Literature DB >> 4058870

Dominant exudative vitreoretinopathy.

C E van Nouhuys.   

Abstract

Eleven Dutch families with dominant exudative vitreoretinopathy (DEVR) were studied. The findings in 81 affected members of these families are listed. DEVR is probably based on a late developmental disorder of the foetal retinal vascular system. This disease has changed our concepts of the pathogenesis of congenital retinal folds. We could not confirm the presence of platelet aggregation defects in DEVR.

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Year:  1985        PMID： 4058870     DOI： 10.3109/13816818509007853

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN： 0167-6784


  4 in total

1.  Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

Authors:  Konstantinos Nikopoulos; Christian Gilissen; Alexander Hoischen; C Erik van Nouhuys; F Nienke Boonstra; Ellen A W Blokland; Peer Arts; Nienke Wieskamp; Tim M Strom; Carmen Ayuso; Mauk A D Tilanus; Sanne Bouwhuis; Arijit Mukhopadhyay; Hans Scheffer; Lies H Hoefsloot; Joris A Veltman; Frans P M Cremers; Rob W J Collin
Journal:  Am J Hum Genet       Date:  2010-02-12       Impact factor: 11.025

2.  ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.

Authors:  Rob W J Collin; Konstantinos Nikopoulos; Margo Dona; Christian Gilissen; Alexander Hoischen; F Nienke Boonstra; James A Poulter; Hiroyuki Kondo; Wolfgang Berger; Carmel Toomes; Tomoko Tahira; Lucas R Mohn; Ellen A Blokland; Lisette Hetterschijt; Manir Ali; Johanne M Groothuismink; Lonneke Duijkers; Chris F Inglehearn; Lea Sollfrank; Tim M Strom; Eiichi Uchio; C Erik van Nouhuys; Hannie Kremer; Joris A Veltman; Erwin van Wijk; Frans P M Cremers
Journal:  Proc Natl Acad Sci U S A       Date:  2013-05-28       Impact factor: 11.205

3.  Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes.

Authors:  Huiqin Yang; Xueshan Xiao; Shiqiang Li; Guiying Mai; Qingjiong Zhang
Journal:  Mol Vis       Date:  2011-04-29       Impact factor: 2.367

4.  Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy.

Authors:  Ping Fei; Qi Zhang; Luling Huang; Yu Xu; Xiong Zhu; Zhengfu Tai; Bo Gong; Shi Ma; Quanyao Yao; Jing Li; Peiquan Zhao; Zhenglin Yang
Journal:  Mol Vis       Date:  2014-03-29       Impact factor: 2.367
  4 in total

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