About: Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

article

Attributes	Values
rdf:type	Item
description	article (en) wetenschappelijk artikel (nl) наукова стаття, опублікована в листопаді 1993 (uk) article scientifique publié en 1993 (fr) im November 1993 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q57785269-7E45E193-E165-4C17-B3B5-22957D21FAF5
publication date	1993-11-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q57785269-14599DF8-C3B6-407E-AEAF-9490148AA6F3
language of work or name	English
author name string	wds:Q57785269-3A56EEF2-25C1-4A8F-9102-37867B3539F2 wds:Q57785269-8EEDD0AD-8A65-4599-85E7-395ED2093E4E wds:Q57785269-C94B5B6D-9D1B-48B9-BBEE-2D6E682C2471 wds:Q57785269-E280E031-F1D9-4710-9B67-ECAAFF17D2F0
author name string	V C Sheffield R G Weleber W H Murphey R E Carr
rdfs:label	Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene (en) Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene (nl)
skos:prefLabel	Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene (en) Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene (nl)
name	Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene (en) Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene (nl)
author	wds:Q57785269-E395C6DB-1385-4F0C-A6AB-571A3C049062
author	Edwin M. Stone
title	wds:Q57785269-883B9055-B0E8-4641-B8DA-2226FF1BD9E0
title	Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene (en)
page(s)	wds:Q57785269-4FBDC909-5331-4CA1-A802-F12E1D670E6A
page(s)	1531-1542
instance of	wds:Q57785269-A0AB499D-8082-4D07-A3CF-D44CFEDB1B17
instance of	scholarly article
main subject	wds:Q57785269-5AD5A447-AB96-4FEB-8EF0-8B6A69DC6A7B
main subject	retinitis pigmentosa
PubMed ID	wds:Q57785269-25DA581B-9D20-47D8-AA67-17C138EEACAF
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/8240110
PubMed ID	8240110
published in	wds:Q57785269-77A008AA-3F39-454B-B278-9916F49E73CE
published in	JAMA Ophthalmology
issue	wds:Q57785269-BC874158-06F2-49C5-83CF-C7150DA9EF60
volume	wds:Q57785269-E2BB74CB-CB96-48CB-877E-145D2B3728AC
issue	11
volume	111
DOI	wds:Q57785269-EA8EAF93-4116-4775-B70D-44A4034BE24A
DOI	http://dx.doi.org/10.1001/ARCHOPHT.1993.01090110097033
DOI	10.1001/ARCHOPHT.1993.01090110097033
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57785269
is cites work of	Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. Serine-27-Phenylalanine Mutation within the Peripherin/RDS Gene in a Family with Cone Dystrophy Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene Identification of genes causing photoreceptor degenerations leading to blindness A twin study of age-related macular degeneration Retinitis pigmentosa: defined from a molecular point of view Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q. Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture Intrafamilial variation of the phenotype in Bardet-Biedl syndrome Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14 Autosomal dominant Stargardt-like macular dystrophy A monogenic dominant mutation in Rom1 generated by N-ethyl-N-nitrosourea mutagenesis causes retinal degeneration in mice Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence Genetic association of apolipoprotein E with age-related macular degeneration Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration Management of hereditary retinal degenerations: present status and future directions Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. A novel mutation in Prph2, a gene regulated by Nr2e3, causes retinal degeneration and outer-segment defects similar to Nr2e3 ( rd7/rd7 ) retinas A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene The influence of genetics on response to treatment with ranibizumab (Lucentis) for age-related macular degeneration: the Lucentis Genotype Study (an American Ophthalmological Society thesis). Histopathology and immunocytochemistry of the neurosensory retina in fundus flavimaculatus. Genetic and molecular studies of macular dystrophies: recent developments Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression The genetics of inherited macular dystrophies iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degeneration. The role of inflammation in the pathogenesis of age-related macular degeneration Progress toward effective treatments for human photoreceptor degenerations Nanoparticles for retinal gene therapy Genetic and phenotypic heterogeneity in pattern dystrophy Disulfide-mediated oligomerization of Peripherin/Rds and Rom-1 in photoreceptor disk membranes. Implications for photoreceptor outer segment morphogenesis and degeneration Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS RDS/peripherin gene mutations are frequent causes of central retinal dystrophies Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies The genetic contribution to the phenotype Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene). Role of peripherin/rds in vertebrate photoreceptor architecture and inherited retinal degenerations Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene Abnormal cone synapses in human cone-rod dystrophy Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa A twin study on age-related macular degeneration Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1. Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 196 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software