Associated Papers
Genotype-Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes.
Yaylacioglu Tuncay F et al.
Investigative Ophthalmology & Visual Science, 2025
Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations.
Dai E et al.
Investigative Ophthalmology & Visual Science, 2024
Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome.
Le V et al.
Cells, 2023
Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy.
Mao J et al.
Annals of Medicine, 2022
Characterization of a novel pathogenic variation c.1237T>G in the FZD4 gene presenting new inheritance from an Iranian individual suffering vitreoretinopathy.
Zamani M et al.
Intractable & Rare Diseases Research, 2020
Molecular evolutionary and structural analysis of familial exudative vitreoretinopathy associated FZD4 gene.
Seemab S et al.
Bmc Evolutionary Biology, 2019
Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums.
Xiao H et al.
Journal of Ophthalmology, 2019
Variable Familial Exudative Vitreoretinopathy in a family harbouring variants in both FZD4 and TSPAN12.
Schatz P et al.
Acta Ophthalmologica, 2017
Frizzled-4 Variations Associated with Retinopathy and Intrauterine Growth Retardation: A Potential Marker for Prematurity and Retinopathy.
Dailey WA et al.
Ophthalmology, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Identification of the cellular mechanisms that modulate trafficking of frizzled family receptor 4 (FZD4) missense mutants associated with familial exudative vitreoretinopathy.
Milhem RM et al.
Investigative Ophthalmology & Visual Science, 2014
Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy.
Fei P et al.
Molecular Vision, 2014
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
Nikopoulos K et al.
Human Mutation, 2010
Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees.
Robitaille JM et al.
Ophthalmic Genetics, 2009
SNPs: impact on gene function and phenotype.
Shastry BS
Methods in Molecular Biology (clifton, N.j.), 2009
Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.
Qin M et al.
Human Genetics, 2008
Severe form of familial exudative vitreoretinopathy caused by homozygous R417Q mutation in frizzled-4 gene.
Kondo H et al.
Ophthalmic Genetics, 2007
Genetic evidence that Drosophila frizzled controls planar cell polarity and Armadillo signaling by a common mechanism.
Povelones M et al.
Genetics, 2005
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.
Qin M et al.
Human Mutation, 2005
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
Toomes C et al.
Investigative Ophthalmology & Visual Science, 2004
Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.
Kondo H et al.
The British Journal of Ophthalmology, 2003
Complex genetics of familial exudative vitreoretinopathy and related pediatric retinal detachments.
Kondo H
Taiwan Journal of Ophthalmology, 0
Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes.
Kondo H et al.
Ophthalmology Science, 0