Associated Papers
Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.
Zhang L et al.
Investigative Ophthalmology & Visual Science, 2025
41117592 (PubMed )
Supplement: iovs-66-13-32_s002.xlsx › Sheet1
Clinical and molecular findings in children with retinitis pigmentosa.
Li C et al.
Ophthalmic Genetics, 2024
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.
Jayasundera T et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2010
A population-based epidemiological and genetic study of X-linked retinitis pigmentosa.
Prokisch H et al.
Investigative Ophthalmology & Visual Science, 2007
An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene.
Dandekar SS et al.
The British Journal of Ophthalmology, 2004
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.
Miano MG et al.
Human Mutation, 2001
Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein.
Schwahn U et al.
Human Molecular Genetics, 2001
Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2).
Rosenberg T et al.
Ophthalmic Genetics, 1999
Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study.
Hardcastle AJ et al.
American Journal of Human Genetics, 1999
Positional cloning of the gene for X-linked retinitis pigmentosa 2.
Schwahn U et al.
Nature Genetics, 1998
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