Associated Papers
Genotype-Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes.
Yaylacioglu Tuncay F et al.
Investigative Ophthalmology & Visual Science, 2025
Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/β-Catenin Pathway Activation.
Liu M et al.
Investigative Ophthalmology & Visual Science, 2024
Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review.
Wawrzynski J et al.
Frontiers in Genetics, 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
Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy.
Tang M et al.
Investigative Ophthalmology & Visual Science, 2017
Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy.
Iarossi G et al.
Journal of Ophthalmology, 2017
Corrigendum to "Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy".
Iarossi G et al.
Journal of Ophthalmology, 2017
A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy.
Liu HY et al.
Journal of the Chinese Medical Association : Jcma, 2016
Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR.
Musada GR et al.
Molecular Vision, 2016
[Analysis of the NDP gene in a Chinese family with X-linked recessive Norrie disease].
Mei L et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2015
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 molecular basis of human retinal and vitreoretinal diseases.
Berger W et al.
Progress in Retinal and Eye Research, 2010
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
Nikopoulos K et al.
Human Mutation, 2010
Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy.
Pelcastre EL et al.
Clinical & Experimental Ophthalmology, 2010
SNPs: impact on gene function and phenotype.
Shastry BS
Methods in Molecular Biology (clifton, N.j.), 2009
Molecular analysis of the NDP gene in two families with Norrie disease.
Rivera-Vega MR et al.
Acta Ophthalmologica Scandinavica, 2005
Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.
Xu Q et al.
Cell, 2004
Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix.
Perez-Vilar J et al.
The Journal of Biological Chemistry, 1997
Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively.
Walker JL et al.
Human Mutation, 1997
Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.
Shastry BS et al.
Human Mutation, 1997
Peripheral retinopathy in offspring of carriers of Norrie disease gene mutations. Possible transplacental effect of abnormal Norrin.
Mintz-Hittner HA et al.
Ophthalmology, 1996
X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein.
Johnson K et al.
Clinical Genetics, 1996
Characterization and mapping of the mouse NDP (Norrie disease) locus (Ndp).
Battinelli EM et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 1996
An animal model for Norrie disease (ND): gene targeting of the mouse ND gene.
Berger W et al.
Human Molecular Genetics, 1996
Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.
Meindl A et al.
Human Molecular Genetics, 1995
Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families.
Fuentes JJ et al.
Human Molecular Genetics, 1993
Differential diagnosis of Norrie disease and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation.
Wawrocka A et al.
Klinika Oczna, 0