Associated Papers
The value of genetic testing in pediatric and adult ophthalmology.
Kellner U et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.v, 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
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 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
Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.
da Palma MM et al.
Ophthalmic Genetics, 2024
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
New Insights on the Regulatory Gene Network Disturbed in Central Areolar Choroidal Dystrophy-Beyond Classical Gene Candidates.
Kazmierczak de Camargo JP et al.
Frontiers in Genetics, 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
Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.
Reeves MJ et al.
Human Mutation, 2020
PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophy.
Daftarian N et al.
Ophthalmic Genetics, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
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
Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease.
Iannaccone A
Documenta Ophthalmologica. Advances in Ophthalmology, 2001
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