Literature DB >> 9056564

Familial exudative vitreoretinopathy: further evidence for genetic heterogeneity.

B S Shastry, M T Trese.   

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Year:  1997        PMID： 9056564     DOI： 10.1002/(sici)1096-8628(19970317)69:2<217::aid-ajmg19>3.0.co;2-o

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  10 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.  25-gauge lens-sparing vitrectomy with dissection of retrolental adhesions on the peripheral retina for familial exudative vitreoretinopathy in infants.

Authors:  Jin Ma; Yin Hu; Lin Lu; Xiaohu Ding
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2018-06-16       Impact factor: 3.117

3.  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

4.  Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree.

Authors:  M A Bamashmus; L M Downey; C F Inglehearn; S R Gupta; D C Mansfield
Journal:  Br J Ophthalmol       Date:  2000-04       Impact factor: 4.638

5.  Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.

Authors:  Minghui Qin; Hiroyuki Kondo; Tomoko Tahira; Kenshi Hayashi
Journal:  Hum Genet       Date:  2007-10-23       Impact factor: 4.132

6.  Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.

Authors:  H Kondo; H Hayashi; K Oshima; T Tahira; K Hayashi
Journal:  Br J Ophthalmol       Date:  2003-10       Impact factor: 4.638

7.  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

8.  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

9.  Genetic screening of Wnt signaling factors in advanced retinopathy of prematurity.

Authors:  Miki Hiraoka; Hiroshi Takahashi; Hideo Orimo; Miina Hiraoka; Tsutomu Ogata; Noriyuki Azuma
Journal:  Mol Vis       Date:  2010-12-05       Impact factor: 2.367

10.  Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy.

Authors:  Giancarlo Iarossi; Matteo Bertelli; Paolo Enrico Maltese; Elena Gusson; Giorgio Marchini; Alice Bruson; Sabrina Benedetti; Sabrina Volpetti; Gino Catena; Luca Buzzonetti; Lucia Ziccardi
Journal:  J Ophthalmol       Date:  2017-07-05       Impact factor: 1.909
  10 in total

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