Literature DB >> 28863275

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy.

James A Poulter, Manir Ali, David F Gilmour, Aine Rice, Hiroyuki Kondo, Kenshi Hayashi, David A Mackey, Lisa S Kearns, Jonathan B Ruddle, Jamie E Craig, Eric A Pierce, Louise M Downey, Moin D Mohamed, Alexander F Markham, Chris F Inglehearn, Carmel Toomes.   

Abstract

Entities:  

Year:  2016        PMID： 28863275      PMCID： PMC4800049          DOI： 10.1016/j.ajhg.2016.02.017

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  5 in total

1.  Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/β-Catenin Signaling Pathway.

Authors:  Shuai Han; Junhui Sun; Liwei Yang; Ming Qi
Journal:  Biomed Res Int       Date:  2020-04-27       Impact factor: 3.411

2.  Five novel copy number variations detected in patients with familial exudative vitreoretinopathy.

Authors:  Jia Luo; Jing Li; Xiang Zhang; Jia-Kai Li; Hao-Jie Chen; Pei-Quan Zhao; Ping Fei
Journal:  Mol Vis       Date:  2021-11-20       Impact factor: 2.367

3.  Mutation spectrum in a cohort with familial exudative vitreoretinopathy.

Authors:  Ning Qu; Wei Li; Dong-Ming Han; Jia-Yu Gao; Zheng-Tao Yang; Li Jiang; Tian-Bin Liu; Yan-Xian Chen; Xiao-Sen Jiang; Liang Zhou; Ji-Hong Wu; Xin Huang
Journal:  Mol Genet Genomic Med       Date:  2022-07-25       Impact factor: 2.473

4.  Whole-Gene Deletions of FZD4 Cause Familial Exudative Vitreoretinopathy.

Authors:  Li Huang; Jinglin Lu; Linyan Zhang; Zhaotian Zhang; Limei Sun; Songshan Li; Ting Zhang; Limei Chen; Liming Cao; Xiaoyan Ding
Journal:  Genes (Basel)       Date:  2021-06-27       Impact factor: 4.096

5.  Identification of a novel mutation in KIF11 with functional analysis in a cohort of 516 familial patients with exudative vitreoretinopathy.

Authors:  Kezhou Wang; Xiang Zhang; Tian Tian; Peiquan Zhao
Journal:  Mol Vis       Date:  2021-09-01       Impact factor: 2.367
  5 in total

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