Associated Papers
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.
Maggi J et al.
International Journal of Molecular Sciences, 2024
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
A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes.
Cicerone AP et al.
Genes, 2022
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
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
The genetics of retinopathy of prematurity: a model for neovascular retinal disease.
Swan R et al.
Ophthalmology. Retina, 2018
Genetic association of single nucleotide polymorphisms of FZD4 and BDNF genes with retinopathy of prematurity.
Lasabova Z et al.
Ophthalmic Genetics, 2018
Mutation spectrum of NDP, FZD4 and TSPAN12 genes in Indian patients with retinopathy of prematurity.
Rathi S et al.
The British Journal of Ophthalmology, 2018
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
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
Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity.
Kondo H et al.
Molecular Vision, 2013
The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease.
Robitaille JM et al.
The British Journal of Ophthalmology, 2011
Analysis of candidate genes for macular telangiectasia type 2.
Parmalee NL et al.
Molecular Vision, 2010
Severe retinopathy of prematurity associated with FZD4 mutations.
Ells A et al.
Ophthalmic Genetics, 2010
Clinical presentation and genetic correlation of patients with mutations affecting the FZD4 gene.
Drenser KA et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2009
Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.
Boonstra FN et al.
Investigative Ophthalmology & Visual Science, 2009
Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement.
Li P et al.
American Journal of Medical Genetics. Part A, 2006
Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy.
Nallathambi J et al.
Molecular Vision, 2006
Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity.
MacDonald ML et al.
Clinical Genetics, 2005
Detection of FZD4, LRP5 and TSPAN12 Genes Variants in Malay Premature Babies with Retinopathy of Prematurity.
Mohd Khair SZN et al.
Journal of Ophthalmic & Vision Research, 0
Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes.
Kondo H et al.
Ophthalmology Science, 0