Associated Papers
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.
Abu Elasal M et al.
Genes, 2024
39062705 (PubMed )
Supplement: genes-15-00926-s001.zip › Table_S1-revision.xlsx › Tabble_S1
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
36819107 (PubMed )
Supplement: Table3.XLSX › Sheet1
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1
Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due to RP1 Truncations: Confirmation, Refinement, and Questions.
Wang J et al.
Frontiers in Cell and Developmental Biology, 2021
33681214 (PubMed )
Supplement: Table_4.XLSX › Sheet1
Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.
Kabir F et al.
Molecular Vision, 2016
RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.
Audo I et al.
Human Mutation, 2012
Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.
Chen LJ et al.
Investigative Ophthalmology & Visual Science, 2010
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
Sullivan LS et al.
Investigative Ophthalmology & Visual Science, 2006
Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
Berson EL et al.
Investigative Ophthalmology & Visual Science, 2001
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
Sohocki MM et al.
Human Mutation, 2001
A molecular case report of autosomal dominant retinitis pigmentosa: RP1/RHO sequence variants in a Turkish family.
Nalbantoglu SM et al.
Omics : a Journal of Integrative Biology, 0
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