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

Enlarged vestibular aqueduct: Looking for genotypic-phenotypic correlations.

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 Nov 2006

González-García José Angel, Ibáñez Andrés, Ramírez-Camacho Rafael, Rodríguez Antonio, García-Berrocal José Ramón, Trinidad Almudena

Abstract excerpt

The aim of this work is to provide a guide for clinical and genetic diagnosis and classification of the enlarged vestibular aqueduct syndrome based on a review of the literature and computerized databases with the words large and enlarged vestibular aqueduct. No more than 40 articles described association between the EVA phenotype and a known genetic alteration. Pendred's syndrome, distal renal tubular acidosis,...

Read the complete abstract on PubMed

Topics

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

Share to Genotype
Share to Hearing Loss

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Share to Vestibular Aqueduct

Source

Identifiers

PMID: 16830115
DOI: 10.1007/s00405-006-0095-x

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

Enlarged vestibular aqueduct: Looking for genotypic-phenotypic correlations.PMID 16830115Read ↗

Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features.Semantic proximity Read ↗

Genetic Variants and Audiometric Patterns in Nonsyndromic Enlarged Vestibular Aqueduct Chinese Children with Complete Hearing LossSemantic proximity Read ↗

Enlarged vestibular aqueduct as a cause of postneonatal deafness.Semantic proximity Read ↗

Genetic variants and audiometric patterns in nonsyndromic enlarged vestibular aqueduct Chinese children with complete hearing loss.Semantic proximity Read ↗

Enlarged vestibular aqueduct: review of controversial aspects.Semantic proximity Read ↗

Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts.Semantic proximity Read ↗

Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct.Semantic proximity Read ↗

Investigation of DFNB4 SLC26A4 mutation in patients with enlarged vestibular aquaduct.Semantic proximity Read ↗

Significance of unilateral enlarged vestibular aqueduct.Semantic proximity Read ↗

SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct.Semantic proximity Read ↗

Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity.Semantic proximity Read ↗

Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.Semantic proximity Read ↗

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