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

Clinical heterogeneity in a family with mutations in USH2A.

JAMA ophthalmology - 1 Mar 2015

Lenassi Eva, Robson Anthony G, Luxon Linda M, Bitner-Glindzicz Maria, Webster Andrew R

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 Deafness
Share to Electroretinography
Share to Exons
Share to Extracellular Matrix Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Heterogeneity

Share to Retinitis Pigmentosa

Share to Siblings

Share to Usher Syndromes

Source

Identifiers

PMID: 25521520
DOI: 10.1001/jamaophthalmol.2014.5163

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical heterogeneity in a family with mutations in USH2A.PMID 25521520Read ↗

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.Semantic proximity Read ↗

Novel mutations of the USH2A gene and clinical phenotypes in Chinese Usher syndrome familiesSemantic proximity Read ↗

A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family.Semantic proximity Read ↗

Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.Semantic proximity Read ↗

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.Semantic proximity Read ↗

Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.Semantic proximity Read ↗

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

Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.Semantic proximity Read ↗

Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case reportSemantic proximity Read ↗

Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.Semantic proximity Read ↗

Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA.Semantic proximity Read ↗

Whole-exome sequencing revealed two novel mutations in Usher syndrome.Semantic proximity Read ↗

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