Associated Papers
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Panel-Based Genetic Testing in a Consecutive Series of Individuals with Inherited Retinal Diseases in Australia: Identifying Predictors of a Diagnosis.
Britten-Jones AC et al.
Genes, 2025
Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa: Molecular Genetics and Clinical Characteristics.
Hwang S et al.
American Journal of Ophthalmology, 2025
The Exponential Constriction Model of the Ellipsoid Zone in Taiwanese Individuals With RPGR-Related X-Linked Retinitis Pigmentosa.
Huang YH et al.
Investigative Ophthalmology & Visual Science, 2025
7 Tesla MRI Reveals Brain Structural Abnormalities and Neural Plasticity in RPGR-Related Retinitis Pigmentosa.
Nowomiejska K et al.
Journal of Clinical Medicine, 2025
Retinal Disease Variability in Female Carriers of RPGR Variants Associated with Retinitis Pigmentosa: Clinical and Genetic Parameters.
Gocuk SA et al.
Genes, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.
Vaché C et al.
European Journal of Human Genetics : Ejhg, 2025
Measuring X-Chromosome inactivation skew for X-linked diseases with adaptive nanopore sequencing.
Gocuk SA et al.
Genome Research, 2024
MANAGEMENT OF A UNIQUE CASE OF COATS'-LIKE X-LINKED RETINITIS PIGMENTOSA ASSOCIATED WITH AN RPGR VARIANT IN THE ERA OF ANTI-VASCULAR ENDOTHELIUM GROWTH FACTOR.
Pederzolli M et al.
Retinal Cases & Brief Reports, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Identification of the RPGR Gene Pathogenic Variants in a Cohort of Polish Male Patients with Retinitis Pigmentosa Phenotype.
Nowomiejska K et al.
Genes, 2023
Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa.
Kelbsch C et al.
Investigative Ophthalmology & Visual Science, 2023
Cone Structure and Function in RPGR- and USH2A-Associated Retinal Degeneration.
Micevych PS et al.
American Journal of Ophthalmology, 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
Microperimetry and Adaptive Optics Imaging Reveal Localized Functional and Structural Changes in Asymptomatic RPGR Mutation Carriers.
Roshandel D et al.
Investigative Ophthalmology & Visual Science, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Mutation Analysis of the RPGR Gene in a Chinese Cohort.
Liu HL et al.
Frontiers in Genetics, 2022
Analysis of RPGR gene mutations in 41 Chinese families affected by X-linked inherited retinal dystrophy.
Liu X et al.
Frontiers in Genetics, 2022
Genotype-Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review.
Yang J et al.
Frontiers in Genetics, 2021
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
Birtel J et al.
Plos One, 2018
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
Charng J et al.
Human Molecular Genetics, 2016
Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing.
Li J et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.
Churchill JD et al.
Investigative Ophthalmology & Visual Science, 2013
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Branham K et al.
Investigative Ophthalmology & Visual Science, 2012
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