Associated Papers
Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.
van der Ende S et al.
Investigative Ophthalmology & Visual Science, 2025
Familial exudative vitreoretinopathy associated with retinal astrocytic hamartoma.
Fan J et al.
American Journal of Ophthalmology Case Reports, 2022
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
Spectrum of Variants in 389 Chinese Probands With Familial Exudative Vitreoretinopathy.
Li JK et al.
Investigative Ophthalmology & Visual Science, 2018
Risk allele of the FZD4 gene for familial exudative vitreoretinopathy.
Kondo H et al.
Ophthalmic Genetics, 2018
Norrin-induced Frizzled4 endocytosis and endo-lysosomal trafficking control retinal angiogenesis and barrier function.
Zhang C et al.
Nature Communications, 2017
Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients.
Salvo J et al.
Investigative Ophthalmology & Visual Science, 2015
The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease.
Robitaille JM et al.
The British Journal of Ophthalmology, 2011
An essential role of the cysteine-rich domain of FZD4 in Norrin/Wnt signaling and familial exudative vitreoretinopathy.
Zhang K et al.
The Journal of Biological Chemistry, 2011
Novel frizzled-4 gene mutations in chinese patients with familial exudative vitreoretinopathy.
Jia LY et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2010
Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.
Boonstra FN et al.
Investigative Ophthalmology & Visual Science, 2009
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