Literature DB >> 9915973

A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction.

R M Hofstra, O Valdenaire, E Arch, J Osinga, H Kroes, B M Löffler, A Hamosh, C Meijers, C H Buys.   

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Year:  1999        PMID： 9915973      PMCID： PMC1377732          DOI： 10.1086/302184

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


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  34 in total

Review 1.  Developmental disorders of the enteric nervous system.

Authors:  R P Kapur
Journal:  Gut       Date:  2000-12       Impact factor: 23.059

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.  Association study of PHOX2B as a candidate gene for Hirschsprung's disease.

Authors:  M Garcia-Barceló; M H Sham; V C H Lui; B L S Chen; J Ott; P K H Tam
Journal:  Gut       Date:  2003-04       Impact factor: 23.059

Review 4.  Genetic interactions and modifier genes in Hirschsprung's disease.

Authors:  Adam S Wallace; Richard B Anderson
Journal:  World J Gastroenterol       Date:  2011-12-07       Impact factor: 5.742

Review 5.  The neural crest in cardiac congenital anomalies.

Authors:  Anna Keyte; Mary Redmond Hutson
Journal:  Differentiation       Date:  2012-05-15       Impact factor: 3.880

Review 6.  Animal models in pediatric surgery.

Authors:  A Mortell; S Montedonico; P Puri
Journal:  Pediatr Surg Int       Date:  2005-12-06       Impact factor: 1.827

Review 7.  The genetic and molecular bases of monogenic disorders affecting proteolytic systems.

Authors:  I Richard
Journal:  J Med Genet       Date:  2005-07       Impact factor: 6.318

Review 8.  How to innervate a simple gut: familiar themes and unique aspects in the formation of the insect enteric nervous system.

Authors:  Philip F Copenhaver
Journal:  Dev Dyn       Date:  2007-07       Impact factor: 3.780

Review 9.  New Insights of a Neuronal Peptidase DINE/ECEL1: Nerve Development, Nerve Regeneration and Neurogenic Pathogenesis.

Authors:  Sumiko Kiryu-Seo; Kenichi Nagata; Takaomi C Saido; Hiroshi Kiyama
Journal:  Neurochem Res       Date:  2018-10-24       Impact factor: 3.996

10.  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
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