Literature DB >> 11076059

Linkage and candidate gene analysis of autosomal-dominant familial exudative vitreoretinopathy.

B S Shastry, J F Hejtmancik, M Hiraoka, N Ibaraki, Y Okubo, A Okubo, D P Han, M T Trese.   

Abstract

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Year:  2000        PMID： 11076059     DOI： 10.1034/j.1399-0004.2000.580412.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  4 in total

1.  Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

Authors:  Xiaodong Jiao; Valerio Ventruto; Michael T Trese; Barkur S Shastry; J Fielding Hejtmancik
Journal:  Am J Hum Genet       Date:  2004-09-02       Impact factor: 11.025

2.  Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree.

Authors:  C Toomes; L M Downey; H M Bottomley; H A Mintz-Hittner; C F Inglehearn
Journal:  Br J Ophthalmol       Date:  2005-02       Impact factor: 4.638

3.  Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

Authors:  Carmel Toomes; Helen M Bottomley; Richard M Jackson; Katherine V Towns; Sheila Scott; David A Mackey; Jamie E Craig; Li Jiang; Zhenglin Yang; Richard Trembath; Geoffrey Woodruff; Cheryl Y Gregory-Evans; Kevin Gregory-Evans; Michael J Parker; Graeme C M Black; Louise M Downey; Kang Zhang; Chris F Inglehearn
Journal:  Am J Hum Genet       Date:  2004-03-11       Impact factor: 11.025

4.  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 in total

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