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

A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.

Molecular vision - 1 Jan 2012

Cohen Ben, Chervinsky Elena, Jabaly-Habib Haneen, Shalev Stavit A, Briscoe Daniel, Ben-Yosef Tamar

Abstract excerpt

PURPOSE: To investigate the genetic basis for autosomal recessive cone-rod dystrophy in a consanguineous Israeli Christian Arab family. METHODS: Patients underwent a detailed ophthalmic examination, including funduscopy, electroretinography (ERG), visual field testing, and optical coherence tomography. Genome-wide homozygosity mapping using a single nucleotide polymorphism array was performed to identify...

Read the complete abstract on PubMed

Topics

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

Share to Arabs
Share to Cadherin Related Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroretinography

Share to Israel

Share to Retinal Cone Photoreceptor Cells

Share to Retinitis Pigmentosa

Share to RNA Splice Sites

Share to Visual Field Tests

Source

Open in PubMed Open full text

Identifiers

PMID: 23233793
PMCID: PMC3519373

Genes

CDHR1
ERG

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

A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.PMID 23233793Read ↗

CDHR1-Associated Retinal Dystrophies: Expanding the Clinical and Genetic Spectrum with a Hungarian Cohort.Semantic proximity Read ↗

Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration.Semantic proximity Read ↗

CDHR1 mutations in retinal dystrophies.Semantic proximity Read ↗

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.Semantic proximity Read ↗

A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon SkippingSemantic proximity Read ↗

Clinical characteristics of early retinal disease due to CDHR1 mutation.Semantic proximity Read ↗

A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis.Semantic proximity Read ↗

A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)Semantic proximity Read ↗

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.Semantic proximity Read ↗

Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature.Semantic proximity Read ↗

The genetic landscape of inherited retinal dystrophies in Arabs.Semantic proximity Read ↗

A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy.Semantic proximity Read ↗

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