Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.

Investigative ophthalmology & visual science - 19 Feb 2013

Churchill Jennifer D, Bowne Sara J, Sullivan Lori S, Lewis Richard Alan, Wheaton Dianna K, Birch David G, Branham Kari E, Heckenlively John R, Daiger Stephen P

Abstract excerpt

PURPOSE: We determined the fraction of families in a well-characterized cohort with a provisional diagnosis of autosomal dominant retinitis pigmentosa (adRP) that have disease-causing mutations in the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene or the retinitis pigmentosa 2 (RP2) gene. METHODS: Families with a provisional clinical diagnosis of adRP, and a pedigree consistent with adRP but no...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Electroretinography
Share to Eye Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, X-Linked

Share to Genetic Diseases, X-Linked

Share to GTP-Binding Proteins

Share to Guanine Nucleotide Exchange Factors

Share to Intracellular Signaling Peptides and Proteins

Share to Retinitis Pigmentosa

Source

Open in PubMed Open full text

Identifiers

PMID: 23372056
DOI: 10.1167/iovs.12-11541
PMCID: PMC3597192

Genes

RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.PMID 23372056Read ↗

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.Semantic proximity Read ↗

Clinical sequencing of the retinitis pigmentosa gene RPGR in over 1,000 cases of vision loss.Semantic proximity Read ↗

Clinical and molecular findings in children with retinitis pigmentosa.Semantic proximity Read ↗

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.Semantic proximity Read ↗

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.Semantic proximity Read ↗

A population-based epidemiological and genetic study of X-linked retinitis pigmentosa.Semantic proximity Read ↗

Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.Semantic proximity Read ↗

X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.Semantic proximity Read ↗

Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.Semantic proximity Read ↗

Prevalence of RPGR-mutated X-linked retinitis pigmentosa among males.Semantic proximity Read ↗

Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.