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 Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population.

Scientific reports - 6 Apr 2017

Jung Jinsei, Lee Joon Suk, Cho Kyeong Jee, Yu Seyoung, Yoon Joo-Heon, Yung Gee Heon, Choi Jae Young

Abstract excerpt

Discriminating between inherited and non-inherited sporadic hearing loss is challenging. Here, we attempted to delineate genetic inheritance in simplex cases of severe-to-profound congenital hearing loss in Korean children. Variations in SLC26A4 and GJB2 in 28 children with bilateral severe-to-profound non-syndromic hearing loss (NSHL) without familial history were analyzed using Sanger sequencing. Genetic...

Read the complete abstract on PubMed

Topics

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

Share to Audiometry
Share to Cochlear Implantation
Share to Connexin 26

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Family

Share to Hearing Loss

Share to Membrane Transport Proteins

Share to Sulfate Transporters

Source

Open in PubMed Open full text

Identifiers

PMID: 28383030
DOI: 10.1038/srep45973
PMCID: PMC5382691

Genes

GJB2
CDH23

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 Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population.PMID 28383030Read ↗

Molecular etiology of non-dominant, non-syndromic, mild-to-moderate childhood hearing impairment in Chinese Hans.Semantic proximity Read ↗

Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.Semantic proximity Read ↗

Genetic causes of moderate to severe hearing loss point to modifiers.Semantic proximity Read ↗

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.Semantic proximity Read ↗

Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.Semantic proximity Read ↗

Genetic profiles of non-syndromic severe-profound hearing loss in Chinese Hans by whole-exome sequencing.Semantic proximity Read ↗

Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss.Semantic proximity Read ↗

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.Semantic proximity Read ↗

Identification of Known and Novel Genetic Variants in Sensorineural Hearing Loss: Insights from Whole Exome Sequencing in Indian FamiliesSemantic proximity Read ↗

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.Semantic proximity Read ↗

Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing.Semantic proximity Read ↗

Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment.Semantic proximity Read ↗

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