Associated Papers
Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome.
Le V et al.
Cells, 2023
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
Unravelling the genetics of inherited retinal dystrophies: Past, present and future.
Broadgate S et al.
Progress in Retinal and Eye Research, 2017
TSPAN12 Is a Norrin Co-receptor that Amplifies Frizzled4 Ligand Selectivity and Signaling.
Lai MB et al.
Cell Reports, 2017
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.
Xu Y et al.
Molecular Vision, 2014
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).
Poulter JA et al.
Investigative Ophthalmology & Visual Science, 2012
Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy.
Kondo H et al.
American Journal of Ophthalmology, 2011
Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes.
Yang H et al.
Molecular Vision, 2011
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.
Nikopoulos K et al.
American Journal of Human Genetics, 2010
The Presence of Wnt Signaling Mutations in Patients With Diabetic Retinopathy.
Moinuddin O et al.
Journal of Vitreoretinal Diseases, 0
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