Associated Papers
Identifying two pathogenic variants in a patient with pigmented paravenous retinochoroidal atrophy.
Liu Z et al.
Open Life Sciences, 2023
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
Bryant L et al.
Clinical Ophthalmology (auckland, N.z.), 2018
Assessing risk for Mendelian disorders in a Bronx population.
diSibio G et al.
Molecular Genetics & Genomic Medicine, 2017
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
C2 domains as protein-protein interaction modules in the ciliary transition zone.
Remans K et al.
Cell Reports, 2014
Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons.
Patil H et al.
Cell Death & Disease, 2012
Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms.
Patil H et al.
Biology Open, 2012
Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Booij JC et al.
Ophthalmology, 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
[Databases for mutations in human diseases].
Minoshima S et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2010
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Walia S et al.
Ophthalmology, 2010
KMeyeDB: a graphical database of mutations in genes that cause eye diseases.
Kawamura T et al.
Human Mutation, 2010
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
Vallespin E et al.
Investigative Ophthalmology & Visual Science, 2007
RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.
Koenekoop RK
Ophthalmic Genetics, 2005
Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.
Booij JC et al.
Journal of Medical Genetics, 2005
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
Zernant J et al.
Investigative Ophthalmology & Visual Science, 2005
Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis.
Lu X et al.
Human Molecular 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