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
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
Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients.
Musada GR et al.
Bmc Ophthalmology, 2016
Frizzled-4 Variations Associated with Retinopathy and Intrauterine Growth Retardation: A Potential Marker for Prematurity and Retinopathy.
Dailey WA et al.
Ophthalmology, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
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
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
SNPs in disease gene mapping, medicinal drug development and evolution.
Shastry BS
Journal of Human Genetics, 2007
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
Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity.
MacDonald ML et al.
Clinical Genetics, 2005
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
Toomes C et al.
Investigative Ophthalmology & Visual Science, 2004
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