Associated Papers
Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes.
Basdemirci M et al.
Molecular Syndromology, 2024
Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients.
Beryozkin A et al.
Frontiers in Cell and Developmental Biology, 2021
34722527 (PubMed )
Supplement: Table_2.XLSX › ______1
Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.
Huang H et al.
Oncotarget, 2017
A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis.
Suzuki T et al.
Japanese Journal of Ophthalmology, 2014
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.
Fernández-Martínez L et al.
European Journal of Human Genetics : Ejhg, 2011
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Coppieters F et al.
Human Mutation, 2010
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Walia S et al.
Ophthalmology, 2010
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Khanna H et al.
Nature Genetics, 2009
RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.
Koenekoop RK
Ophthalmic Genetics, 2005
Clinical phenotypes in carriers of Leber congenital amaurosis mutations.
Galvin JA et al.
Ophthalmology, 2005
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.
Gerber S et al.
European Journal of Human Genetics : Ejhg, 2001
Evaluation of genotype-phenotype associations in leber congenital amaurosis.
Galvin JA et al.
Retina (philadelphia, Pa.), 0
Leber Congenital Amaurosis With Coats-Like Reaction and 3 Novel Sequence Variants: A Short Report.
Tavakoli M et al.
Journal of Vitreoretinal Diseases, 0
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