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Results: 1 to 20 of 108

Related Citations for PubMed (Select 24613280)

1.

Genetic mosaicism of a frameshift mutation in the RET gene in a family with Hirschsprung disease.

Müller CM, Haase MG, Kemnitz I, Fitze G.

Gene. 2014 May 10;541(1):51-4. doi: 10.1016/j.gene.2014.02.027. Epub 2014 Mar 7.

PMID:
24613280
2.

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
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.

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;15(2):242-5. Epub 2006 Nov 8.

5.

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
6.

Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus.

de Pontual L, Pelet A, Trochet D, Jaubert F, Espinosa-Parrilla Y, Munnich A, Brunet JF, Goridis C, Feingold J, Lyonnet S, Amiel J.

J Med Genet. 2006 May;43(5):419-23. Epub 2006 Jan 27.

7.

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
8.

Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events.

Núñez-Torres R, Fernández RM, Acosta MJ, Enguix-Riego Mdel V, Marbá M, Carlos de Agustín J, Castaño L, Antiñolo G, Borrego S.

BMC Med Genet. 2011 Oct 13;12:138. doi: 10.1186/1471-2350-12-138.

9.

Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site.

Geneste O, Bidaud C, De Vita G, Hofstra RM, Tartare-Deckert S, Buys CH, Lenoir GM, Santoro M, Billaud M.

Hum Mol Genet. 1999 Oct;8(11):1989-99.

10.

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. doi: 10.1016/j.jpedsurg.2007.10.021.

PMID:
18280283
11.

RET mutation profile and variable clinical manifestations in a family with multiple endocrine neoplasia type 2A and Hirschsprung's disease.

Pasini B, Rossi R, Ambrosio MR, Zatelli MC, Gullo M, Gobbo M, Collini P, Aiello A, Pansini G, Trasforini G, degli Uberti EC.

Surgery. 2002 Apr;131(4):373-81.

PMID:
11935126
12.
13.

Familial associations in medullary thyroid carcinoma with Hirschsprung disease: the role of the RET-C620 "Janus" genetic variation.

Moore SW, Zaahl M.

J Pediatr Surg. 2010 Feb;45(2):393-6. doi: 10.1016/j.jpedsurg.2009.10.080.

PMID:
20152359
14.

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
15.

A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes.

Ruiz-Ferrer M, Fernández RM, Antiñolo G, López-Alonso M, Eng C, Borrego S.

Genet Med. 2006 Nov;8(11):704-10.

PMID:
17108762
16.

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.

17.

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
18.

A novel Czech kindred with familial medullary thyroid carcinoma and Hirschsprung's disease.

Dvoráková S, Dvoráková K, Malíková M, Skába R, Vlcek P, Bendlová B.

J Pediatr Surg. 2005 Jun;40(6):e1-6.

PMID:
15991157
19.

Clinical and genetic differences in total colonic aganglionosis in Hirschsprung's disease.

Moore SW, Zaahl M.

J Pediatr Surg. 2009 Oct;44(10):1899-903. doi: 10.1016/j.jpedsurg.2009.04.026.

PMID:
19853744
20.

RET and NRG1 interplay in Hirschsprung disease.

Gui H, Tang WK, So MT, Proitsi P, Sham PC, Tam PK, Ngan ES, Cherny SS, Garcia-Barceló MM.

Hum Genet. 2013 May;132(5):591-600. doi: 10.1007/s00439-013-1272-9. Epub 2013 Feb 12. Erratum in: Hum Genet. 2014 May;133(5):677. Sau-Wai Ngan, Elly [corrected to Ngan, Elly Sau-Wai].

PMID:
23400839
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