Associated Papers
Clinical and molecular findings in children with retinitis pigmentosa.
Li C et al.
Ophthalmic Genetics, 2024
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
39189993 (PubMed )
Supplement: iovs-65-10-40_s001.xlsx › Sheet1
Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients.
Koyanagi Y et al.
Investigative Ophthalmology & Visual Science, 2020
Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.
Dockery A et al.
Genes, 2017
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Haer-Wigman L et al.
European Journal of Human Genetics : Ejhg, 2017
28224992 (PubMed )
Supplement: ejhg20179x6.xlsx › Supplemental_table_4
Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa.
Jiang J et al.
Scientific Reports, 2017
Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.
Zahid S et al.
Jama Ophthalmology, 2013
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Branham K et al.
Investigative Ophthalmology & Visual Science, 2012
Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.
Beltran WA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.
Neidhardt J et al.
Molecular Vision, 2008
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.
Cideciyan AV et al.
Human Mutation, 2007
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