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

Hearing function in heterozygous carriers of a pathogenic GJB2 gene mutation.

Physiological research - 1 Jan 2013

Groh D, Seeman P, Jilek M, Popelář J, Kabelka Z, Syka J

Abstract excerpt

The most frequent hereditary hearing loss is caused by mutations in the GJB2 gene coding for the gap junction beta 2 protein Connexin 26 (Cx26). In contrast to many studies performed in patients with bi-allelic mutations, audiometric studies on heterozygotes are sparse and often contradictory. To...

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 Czech Republic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Markers

Share to Hearing Loss, Sensorineural

Share to Hearing Tests

Share to Heterozygote

Share to Incidence

Source

Identifiers

PMID: 23489192
DOI: 10.33549/physiolres.932475

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23489192-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hearing function in heterozygous carriers of a pathogenic GJB2 gene mutation.PMID 23489192Read ↗

Auditory measurements in parents of individuals with autosomal recessive hearing loss.Semantic proximity Read ↗

Audiometric evaluation of carriers of the connexin 26 mutation 35delG.Semantic proximity Read ↗

[Progressive hearing impairment with deletion in GJB2 gene despite normal newborn hearing screening].Semantic proximity Read ↗

The effects of a connexin 26 mutation--35delG--on oto-acoustic emissions and brainstem evoked potentials: homozygotes and carriers.Semantic proximity Read ↗

GJB2 (Connexin 26) gene mutations among hearing-impaired persons in a Swedish cohort.Semantic proximity Read ↗

[Phenotype of patients showing hearing impairment based on the 35delG mutation in the connexin 26 gene].Semantic proximity Read ↗

[Frequency of the Connexin26/35delG mutation and its characteristic phenotype in patients with hearing impairment and controls in Northeastern Hungary].Semantic proximity Read ↗

GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary.Semantic proximity Read ↗

Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss.Semantic proximity Read ↗

Audiological and electrocochleography findings in hearing-impaired children with connexin 26 mutations and otoacoustic emissions.Semantic proximity Read ↗

Hearing loss associated with 35delG mutation in Connexin-26 (GJB2) gene: audiogram analysis.Semantic proximity Read ↗

Hearing loss: frequency and functional studies of the most common connexin26 alleles.Semantic proximity Read ↗

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