Associated Papers
Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.
Zhang L et al.
Investigative Ophthalmology & Visual Science, 2025
Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.
He Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
An analysis of LRP5 gene frequencies in infants with familial exudative vitreoretinopathy in Chongqing and Urumqi.
Cen C et al.
Medicine, 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
LONG-TERM CLINICAL OUTCOMES AND GENOTYPE-PHENOTYPE CORRELATION IN FAMILIAL EXUDATIVE VITREORETINOPATHY IN A TERTIARY REFERRAL CENTER.
Tsai ASH et al.
Retina (philadelphia, Pa.), 2023
18p Deletion Syndrome With Concurrent Frizzled-4 Mutation: Surgical Management of Bilateral Stage 5 Traction Retinal Detachment.
Wakabayashi T et al.
Ophthalmic Surgery, Lasers & Imaging Retina, 2023
Mutation spectrum in a cohort with familial exudative vitreoretinopathy.
Qu N et al.
Molecular Genetics & Genomic Medicine, 2022
FZD4 in a Large Chinese Population With Familial Exudative Vitreoretinopathy: Molecular Characteristics and Clinical Manifestations.
Lu J et al.
Investigative Ophthalmology & Visual Science, 2022
Decrease of FZD4 exon 1 methylation in probands from FZD4-associated FEVR family of phenotypic heterogeneity.
Liu M et al.
Frontiers in Medicine, 2022
Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.
Moon D et al.
Genes, 2021
Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.
Tao T et al.
Investigative Ophthalmology & Visual Science, 2021
Identification of novel variants in the FZD4 gene associated with familial exudative vitreoretinopathy in Chinese families.
Xu H et al.
Clinical & Experimental Ophthalmology, 2020
Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape.
Milhem RM et al.
Molecular Medicine (cambridge, Mass.), 2019
Molecular evolutionary and structural analysis of familial exudative vitreoretinopathy associated FZD4 gene.
Seemab S et al.
Bmc Evolutionary Biology, 2019
Bilateral congenital macular coloboma and cataract: A case report.
Zhang C et al.
Medicine, 2019
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.
Wang P et al.
Translational Vision Science & Technology, 2019
Variable reduction in Norrin signaling activity caused by novel mutations in FZD4 identified in patients with familial exudative vitreoretinopathy.
Tian T et al.
Molecular Vision, 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
Functional dissection of the N-terminal extracellular domains of Frizzled 6 reveals their roles for receptor localization and Dishevelled recruitment.
Valnohova J et al.
The Journal of Biological Chemistry, 2018
Spectrum of Variants in 389 Chinese Probands With Familial Exudative Vitreoretinopathy.
Li JK et al.
Investigative Ophthalmology & Visual Science, 2018
The characteristics of digenic familial exudative vitreoretinopathy.
Li Y et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2018
The genetics of retinopathy of prematurity: a model for neovascular retinal disease.
Swan R et al.
Ophthalmology. Retina, 2018
Risk allele of the FZD4 gene for familial exudative vitreoretinopathy.
Kondo H et al.
Ophthalmic Genetics, 2018
Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy.
Fei P et al.
Scientific Reports, 2015
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
Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.
Xu Y et al.
Molecular Vision, 2014
Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity.
Kondo H et al.
Molecular Vision, 2013
Novel frizzled-4 gene mutations in chinese patients with familial exudative vitreoretinopathy.
Jia LY et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2010
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
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
Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R).
Omoto S et al.
Ophthalmic Genetics, 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