze G, Cramer J, Serra A, Schreiber M, Roesner D, Schackert HK.

Eur J Pediatr Surg. 2003 Jun;13(3):152-7.PMID: 12939698 [PubMed - indexed for MEDLINE]Related articles

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

Bolk S, Pelet A, Hofstra RM, Angrist M, Salomon R, Croaker D, Buys CH, Lyonnet S, Chakravarti A.

Proc Natl Acad Sci U S A. 2000 Jan 4;97(1):268-73.PMID: 10618407 [PubMed - indexed for MEDLINE]Related articlesFree article

RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.

Borrego S, Ruiz A, Saez ME, Gimm O, Gao X, López-Alonso M, Hernández A, Wright FA, Antiñolo G, Eng C.

J Med Genet. 2000 Aug;37(8):572-8.PMID: 10922382 [PubMed - indexed for MEDLINE]Related articlesFree article

Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression.

Borrego S, Sáez ME, Ruiz A, Gimm O, López-Alonso M, Antiñolo G, Eng C.

J Med Genet. 1999 Oct;36(10):771-4.PMID: 10528857 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 8852660 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 18280283 [PubMed - indexed for MEDLINE]Related articles

Segregation at three loci explains familial and population risk in Hirschsprung disease.

Gabriel SB, Salomon R, Pelet A, Angrist M, Amiel J, Fornage M, Attié-Bitach T, Olson JM, Hofstra R, Buys C, Steffann J, Munnich A, Lyonnet S, Chakravarti A.

Nat Genet. 2002 May;31(1):89-93. Epub 2002 Apr 15.PMID: 11953745 [PubMed - indexed for MEDLINE]Related articles