Literature DB >> 3385744

Intrauterine death in megacystis-microcolon-intestinal hypoperistalsis syndrome.

S A Farrell1.   

Abstract

Megacystis-microcolon-intestinal hypoperistalsis syndrome is an uncommon condition, possibly inherited as an autosomal recessive trait. This report describes an affected sib pair with intrauterine death of one of the sibs.

Entities:  

Mesh：

Year:  1988        PMID： 3385744      PMCID： PMC1050465          DOI： 10.1136/jmg.25.5.350

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  5 in total

1.  Megacystis-microcolon-intestinal hypoperistalsis syndrome: a rare cause of intestinal obstruction in the newborn.

Authors:  R Patel; H Carty
Journal:  Br J Radiol       Date:  1980-03       Impact factor: 3.039

2.  Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls.

Authors:  W E Berdon; D H Baker; W A Blanc; B Gay; T V Santulli; C Donovan
Journal:  AJR Am J Roentgenol       Date:  1976-05       Impact factor: 3.959

3.  Megacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance.

Authors:  R M Winter; S A Knowles
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318

4.  Megacystis-microcolon-intestinal hypoperistalsis syndrome in a newborn girl whose brother had prune belly syndrome: common pathogenesis?

Authors:  G Oliveira; M I Boechat; M A Ferreira
Journal:  Pediatr Radiol       Date:  1983

5.  Megacystis-microcolon-intestinal hypoperistalsis syndrome: a visceral myopathy.

Authors:  P Puri; B D Lake; F Gorman; B O'Donnell; H H Nixon
Journal:  J Pediatr Surg       Date:  1983-02       Impact factor: 2.545
  5 in total
  3 in total

1.  Prenatal diagnosis of the megacystis-microcolon-intestinal hypoperistalsis syndrome.

Authors:  I D Young; P A McKeever; L A Brown; G D Lang
Journal:  J Med Genet       Date:  1989-06       Impact factor: 6.318

Review 2.  Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review.

Authors:  Danielle Mc Laughlin; Prem Puri
Journal:  Pediatr Surg Int       Date:  2013-09       Impact factor: 1.827

3.  Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

Authors:  Michael F Wangler; Claudia Gonzaga-Jauregui; Tomasz Gambin; Samantha Penney; Timothy Moss; Atul Chopra; Frank J Probst; Fan Xia; Yaping Yang; Steven Werlin; Ieva Eglite; Liene Kornejeva; Carlos A Bacino; Dustin Baldridge; Jeff Neul; Efrat Lev Lehman; Austin Larson; Joke Beuten; Donna M Muzny; Shalini Jhangiani; Richard A Gibbs; James R Lupski; Arthur Beaudet
Journal:  PLoS Genet       Date:  2014-03-27       Impact factor: 5.917
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.