Associated Papers
Expanding the clinical and genetic spectrum of RHO-associated retinitis pigmentosa.
Amaral RAS et al.
Experimental Biology and Medicine (maywood, N.j.), 2026
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.
Méndez-Vidal C et al.
Journal of Translational Medicine, 2025
Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.
Holtes LK et al.
Progress in Retinal and Eye Research, 2025
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
Trastulli G et al.
Genes, 2024
Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa.
Zhuang J et al.
Ophthalmic Genetics, 2024
Genotype and phenotype characteristics of RHO-associated retinitis pigmentosa in the Japanese population.
Sakai D et al.
Japanese Journal of Ophthalmology, 2023
Genetic analysis of patients with nonsyndromic and syndromic retinitis pigmentosa in Puerto Rico: a genetic legacy.
Vargas JG et al.
Ophthalmic Genetics, 2022
CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.
Kaukonen M et al.
Genes, 2022
Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model.
Patrizi C et al.
American Journal of Human Genetics, 2021
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands.
Zhang Q et al.
Scientific Reports, 2016
Nonsense mutations in the rhodopsin gene that give rise to mild phenotypes trigger mRNA degradation in human cells by nonsense-mediated decay.
Roman-Sanchez R et al.
Experimental Eye Research, 2016
In silico study of the human rhodopsin and meta rhodopsin II/S-arrestin complexes: impact of single point mutations related to retina degenerative diseases.
Mokarzel-Falcón L et al.
Proteins, 2008
[Recent progress in molecular genetics and gene therapy for retinitis pigmentosa].
Wang DY et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2005
Gene mutations in retinitis pigmentosa and their clinical implications.
Wang DY et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2005
A novel null mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosa.
Sánchez B et al.
Human Mutation, 1996
Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa.
Borrego S et al.
Human Mutation, 1996