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

Genetic screening for hearing loss.

Clinical otolaryngology and allied sciences - 1 Aug 2003

Hone S W, Smith R J H

Abstract excerpt

The recent discovery that mutations in GJB2, the gene that encodes connexin 26 (Cx26), are responsible for up to half the cases of autosomal recessive non-syndromic hearing loss and a significant proportion of sporadic hearing loss has had immense implications for medical evaluation and genetic screening. It is now possible to couple mutational analysis of GJB2 with universal screening and provide an unequivocal...

Read the complete abstract on PubMed

Topics

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

Share to Connexin 26
Share to Connexins
Share to GJB2 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to WFS1 gene

Share to Genetic Testing

Share to Hearing Disorders

Share to Mutation

Share to Syndrome

Source

Identifiers

PMID: 12871240
DOI: 10.1046/j.1365-2273.2003.00700.x

Genes

GJB2
WFS1

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

Genetic screening for hearing loss.PMID 12871240Read ↗

High frequency hearing loss correlated with mutations in the GJB2 gene.Semantic proximity Read ↗

Molecular diagnosis of hearing loss.Semantic proximity Read ↗

Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.Semantic proximity Read ↗

Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)Semantic proximity Read ↗

Advances in hereditary deafness.Semantic proximity Read ↗

Molecular diagnosis of hearing loss.Semantic proximity Read ↗

Advances in the Understanding of the Genetic Causes of Hearing Loss in Children Inform a Rational Approach to Evaluation.Semantic proximity Read ↗

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.Semantic proximity Read ↗

GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling.Semantic proximity Read ↗

Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss.Semantic proximity Read ↗

Genetic causes of nonsyndromic hearing loss.Semantic proximity Read ↗

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.Semantic proximity Read ↗

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