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

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

HNO - 1 May 2003

Tóth T, Kupka S, Sziklai I, Blin N, Zenner H-P, Pfister M

Abstract excerpt

BACKGROUND: Hereditary hearing impairment constitutes a heterogeneous class of disorders showing different patterns of inheritance and involving multiple genes. Mutations in the GJB2 gene, especially the 35delG mutation, have been established as a major cause of inherited and sporadic nonsyndromic hearing impairment in different populations. METHODS: We analyzed 14 northeast Hungarian families and 69 sporadic...

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 Codon, Terminator
Share to Connexin 26

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexins

Share to Deafness

Share to Frameshift Mutation

Share to Genetic Carrier Screening

Share to Guanine

Source

Identifiers

PMID: 12835856
DOI: 10.1007/s00106-002-0737-2

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Phenotype of patients showing hearing impairment based on the 35delG mutation in the connexin 26 gene].PMID 12835856Read ↗

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

Unusual phenotype in 35delG mutation: a case report.Semantic proximity Read ↗

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

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

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

A genotype-phenotype correlation for GJB2 (connexin 26) deafness.Semantic proximity Read ↗

Correlation between audiometric data and the 35delG mutation in ten patients.Semantic proximity Read ↗

[The mutation 35delG of the gene of the connexin 26 is a frequent cause of autosomal-recessive non-syndromic hearing loss in Morocco].Semantic proximity Read ↗

[Congenital hearing loss. Molecular genetic diagnosis of connexin genes and genetic counselling].Semantic proximity Read ↗

[Analysis of genotype-phenotype correlation for GJB2 in 221 non-syndromic deafness probands and their pedigrees].Semantic proximity Read ↗

[Family history, clinical features, and molecular characterization of a patient with autosomal recessive non-syndromic hearing loss].Semantic proximity Read ↗

[Connexin gene 26 (GJB2) mutations in patients with hereditary non-syndromic sensorineural loss of hearing in the Republic of Sakha (Yakutia)].Semantic proximity Read ↗

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