Associated Papers
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
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
Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy.
Gill JS et al.
The British Journal of Ophthalmology, 2019
PRPH2/RDS and ROM-1: Historical context, current views and future considerations.
Stuck MW et al.
Progress in Retinal and Eye Research, 2016
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
Structural characterization of the second intra-discal loop of the photoreceptor tetraspanin RDS.
Chakraborty D et al.
The Febs Journal, 2013
Pattern dystrophy with high intrafamilial variability associated with Y141C mutation in the peripherin/RDS gene and successful treatment of subfoveal CNV related to multifocal pattern type with anti-VEGF (ranibizumab) intravitreal injections.
Vaclavik V et al.
Retina (philadelphia, Pa.), 2012
Structural and functional relationships between photoreceptor tetraspanins and other superfamily members.
Conley SM et al.
Cellular and Molecular Life Sciences : Cmls, 2012
Biochemical analysis of phenotypic diversity associated with mutations in codon 244 of the retinal degeneration slow gene.
Conley SM et al.
Biochemistry, 2010
Late-onset cone photoreceptor degeneration induced by R172W mutation in Rds and partial rescue by gene supplementation.
Conley S et al.
Investigative Ophthalmology & Visual Science, 2007
Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene).
Schatz P et al.
Acta Ophthalmologica Scandinavica, 2003
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
Sohocki MM et al.
Human Mutation, 2001
Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase.
Gregory-Evans K et al.
Ophthalmology, 2000
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
Bowne SJ et al.
Human Molecular Genetics, 1999
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.
Sohocki MM et al.
American Journal of Human Genetics, 1998
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.
Kelsell RE et al.
Human Molecular Genetics, 1998
A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q.
Papaioannou M et al.
Journal of Medical Genetics, 1998
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.
Cremers FP et al.
Human Molecular 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
A complex allele (1064delTC and IVS2 + 22ins7) in the peripherin/RDS gene in retinitis pigmentosa with macular dystrophy.
Bareil C et al.
Ophthalmic Genetics, 1997
RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.
Kohl S et al.
Journal of Medical Genetics, 1997
Signal transduction in the retina and inherited retinopathies.
Shastry BS
Cellular and Molecular Life Sciences : Cmls, 1997
Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p.
Kelsell RE et al.
Human Molecular Genetics, 1997
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.
Felbor U et al.
Human Mutation, 1997
Molecular genetics of central retinal dystrophies.
Moore AT et al.
Australian and New Zealand Journal of Ophthalmology, 1996
Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene.
Nakazawa M et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 1996
Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.
Keen TJ et al.
Human Mutation, 1996
Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q.
Kelsell RE et al.
Human Molecular Genetics, 1995
Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration.
Nakazawa M et al.
Human Molecular Genetics, 1994
Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.
Michaelides M et al.
Survey of Ophthalmology, 0