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

Audiological profile of the prevalent genetic form of childhood sensorineural hearing loss due to GJB2 mutations in northern Greece.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery - 1 May 2004

Iliadou V, Eleftheriades N, Metaxas A S, Skevas A, Kiratzidis T, Pampanos A, Voyiatzis N, Grigoriadou M, Petersen M B, Iliades T

Abstract excerpt

The present study describes the audiological profile of genetic hearing loss resulting from GJB2 mutations in northern Greece, as this represents the most frequent single cause of childhood sensorineural hearing loss. The 35delG mutation in homozygosity was detected in 27 of 107 patients (25.2%). The audiological profile is that of a profound or severe sensorineural hearing loss, with a sloping or flat...

Read the complete abstract on PubMed

Topics

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

Share to Audiometry, Pure-Tone
Share to Connexin 26

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexins

Share to Greece

Share to Hearing Loss, Sensorineural

Share to Prevalence

Share to Risk Assessment

Share to Severity of Illness Index

Source

Identifiers

PMID: 15138772
DOI: 10.1007/s00405-003-0679-7

Genes

GJB2

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Audiological profile of the prevalent genetic form of childhood sensorineural hearing loss due to GJB2 mutations in northern Greece.PMID 15138772Read ↗

Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss.Semantic proximity Read ↗

The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominatesSemantic proximity Read ↗

Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.Semantic proximity Read ↗

Children with GJB2 gene mutations have various audiological phenotypes.Semantic proximity Read ↗

Diagnosis routine and approach in genetic sensorineural hearing loss.Semantic proximity Read ↗

A genotype-phenotype correlation in Sicilian patients with GJB2 biallelic mutations.Semantic proximity Read ↗

Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss.Semantic proximity Read ↗

Incidence of the del35G/GJB2 mutation in Croatian newborns with hearing impairment.Semantic proximity Read ↗

Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.Semantic proximity Read ↗

[The audiological phenotype and the prevalence of GJB2-related sensorineural loss of hearing in the infants suffering acoustic disturbances].Semantic proximity Read ↗

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

Interaction between audiology and genetics in the study of a family: the complexity of molecular diagnosis and genetic counseling.Semantic proximity Read ↗

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