Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Early findings from a natural history study of patients with the pathogenic p.Gly208Asp PRPH2 variant associated with retinal dystrophy.
AlAshwal SM et al.
Retina (philadelphia, Pa.), 2025
Bilateral Sector Macular Dystrophy Associated with PRPH2 Variant c.623G>A (p.Gly208Asp).
Kellner S et al.
Journal of Clinical Medicine, 2025
PRPH2-ASSOCIATED RETINAL DISEASES: A SYSTEMATIC REVIEW OF PHENOTYPIC FINDINGS.
AlAshwal SM et al.
American Journal of Ophthalmology, 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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.
Heath Jeffery RC et al.
Investigative Ophthalmology & Visual Science, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Fernández-Caballero L et al.
International Journal of Molecular Sciences, 2024
Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy.
Soucy M et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2023
New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.
Wang Y et al.
International Journal of Molecular Sciences, 2023
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.
Mc Clinton B et al.
Genes, 2023
Longitudinal Analysis of Functional and Structural Outcome Measures in PRPH2-Associated Retinal Dystrophy.
Heath Jeffery RC et al.
Ophthalmology. Retina, 2023
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
Multimodal Study of PRPH2 Gene-Related Retinal Phenotypes.
Antonelli G et al.
Diagnostics (basel, Switzerland), 2022
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.
Peeters MHCA et al.
Human Mutation, 2021
Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.
Oishi A et al.
Genes, 2021
Stargardt misdiagnosis: How ocular genetics helps.
Ibanez MB et al.
American Journal of Medical Genetics. Part A, 2021
Updating the Genetic Landscape of Inherited Retinal Dystrophies.
García Bohórquez B et al.
Frontiers in Cell and Developmental Biology, 2021
Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.
Reeves MJ et al.
Human Mutation, 2020
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.
Martin-Merida I et al.
Investigative Ophthalmology & Visual Science, 2018
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Birtel J et al.
Scientific Reports, 2018
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Gibson KM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.
Becirovic E et al.
Plos Genetics, 2016
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.
Manes G et al.
American Journal of Ophthalmology, 2015
Central areolar choroidal dystrophy (CACD) and age-related macular degeneration (AMD): differentiating characteristics in multimodal imaging.
Smailhodzic D et al.
Investigative Ophthalmology & Visual Science, 2011
Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene.
Duncan JL et al.
Investigative Ophthalmology & Visual Science, 2011
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.
Gamundi MJ et al.
Molecular Vision, 2007
A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy.
Pajic B et al.
Retina (philadelphia, Pa.), 2006
[Phenotypic variation in a family affected by autosomal dominant retinal dystrophy caused by the Gly208Asp mutation in the RDS peripherin gene].
Trujillo Tiebas MJ et al.
Medicina Clinica, 2002
Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease.
Iannaccone A
Documenta Ophthalmologica. Advances in Ophthalmology, 2001
Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families.
Trujillo MJ et al.
Human Mutation, 2001
Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147. Online.
Trujillo MJ et al.
Human Mutation, 1998
The role of the peripherin/RDS gene in retinal dystrophies.
Kohl S et al.
Acta Anatomica, 1998
RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.
Kohl S et al.
Journal of Medical Genetics, 1997
Genetic heterogeneity in autosomal dominant pattern dystrophy of the retina.
Weigell-Weber M et al.
Molecular Vision, 1996
Retinal dystrophies and variants in PRPH2.
Palma MMD et al.
Arquivos Brasileiros De Oftalmologia, 0