Associated Papers
Bilateral Sector Macular Dystrophy Associated with PRPH2 Variant c.623G>A (p.Gly208Asp).
Kellner S et al.
Journal of Clinical Medicine, 2025
Real-World Engagement with Free Genotyping by Patients with Inherited Retinal Disease in a Single Private Retinal Centre in Australia.
Fry LE et al.
Seminars in Ophthalmology, 2025
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
Longitudinal Analysis of Functional and Structural Outcome Measures in PRPH2-Associated Retinal Dystrophy.
Heath Jeffery RC et al.
Ophthalmology. Retina, 2023
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
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
30718709 (PubMed )
Supplement: 41598_2018_38007_MOESM2_ESM.xlsx › Ark1
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
26796962 (PubMed )
Supplement: pgen.1005811.s007.xlsx › Tabelle1
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations.
Grover S et al.
Ophthalmology, 2002
In vivo assessment of photoreceptor function in human diseases caused by photoreceptor-specific gene mutations.
Cideciyan AV
Methods in Enzymology, 2000
A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration.
Ekström U et al.
Ophthalmic Genetics, 1998
Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS.
Ekström U et al.
Ophthalmic Genetics, 1998
The role of the peripherin/RDS gene in retinal dystrophies.
Kohl S et al.
Acta Anatomica, 1998
A correlation between computer-predicted changes in secondary structure and the phenotype of retinal degeneration associated with mutations in peripherin/RDS.
Nakazawa M et al.
Current Eye Research, 1997
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.
Felbor U et al.
Human Mutation, 1997
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