Associated Papers
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Clinical and Imaging Characteristics of PRPH2 Retinopathies in a Longitudinal Cohort and Diagnostic Implications.
Seddon JM et al.
Investigative Ophthalmology & Visual Science, 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
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
Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2.
Conley SM et al.
Investigative Ophthalmology & Visual Science, 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
Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy.
Georgiou M et al.
Orphanet Journal of Rare Diseases, 2021
ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease.
Strayve D et al.
Human Molecular Genetics, 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
The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases.
Tebbe L et al.
Cells, 2020
Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa.
Diakatou M et al.
International Journal of Molecular Sciences, 2019
Recessive pediatric-onset cone-rod dysfunction or dominant maculopathy in a consanguineous family harboring the peripherin mutation p.Arg220Gln.
Khan AO
Ophthalmic Genetics, 2019
Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa.
Conley SM et al.
Human Molecular Genetics, 2017
PRPH2/RDS and ROM-1: Historical context, current views and future considerations.
Stuck MW et al.
Progress in Retinal and Eye Research, 2016
Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation.
Khan AO et al.
The British Journal of Ophthalmology, 2016
Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.
Coussa RG et al.
Investigative Ophthalmology & Visual Science, 2015
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
Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.
Daiger SP et al.
Cold Spring Harbor Perspectives in Medicine, 2014
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
Wang F et al.
Human Genetics, 2014
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
Wang X et al.
Journal of Medical Genetics, 2013
[Gene mapping and analysis of candidate genes in a Chinese family with autosomal dominant congenital coralliform cataract].
Ju H et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2012
Gene mapping and mutation screening in candidate genes in a Chinese family of autosomal dominant retinitis pigmentosa.
Xiang F et al.
Genetika, 2012
Retinitis pigmentosa: genes and disease mechanisms.
Ferrari S et al.
Current Genomics, 2011
ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
Poloschek CM et al.
Investigative Ophthalmology & Visual Science, 2010
A monogenic dominant mutation in Rom1 generated by N-ethyl-N-nitrosourea mutagenesis causes retinal degeneration in mice.
Sato H et al.
Molecular Vision, 2010
Gene mapping of autosomal dominant retinitis pigmentosa in a Chinese family.
Dai LL et al.
Chinese Medical Journal, 2009
Leber congenital amaurosis: genes, proteins and disease mechanisms.
den Hollander AI et al.
Progress in Retinal and Eye Research, 2008
Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa.
Leroy BP et al.
The British Journal of Ophthalmology, 2007
Transgenic animal studies of human retinal disease caused by mutations in peripherin/rds.
Ding XQ et al.
Advances in Experimental Medicine and Biology, 2006
Role of subunit assembly in autosomal dominant retinitis pigmentosa linked to mutations in peripherin 2.
Molday RS et al.
Novartis Foundation Symposium, 2004
The role of subunit assembly in peripherin-2 targeting to rod photoreceptor disk membranes and retinitis pigmentosa.
Loewen CJ et al.
Molecular Biology of the Cell, 2003
Beyond Mendel: an evolving view of human genetic disease transmission.
Badano JL et al.
Nature Reviews. Genetics, 2002
Genetic modifiers of vision and hearing.
Haider NB et al.
Human Molecular Genetics, 2002
Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa.
Kedzierski W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2001
Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa.
Loewen CJ et al.
The Journal of Biological Chemistry, 2001
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
Sohocki MM et al.
Human Mutation, 2001
Expression and characterization of peripherin/rds-rom-1 complexes and mutants implicated in retinal degenerative diseases.
Goldberg AF et al.
Methods in Enzymology, 2000
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
Floeth M et al.
American Journal of Human Genetics, 1999
Analysis of the rds/peripherin.rom1 complex in transgenic photoreceptors that express a chimeric protein.
Kedzierski W et al.
The Journal of Biological Chemistry, 1999
Transgenic analysis of rds/peripherin N-glycosylation: effect on dimerization, interaction with rom1, and rescue of the rds null phenotype.
Kedzierski W et al.
Journal of Neurochemistry, 1999
Detection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system.
Ekström U et al.
Molecular Pathology : Mp, 1998