Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy

Phenotypic Overlap Between Familial Exudative Vitreoretinopathy and Microcephaly, Lymphedema, and Chorioretinal Dysplasia Caused byKIF11Mutations

(2014) Johane M. Robitaille et al.   JAMA Ophthalmology

Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation inTSPAN12in a Cystic Fibrosis Infant

(2013) Marco Savarese et al.   OPHTHALMIC GENETICS

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

(2013) R. W. J. Collin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Wnt/β-Catenin Signaling and Disease

(2012) Hans Clevers et al.   CELL

Mutations in the TSPAN12 Gene in Japanese Patients with Familial Exudative Vitreoretinopathy

(2011) Hiroyuki Kondo et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy

(2010) Konstantinos Nikopoulos et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

(2010) James A. Poulter et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel Frizzled-4 Gene Mutations in Chinese Patients With Familial Exudative Vitreoretinopathy

(2010) Li-Yun Jia   ARCHIVES OF OPHTHALMOLOGY

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

(2010) Konstantinos Nikopoulos et al.   HUMAN MUTATION

An Essential Role of the Cysteine-rich Domain of FZD4 in Norrin/Wnt Signaling and Familial Exudative Vitreoretinopathy

(2010) Kang Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical Presentation and Genetic Correlation of Patients With Mutations Affecting the FZD4 Gene

(2009) Kimberly A. Drenser   ARCHIVES OF OPHTHALMOLOGY

TSPAN12 Regulates Retinal Vascular Development by Promoting Norrin- but Not Wnt-Induced FZD4/β-Catenin Signaling

(2009) Harald J. Junge et al.   CELL

Norrin, Frizzled-4, and Lrp5 Signaling in Endothelial Cells Controls a Genetic Program for Retinal Vascularization

(2009) Xin Ye et al.   CELL