[HTML][HTML] Genetic determinants of non-syndromic enlarged vestibular aqueduct: a review

S Roesch, G Rasp, A Sarikas, S Dossena - Audiology Research, 2021 - mdpi.com
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 …

X-linked sensorineural hearing loss: a literature review

V Corvino, P Apisa, R Malesci, C Laria… - Current …, 2018 - ingentaconnect.com
Sensorineural hearing loss is a very diffuse pathology (about 1/1000 born) with several
types of transmission. X-linked hearing loss accounts for approximately 1%-2% of cases of …

[HTML][HTML] A comprehensive study on the etiology of patients receiving cochlear implantation with special emphasis on genetic epidemiology

M Miyagawa, SY Nishio, SI Usami - Otology & Neurotology, 2016 - journals.lww.com
Objective: Cochlear implantation is the most important treatment currently available for
profound sensorineural hearing loss. The aim of this study was to investigate the etiology of …

[HTML][HTML] A New Pathogenic Variant in POU3F4 Causing Deafness Due to an Incomplete Partition of the Cochlea Paved the Way for Innovative Surgery

AM Tekin, M Matulic, W Wuyts, MZ Assadi, G Mertens… - Genes, 2021 - mdpi.com
Incomplete partition type III (IP-III) is a relatively rare inner ear malformation that has been
associated with a POU3F4 gene mutation. The IP-III anomaly is mainly characterized by …

[HTML][HTML] X-linked malformation deafness: neurodevelopmental symptoms are common in children with IP3 malformation and mutation in POU3F4

H Smeds, J Wales, E Karltorp, BM Anderlid… - Ear and …, 2022 - journals.lww.com
Objective: Incomplete partition type 3 (IP3) malformation deafness is a rare hereditary cause
of congenital or rapid progressive hearing loss. The children present with a severe to …

[HTML][HTML] The importance of early genetic diagnostics of hearing loss in children

N Božanić Urbančič, S Battelino, T Tesovnik… - Medicina, 2020 - mdpi.com
Hearing loss is one of the most common sensory deficits. It carries severe medical and
social consequences, and therefore, universal newborn hearing screening was introduced …

Third window lesions

ML Ho - Neuroimaging Clinics, 2019 - neuroimaging.theclinics.com
Third window abnormalities are bony defects of the inner ear that enable abnormal
communication with the middle ear and/or cranial cavity. Normally, the inner ear and middle …

X-linked malformation and cochlear implantation

H Smeds, J Wales, F Asp, U Löfkvist… - Otology & …, 2017 - journals.lww.com
Objective: To evaluate if cochlear implantation is safe and constitutes an option for hearing
rehabilitation of children with x-linked inner ear malformation. Study Design: Retrospective …

[HTML][HTML] Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss

A Pollak, U Lechowicz, A Kędra, P Stawiński… - PloS one, 2016 - journals.plos.org
POU3F4 mutations (DFNX2) are the most prevalent among non-syndromic X-linked hearing
loss (HL) identified to date. Clinical manifestations of DFNX2 usually comprise congenital …

Evaluation and management of nonsyndromic congenital hearing loss

JL Funamura - Current opinion in otolaryngology & head and …, 2017 - journals.lww.com
Evaluation and management of nonsyndromic congenital hearing... : Current Opinion in
Otolaryngology & Head and Neck Surgery Evaluation and management of nonsyndromic …