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 mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.

The New England journal of medicine - 24 Apr 2003

Ben-Yosef Tamar, Ness Seth L, Madeo Anne C, Bar-Lev Adi, Wolfman Jessica H, Ahmed Zubair M, Desnick Robert J, Willner Judith P, Avraham Karen B, Ostrer Harry, Oddoux Carole, Griffith Andrew J, Friedman Thomas B

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Cadherin Related Proteins
Share to Chromosomes, Human, Pair 10
Share to Deafness

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Founder Effect

Share to Hearing Loss, Sensorineural

Share to Protein Precursors

Share to Retinitis Pigmentosa

Source

Identifiers

PMID: 12711741
DOI: 10.1056/NEJMoa021502

Genes

PCDH15

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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 mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.PMID 12711741Read ↗

Compound heterozygous variants in PCDH15 non-coding regions in an Usher Syndrome Type 1F patient: minigene assay reveals pathogenicity of c.3123-1G>C.Semantic proximity Read ↗

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.Semantic proximity Read ↗

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.Semantic proximity Read ↗

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.Semantic proximity Read ↗

Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.Semantic proximity Read ↗

Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep-intronic variant in a Chinese child with profound hearing loss.Semantic proximity Read ↗

[Genetic diagnosis of a pedigree affected with Usher syndrome type 1D/F].Semantic proximity Read ↗

A new CARD15 mutation in Blau syndromeSemantic proximity Read ↗

Clinical utility gene card for: Usher syndrome.Semantic proximity Read ↗

Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.Semantic proximity Read ↗

Clinical heterogeneity in a family with mutations in USH2A.Semantic proximity Read ↗

Clinical phenotype and CARD15 gene mutation with Blau Syndrome in Chinese children and their parentsSemantic proximity Read ↗

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