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
38517429 (PubMed )
Supplement: iovs-65-3-31_s001.pdf
Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review.
Wawrzynski J et al.
Frontiers in Genetics, 2022
Novel Pathogenic Variant in the Cys110 Residue: A Genotype-Phenotype Report of a Patient with Norrie Disease.
Garcha J et al.
Journal of Pediatric Genetics, 2020
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
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
Retinopathy of prematurity: mutations in the Norrie disease gene and the risk of progression to advanced stages.
Haider MZ et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2001
Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy.
Torrente I et al.
American Journal of Medical Genetics, 1997
A C597-->A polymorphism in the Norrie disease gene is associated with advanced retinopathy of prematurity in premature Kuwaiti infants.
Haider MZ et al.
Journal of Biomedical Science, 0
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