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

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

Investigative ophthalmology & visual science - 1 Mar 2010

Jaijo Teresa, Aller Elena, García-García Gema, Aparisi María J, Bernal Sara, Avila-Fernández Almudena, Barragán Isabel, Baiget Montserrat, Ayuso Carmen, Antiñolo Guillermo, Díaz-Llopis Manuel, Külm Maigi, Beneyto Magdalena, Nájera Carmen, Millán Jose M

Abstract excerpt

PURPOSE: The purpose of this study was to test the ability of the genotyping microarray for Usher syndrome (USH) to identify the mutations responsible for the disease in a cohort of 183 patients with USH. METHODS: DNA from 183 patients with Usher syndrome from the Spanish population was analyzed using a genotyping microarray containing 429 previously identified disease-associated variants in eight USH genes....

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 Cadherins

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

Share to Cytoskeletal Proteins

Share to Extracellular Matrix Proteins

Share to Myosin VIIa

Share to Myosins

Share to Receptors, G-Protein-Coupled

Share to Usher Syndromes

Source

Identifiers

PMID: 19683999
DOI: 10.1167/iovs.09-4085

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.PMID 19683999Read ↗

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.Semantic proximity Read ↗

Development of a genotyping microarray for Usher syndrome.Semantic proximity Read ↗

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.Semantic proximity Read ↗

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.Semantic proximity Read ↗

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

Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.Semantic proximity Read ↗

MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome.Semantic proximity Read ↗

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

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.Semantic proximity Read ↗

Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).Semantic proximity Read ↗

Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.Semantic proximity Read ↗

Four-year follow-up of diagnostic service in USH1 patients.Semantic proximity Read ↗

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