Results 71 to 80 of about 2,252,434 (232)
The Egyptian Journal of Otolaryngology, 2022 Background The most common radiologically detectable congenital inner ear anomaly is an enlarged vestibular aqueduct (EVA), which is associated with varying degrees of hearing loss and vestibular disorders.
Mohamed Mohamed Elmoursy
doaj +1 more source
Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review
Audiology Research, 2021 Hearing loss is the most common sensorial deficit in humans and one of the most common birth defects. In developed countries, at least 60% of cases of hearing loss are of genetic origin and may arise from pathogenic sequence alterations in one of more ...
Sebastian Roesch +3 more
doaj +1 more source
Otolaryngology–Head and Neck Surgery, Volume 173, Issue 5, Page 1215-1227, November 2025.Abstract Objective The study aimed to describe the auditory phenotype of patients with bilateral enlarged vestibular aqueduct, including benefits of cochlear implantation, and to look for genotype‐phenotype correlation. Study Design Retrospective single‐center study. Setting Tertiary adult reference center.
Augustin Vigouroux +9 more
wiley +1 more source
Molecular Genetics & Genomic Medicine, 2022 Background In the Tunisian population, the molecular analysis of hearing impairment remains based on conventional approaches, which makes the task laborious and enormously expensive.
Mariem Ben Said +10 more
doaj +1 more source
BMC Medical Genetics, 2019 Background Recessive mutations of coding regions and splice sites of the SLC26A4 gene cause hearing loss with enlargement of the vestibular aqueduct (EVA).
Janet R. Chao +8 more
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The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness [PDF]
, 2015 Objective: To determine the prevalence and types of SLC26A4 mutations and the relevant phenotypes in a series of Iranian deaf patients. Design: A descriptive laboratory study.
Azadegan-Dehkordi, Fatemeh. +5 more
core
The Reconstruction of Peripheral Auditory Circuit: Recent Advances and Future Challenges
Advanced Science, Volume 12, Issue 29, August 7, 2025.This paper summarizes the potential of biomaterials, stem cells, and gene editing technologies in the regeneration of inner ear hair cells, spiral ganglion neurons, and inner ear organoids. Challenges and potential developments are discussed and explored.
Zhe Li +3 more
wiley +1 more source
Developmental Profiles of Young Deaf and Hard of Hearing Children and Their Associated Predictors
Child: Care, Health and Development, Volume 51, Issue 4, July 2025.ABSTRACT Background Concomitant developmental disability is common in deaf and hard of hearing (DHH) children. We describe the early developmental profiles of DHH children and explore factors that may be predictive of these profiles. Methods We report on data from DHH children aged 0–66 months who are participants of a longitudinal child hearing ...
Natalie Zehnwirth +3 more
wiley +1 more source
TMED3 Complex Mediates ER Stress‐Associated Secretion of CFTR, Pendrin, and SARS‐CoV‐2 Spike
Advanced Science, 2022 Under ER stress conditions, the ER form of transmembrane proteins can reach the plasma membrane via a Golgi‐independent unconventional protein secretion (UPS) pathway. However, the targeting mechanisms of membrane proteins for UPS are unknown. Here, this
Hak Park +15 more
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Functional characterization of human thyroid tissue with immunohistochemistry [PDF]
, 2007 Immunohistochemistry provides insights in the expression of functional proteins and of their localization in normal thyroid tissue and in thyroid diseases.
Bernard, Caillou +6 more
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