Literature DB >> 11332973

Micro-ablepharon of the upper eyelids and vaginal atresia.

J P Fryns1.   

Abstract

Entities:  

Mesh:

Year:  2001        PMID: 11332973

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


× No keyword cloud information.
  4 in total

1.  Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

Authors:  Anne M Slavotinek; Sergio E Baranzini; Denny Schanze; Cassandre Labelle-Dumais; Kieran M Short; Ryan Chao; Mani Yahyavi; Emilia K Bijlsma; Catherine Chu; Stacey Musone; Ashleigh Wheatley; Pui-Yan Kwok; Sandra Marles; Jean-Pierre Fryns; A Murat Maga; Mohamed G Hassan; Douglas B Gould; Lohith Madireddy; Chumei Li; Timothy C Cox; Ian Smyth; Albert E Chudley; Martin Zenker
Journal:  J Med Genet       Date:  2011-04-20       Impact factor: 6.318

2.  Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

Authors:  Tyler F Beck; Danielle Veenma; Oleg A Shchelochkov; Zhiyin Yu; Bum Jun Kim; Hitisha P Zaveri; Yolande van Bever; Sunju Choi; Hannie Douben; Terry K Bertin; Pragna I Patel; Brendan Lee; Dick Tibboel; Annelies de Klein; David W Stockton; Monica J Justice; Daryl A Scott
Journal:  Hum Mol Genet       Date:  2012-12-05       Impact factor: 6.150

3.  Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.

Authors:  Jared Nathanson; Daniel T Swarr; Amihood Singer; Mochi Liu; Amy Chinn; Wendy Jones; Jane Hurst; Nahla Khalek; Elaine Zackai; Anne Slavotinek
Journal:  Am J Med Genet A       Date:  2013-02-08       Impact factor: 2.802

4.  Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3.

Authors:  Tyler F Beck; Oleg A Shchelochkov; Zhiyin Yu; Bum Jun Kim; Andrés Hernández-García; Hitisha P Zaveri; Colin Bishop; Paul A Overbeek; David W Stockton; Monica J Justice; Daryl A Scott
Journal:  PLoS One       Date:  2013-03-11       Impact factor: 3.240

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.