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 detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

European journal of human genetics : EJHG - 1 Oct 2015

Lenassi Eva, Vincent Ajoy, Li Zheng, Saihan Zubin, Coffey Alison J, Steele-Stallard Heather B, Moore Anthony T, Steel Karen P, Luxon Linda M, Héon Elise, Bitner-Glindzicz Maria, Webster Andrew R

Abstract excerpt

Defects in USH2A cause both isolated retinal disease and Usher syndrome (ie, retinal disease and deafness). To gain insights into isolated/nonsyndromic USH2A retinopathy, we screened USH2A in 186 probands with recessive retinal disease and no hearing complaint in childhood (discovery cohort) and in 84 probands with recessive retinal disease (replication cohort). Detailed phenotyping, including retinal imaging and...

Read the complete abstract on PubMed

Topics

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

Share to Exons
Share to Extracellular Matrix Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Introns

Share to Retinal Diseases

Share to Retinitis Pigmentosa

Share to Surveys and Questionnaires

Share to Usher Syndromes

Source

Open in PubMed Open full text

Identifiers

PMID: 25649381
DOI: 10.1038/ejhg.2014.283
PMCID: PMC4592079

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 detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.PMID 25649381Read ↗

Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.Semantic proximity Read ↗

Targeted exon sequencing in Usher syndrome type I.Semantic proximity Read ↗

Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.Semantic proximity Read ↗

A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic TargetsSemantic proximity Read ↗

USH2A-retinopathy: From genetics to therapeutics.Semantic proximity Read ↗

A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets.Semantic proximity Read ↗

The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.Semantic proximity Read ↗

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.Semantic proximity Read ↗

Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.Semantic proximity Read ↗

USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa.Semantic proximity Read ↗

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.Semantic proximity Read ↗

USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients.Semantic proximity Read ↗

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