Associated Papers
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM2_ESM.xlsx › Feuil_1
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
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.
Del-Toro N et al.
Nature Communications, 2019
30602777 (PubMed )
Supplement: 41467_2018_7709_MOESM6_ESM.xlsx › Supplementary_data_3
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
[Databases for mutations in human diseases].
Minoshima S et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2010
KMeyeDB: a graphical database of mutations in genes that cause eye diseases.
Kawamura T et al.
Human Mutation, 2010
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
Sundaresan P et al.
Molecular Vision, 2009
RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.
Koenekoop RK
Ophthalmic Genetics, 2005
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Hanein S et al.
Human Mutation, 2004
RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons.
Castagnet P et al.
Human Molecular Genetics, 2003
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
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