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

Molecular epidemiology of Usher syndrome in Italy.

Molecular vision - 1 Jan 2011

Vozzi Diego, Aaspõllu Anu, Athanasakis Emmanouil, Berto Anna, Fabretto Antonella, Licastro Danilo, Külm Maigi, Testa Francesco, Trevisi Patrizia, Vahter Marju, Ziviello Carmela, Martini Alessandro, Simonelli Francesca, Banfi Sandro, Gasparini Paolo

Abstract excerpt

PURPOSE: Usher syndrome is an autosomal recessive disorder characterized by hearing and vision loss. Usher syndrome is divided into three clinical subclasses (type 1, type 2, and type 3), which differ in terms of the severity and progression of hearing loss and the presence or absence of vestibular symptoms. Usher syndrome is defined by significant genetic heterogeneity, with at least 12 distinct loci described...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Genetic Heterogeneity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss

Share to Molecular Epidemiology

Share to Oligonucleotide Array Sequence Analysis

Share to Severity of Illness Index

Share to Usher Syndromes

Source

Open in PubMed Open full text

Identifiers

PMID: 21738395
PMCID: PMC3130723

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

Molecular epidemiology of Usher syndrome in Italy.PMID 21738395Read ↗

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

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

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

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

Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.Semantic proximity Read ↗

[Genetics of Usher syndrome].Semantic proximity Read ↗

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.Semantic proximity Read ↗

The changing face of Usher syndrome: clinical implications.Semantic proximity Read ↗

Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients.Semantic proximity Read ↗

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.Semantic proximity Read ↗

Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome.Semantic proximity Read ↗

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.Semantic proximity Read ↗

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