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Items: 1 to 20 of 109

1.

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.

2.

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.

3.

Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease.

Gunadi, Kapoor A, Ling AY, Rochadi, Makhmudi A, Herini ES, Sosa MX, Chatterjee S, Chakravarti A.

J Pediatr Surg. 2014 Nov;49(11):1614-8. doi: 10.1016/j.jpedsurg.2014.04.011.

4.

Genotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patients.

Zhang Z, Jiang Q, Li Q, Cheng W, Qiao G, Xiao P, Gan L, Su L, Miao C, Li L.

Int J Clin Exp Pathol. 2015 May 1;8(5):5528-34.

5.

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. Erratum in: Hum Genet. 2014 May;133(5):677. Sau-Wai Ngan, Elly [corrected to Ngan, Elly Sau-Wai].

PMID:
23400839
6.

RET variants and haplotype analysis in a cohort of Czech patients with Hirschsprung disease.

Vaclavikova E, Dvorakova S, Skaba R, Pos L, Sykorova V, Halkova T, Vcelak J, Bendlova B.

PLoS One. 2014 Jun 4;9(6):e98957. doi: 10.1371/journal.pone.0098957.

7.

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

So MT, Leon TY, Cheng G, Tang CS, Miao XP, Cornes BK, Diem NN, Cui L, Ngan ES, Lui VC, Wu XZ, Wang B, Wang H, Yuan ZW, Huang LM, Li L, Xia H, Zhu D, Liu J, Nguyen TL, Chan IH, Chung PH, Liu XL, Zhang R, Wong KK, Sham PC, Cherny SS, Tam PK, Garcia-Barcelo MM.

PLoS One. 2011;6(12):e28986. doi: 10.1371/journal.pone.0028986.

8.

Mutational spectrum of semaphorin 3A and semaphorin 3D genes in Spanish Hirschsprung patients.

Luzón-Toro B, Fernández RM, Torroglosa A, de Agustín JC, Méndez-Vidal C, Segura DI, Antiñolo G, Borrego S.

PLoS One. 2013;8(1):e54800. doi: 10.1371/journal.pone.0054800.

9.

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.

10.

A common haplotype at the 5' end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression.

Griseri P, Bachetti T, Puppo F, Lantieri F, Ravazzolo R, Devoto M, Ceccherini I.

Hum Mutat. 2005 Feb;25(2):189-95.

PMID:
15643606
11.

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

Arnold S, Pelet A, Amiel J, Borrego S, Hofstra R, Tam P, Ceccherini I, Lyonnet S, Sherman S, Chakravarti A.

Hum Mutat. 2009 May;30(5):771-5. doi: 10.1002/humu.20944.

12.

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
13.

RET 3'UTR polymorphisms and its protective role in Hirschsprung disease in southeastern Chinese.

Pan ZW, Luo CF, Liu ZJ, Li JC.

J Pediatr Surg. 2012 Sep;47(9):1699-705. doi: 10.1016/j.jpedsurg.2012.03.057.

PMID:
22974609
14.

Screening of the RET gene of Vietnamese Hirschsprung patients identifies 2 novel missense mutations.

Ngo DN, So MT, Gui H, Tran AQ, Bui DH, Cherny S, Tam PK, Nguyen TL, Garcia-Barcelo MM.

J Pediatr Surg. 2012 Oct;47(10):1859-64. doi: 10.1016/j.jpedsurg.2012.05.020.

PMID:
23084198
15.

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
16.

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
17.

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.

18.

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.

PMID:
15834508
19.

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
20.

Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients.

Sangkhathat S, Kusafuka T, Chengkriwate P, Patrapinyokul S, Sangthong B, Fukuzawa M.

J Hum Genet. 2006;51(12):1126-32.

PMID:
17009072

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