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Items: 1 to 20 of 134

1.

Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease.

Jiang Q, Ho YY, Hao L, Nichols Berrios C, Chakravarti A.

PLoS One. 2011;6(6):e21219. doi: 10.1371/journal.pone.0021219. Epub 2011 Jun 21.

2.

Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease.

Sánchez-Mejías A, Núñez-Torres R, Fernández RM, Antiñolo G, Borrego S.

BMC Med Genet. 2010 May 11;11:71. doi: 10.1186/1471-2350-11-71.

3.

Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease.

Cantrell VA, Owens SE, Chandler RL, Airey DC, Bradley KM, Smith JR, Southard-Smith EM.

Hum Mol Genet. 2004 Oct 1;13(19):2289-301. Epub 2004 Aug 4. Erratum in: Hum Mol Genet. 2004 Dec 15;13(24):3241.

PMID:
15294878
4.

Genetics of Hirschsprung disease.

Parisi MA, Kapur RP.

Curr Opin Pediatr. 2000 Dec;12(6):610-7. Review.

PMID:
11106284
5.

Genome-wide linkage identifies novel modifier loci of aganglionosis in the Sox10Dom model of Hirschsprung disease.

Owens SE, Broman KW, Wiltshire T, Elmore JB, Bradley KM, Smith JR, Southard-Smith EM.

Hum Mol Genet. 2005 Jun 1;14(11):1549-58. Epub 2005 Apr 20.

PMID:
15843399
6.

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.

7.

A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique.

Núñez-Torres R, Fernández RM, López-Alonso M, Antiñolo G, Borrego S.

BMC Med Genet. 2009 Nov 19;10:119. doi: 10.1186/1471-2350-10-119.

8.

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
9.

The developmental etiology and pathogenesis of Hirschsprung disease.

Butler Tjaden NE, Trainor PA.

Transl Res. 2013 Jul;162(1):1-15. doi: 10.1016/j.trsl.2013.03.001. Epub 2013 Mar 22. Review.

10.

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.

11.

Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in 80 patients with Hirschsprung disease (using multiplex ligation-dependent probe amplification).

Serra A, Görgens H, Alhadad K, Ziegler A, Fitze G, Schackert HK.

Ann Hum Genet. 2009 Mar;73(2):147-51. doi: 10.1111/j.1469-1809.2008.00503.x. Epub 2009 Jan 14.

12.

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. Epub 2014 Aug 28.

13.

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
14.

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
15.

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.

16.

A genome-wide association analysis of chromosomal aberrations and Hirschsprung disease.

Bae JS, Koh I, Cheong HS, Seo JM, Kim DY, Oh JT, Kim HY, Jung K, Sul JH, Park WY, Kim JH, Shin HD.

Transl Res. 2016 Nov;177:31-40.e6. doi: 10.1016/j.trsl.2016.06.001. Epub 2016 Jun 14.

PMID:
27370899
17.

Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in central congenital hyperventilation syndrome patients by multiplex ligation-dependent probe amplification.

Serra A, Görgens H, Alhadad K, Fitze G, Schackert HK.

Ann Hum Genet. 2010 Jul;74(4):369-74. doi: 10.1111/j.1469-1809.2010.00577.x. Epub 2010 Apr 25.

18.

A Novel Zebrafish ret Heterozygous Model of Hirschsprung Disease Identifies a Functional Role for mapk10 as a Modifier of Enteric Nervous System Phenotype Severity.

Heanue TA, Boesmans W, Bell DM, Kawakami K, Vanden Berghe P, Pachnis V.

PLoS Genet. 2016 Nov 30;12(11):e1006439. doi: 10.1371/journal.pgen.1006439. eCollection 2016 Nov.

19.

A De Novo novel mutation of the EDNRB gene in a Taiwanese boy with Hirschsprung disease.

Chen WC, Chang SS, Sy ED, Tsai MC.

J Formos Med Assoc. 2006 Apr;105(4):349-54.

20.

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

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