Literature DB >> 10090908

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.

A Auricchio, P Griseri, M L Carpentieri, N Betsos, A Staiano, A Tozzi, M Priolo, H Thompson, R Bocciardi, G Romeo, A Ballabio, I Ceccherini.   

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Year:  1999        PMID： 10090908      PMCID： PMC1377847          DOI： 10.1086/302329

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  30 in total

1.  Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease.

Authors:  G Fitze; M Schreiber; E Kuhlisch; H K Schackert; D Roesner
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

Review 2.  Hirschsprung disease, associated syndromes, and genetics: a review.

Authors:  J Amiel; S Lyonnet
Journal:  J Med Genet       Date:  2001-11       Impact factor: 6.318

3.  Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung's disease.

Authors:  Xiang-Long Duan; Xian-Sheng Zhang; Guo-Wei Li
Journal:  World J Gastroenterol       Date:  2003-12       Impact factor: 5.742

Review 4.  Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.

Authors:  Jeffrey E Ming; Maximilian Muenke
Journal:  Am J Hum Genet       Date:  2002-10-22       Impact factor: 11.025

5.  Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases.

Authors:  Syed A Ahmed; Karen Snow-Bailey; W Edward Highsmith; Weimin Sun; Raymond G Fenwick; Rong Mao
Journal:  J Mol Diagn       Date:  2005-05       Impact factor: 5.568

Review 6.  Genetic basis of Hirschsprung's disease.

Authors:  Paul K H Tam; Mercè Garcia-Barceló
Journal:  Pediatr Surg Int       Date:  2009-06-12       Impact factor: 1.827

Review 7.  Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET.

Authors:  S W Moore; M G Zaahl
Journal:  Pediatr Surg Int       Date:  2008-03-26       Impact factor: 1.827

8.  Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb.

Authors:  Andrew S McCallion; Erine Stames; Ronald A Conlon; Aravinda Chakravarti
Journal:  Proc Natl Acad Sci U S A       Date:  2003-02-06       Impact factor: 11.205

9.  Genomic features defining exonic variants that modulate splicing.

Authors:  Adam Woolfe; James C Mullikin; Laura Elnitski
Journal:  Genome Biol       Date:  2010-02-16       Impact factor: 13.583

10.  Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies.

Authors:  Bin Zhang; Jufang Chang; Ming Fu; Jie Huang; Rakesh Kashyap; Ezequiel Salavaggione; Sanjay Jain; Shashikant Kulkarni; Kulkarni Shashikant; Matthew A Deardorff; Maria L Giovannucci Uzielli; Dale Dorsett; David C Beebe; Patrick Y Jay; Robert O Heuckeroth; Ian Krantz; Jeffrey Milbrandt
Journal:  PLoS One       Date:  2009-05-01       Impact factor: 3.240
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