Associated Papers
Genotype-Phenotype Correlations in PRPH2 Retinopathies: A Comprehensive Analysis of 36 Patients from the Oxford Eye Hospital, UK.
Al-Khuzaei S et al.
Genes, 2025
PRPH2-ASSOCIATED RETINAL DISEASES: A SYSTEMATIC REVIEW OF PHENOTYPIC FINDINGS.
AlAshwal SM et al.
American Journal of 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
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
37047703 (PubMed )
Supplement: ijms-24-06728-s001.zip › WangYW-PRPH2-sup_Table_S2_sub.xlsx › Sheet1
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
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 › TypeIII
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
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