Associated Papers
Divergent Manifestations in Biallelic Versus Monoallelic Variants of RP1-, BEST1-, and PROM1-Associated Retinal Disorders.
Kong MD et al.
International Journal of Molecular Sciences, 2025
Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.
Yavas C et al.
Clinical Genetics, 2025
OUTER RETINAL MICROCAVITATIONS IN RETINITIS PIGMENTOSA : A Novel Optical Coherence Tomography Finding Common in RP1 -Related Retinopathy.
Dimopoulos IS et al.
Retina (philadelphia, Pa.), 2024
Retinitis pigmentosa-1 due to an RP1 mutation in a consanguineous Iranian family: Report of a novel mutation.
Neissi M et al.
Clinical Case Reports, 2024
Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy.
Buckley TMW et al.
American Journal of Ophthalmology Case Reports, 2022
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
Retinitis Pigmentosa Due to Rp1 Biallelic Variants.
Silva RS et al.
Scientific Reports, 2020
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Eisenberger T et al.
Plos One, 2013
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