Associated Papers
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
Kim YJ et al.
Genes, 2021
33946315 (PubMed )
Supplement: genes-12-00675-s001.zip › genes-1171954-supplementary.pdf
Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients.
Koyanagi Y et al.
Investigative Ophthalmology & Visual Science, 2020
Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late-onset high myopia based on exome sequencing.
Zhou L et al.
Experimental Eye Research, 2018
Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.
Carrigan M et al.
Scientific Reports, 2016
Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.
Zahid S et al.
Jama Ophthalmology, 2013
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
Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations.
Kuruvilla SE et al.
Clinical & Experimental Ophthalmology, 0
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