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Items: 1 to 20 of 106

1.

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
2.

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
3.

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.

Angrist M, Bolk S, Thiel B, Puffenberger EG, Hofstra RM, Buys CH, Cass DT, Chakravarti A.

Hum Mol Genet. 1995 May;4(5):821-30.

PMID:
7633441
4.

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
5.

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.

6.

A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.

Borrego S, Wright FA, Fernández RM, Williams N, López-Alonso M, Davuluri R, Antiñolo G, Eng C.

Am J Hum Genet. 2003 Jan;72(1):88-100. Epub 2002 Dec 9.

7.

Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR).

Fitze G, Appelt H, König IR, Görgens H, Stein U, Walther W, Gossen M, Schreiber M, Ziegler A, Roesner D, Schackert HK.

Hum Mol Genet. 2003 Dec 15;12(24):3207-14. Epub 2003 Nov 4.

PMID:
14600022
8.

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.

PMID:
8896568
9.

Low RET mutation frequency and polymorphism analysis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan.

Wu TT, Tsai TW, Chu CT, Lee ZF, Hung CM, Su CC, Li SY, Hsieh M, Li C.

J Hum Genet. 2005;50(4):168-74. Epub 2005 Apr 15.

PMID:
15834508
10.

Identifying candidate Hirschsprung disease-associated RET variants.

Burzynski GM, Nolte IM, Bronda A, Bos KK, Osinga J, Plaza Menacho I, Twigt B, Maas S, Brooks AS, Verheij JB, Buys CH, Hofstra RM.

Am J Hum Genet. 2005 May;76(5):850-8. Epub 2005 Mar 9.

11.

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.

Salomon R, Attié T, Pelet A, Bidaud C, Eng C, Amiel J, Sarnacki S, Goulet O, Ricour C, Nihoul-Fékété C, Munnich A, Lyonnet S.

Nat Genet. 1996 Nov;14(3):345-7.

PMID:
8896569
12.

Familial form of hirschsprung disease: nucleotide sequence studies reveal point mutations in the RET proto-oncogene in two of six families but not in other candidate genes.

Munnes M, Fanaei S, Schmitz B, Muiznieks I, Holschneider AM, Doerfler W.

Am J Med Genet. 2000 Sep 4;94(1):19-27.

PMID:
10982477
13.

Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility.

Angrist M, Jing S, Bolk S, Bentley K, Nallasamy S, Halushka M, Fox GM, Chakravarti A.

Genomics. 1998 Mar 15;48(3):354-62.

PMID:
9545641
14.

Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249.

Fernandez RM, Boru G, Peciña A, Jones K, López-Alonso M, Antiñolo G, Borrego S, Eng C.

J Med Genet. 2005 Apr;42(4):322-7. Erratum in: J Med Genet. 2005 Jun;42(6):502.

15.

Specific haplotypes of the RET proto-oncogene are over-represented in patients with sporadic papillary thyroid carcinoma.

Lesueur F, Corbex M, McKay JD, Lima J, Soares P, Griseri P, Burgess J, Ceccherini I, Landolfi S, Papotti M, Amorim A, Goldgar DE, Romeo G.

J Med Genet. 2002 Apr;39(4):260-5.

16.

Cloning and characterization of the human GFRA2 locus and investigation of the gene in Hirschsprung disease.

Vanhorne JB, Gimm O, Myers SM, Kaushik A, von Deimling A, Eng C, Mulligan LM.

Hum Genet. 2001 May;108(5):409-15.

PMID:
11409869
17.

TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease.

Garcia-Barcelo M, Ganster RW, Lui VC, Leon TY, So MT, Lau AM, Fu M, Sham MH, Knight J, Zannini MS, Sham PC, Tam PK.

Hum Mol Genet. 2005 Jan 15;14(2):191-204. Epub 2004 Nov 17.

PMID:
15548547
18.

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
19.

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.

Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, Burzynski G, Fernandez RM, Hao L, Kashuk C, West K, Miao X, Tam PK, Griseri P, Ceccherini I, Pelet A, Jannot AS, de Pontual L, Henrion-Caude A, Lyonnet S, Verheij JB, Hofstra RM, Antiñolo G, Borrego S, McCallion AS, Chakravarti A.

Am J Hum Genet. 2010 Jul 9;87(1):60-74. doi: 10.1016/j.ajhg.2010.06.007.

20.

Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease.

Gath R, Goessling A, Keller KM, Koletzko S, Coerdt W, Müntefering H, Wirth S, Hofstra RM, Mulligan L, Eng C, von Deimling A.

Gut. 2001 May;48(5):671-5.

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