Results 71 to 80 of about 179,610 (183)

A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family

BMC Medical Genomics, 2022
Background The enlarged vestibular aqueduct (EVA), associated with mutations in the SLC26A4 gene, characterized by non-syndromic hearing loss, is an autosomal recessive disorder.
Ting Wu, Limei Cui, Yakui Mou, Wentao Guo, Dawei Liu, Jingjing Qiu, Cong Xu, Jiamin Zhou, Fengchan Han, Yan Sun   +9 more
doaj   +1 more source

The Enlarged Vestibular Aqueduct Syndrome (EVA Syndrome)

Ear, Nose & Throat Journal, 1993
The presentation to the Department of Pediatric Otolaryngology at the Children's Hospital of Michigan of a series of patients with sensorineural hearing loss and enlargement of the vestibular aqueduct prompted exploratory tympanotomy in three patients (two unilateral and one bilateral), for a total of four ears.
W M, Belenky, D N, Madgy, J S, Leider, C J, Becker, A J, Hotaling   +4 more
openaire   +2 more sources

Phase‐Contrast Magnetic Resonance Imaging Identifies Low Cerebrospinal Fluid Velocity at the Foramen Magnum in Small Breed Dogs With an Enlarged Ventricular System

Journal of Veterinary Internal Medicine, Volume 39, Issue 6, November/December 2025.
ABSTRACT Background In small breed dogs, enlarged ventricles of the brain are a common finding on magnetic resonance imaging (MRI). In humans, enlarged lateral ventricles are usually the consequence of mesencephalic aqueduct stenosis. Cerebrospinal fluid (CSF) velocity measurements indicating obstruction are lacking in dogs.
Sarah Hubler, Christina Precht, Gertraud Schüpbach‐Regula, Veronika M. Stein, Daniela Schweizer   +4 more
wiley   +1 more source

SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct

Journal of Translational Medicine, 2012
Background Many patients with enlarged vestibular aqueduct (EVA) have either only one allelic mutant of the SLC26A4 gene or lack any detectable mutation.
Zhao Jiandong, Yuan Yongyi, Chen Jing, Huang Shasha, Wang Guojian, Han Dongyi, Dai Pu   +6 more
doaj   +1 more source

Compound Heterozygosity for Two Novel Mutations in a Large Iranian Pedigree with Pendred Syndrome [PDF]

Clinical and Experimental Otorhinolaryngology, 2013
ObjectivesThe aim of this study was to detect the genetic cause of deafness in a large Iranian family. Due to the importance of SLC26A4 in causing hearing loss, information about the gene mutations can be beneficial in molecular detection and management ...
Nasrin Yazdanpanahi, Mohammad Amin Tabatabaiefar, Effat Farrokhi, Narges Abdian, Nader Bagheri, Shirin Shahbazi, Zahra Noormohammadi, Morteza Hashemzadeh Chaleshtori   +7 more
doaj   +1 more source

Neural Plasticity and Hearing‐Speech Development in Children with Auditory Brainstem Implants for Congenital Hearing Loss Due to Severe Inner Ear Malformation

Advanced Science, Volume 12, Issue 29, August 7, 2025.
Data from a prospective cohort with 112 auditory brainstem implant users are analyzed. Younger age at implantation (<3 years), less severe inner‐ear malformation (common cavity, cochlear aplasia, and hypoplasia), and more intraoperative eABR evoked electrodes (≥60%) are associated with better hearing and speech outcomes.
Yu Zhang, Yongchuan Chai, Yiwen Zhang, Huan Jia, Zhaoyan Wang, Zhihua Zhang, Zhili Wang, Jie Chen, Xue Wang, Yun Li, Ying Chen, Hao Wu   +11 more
wiley   +1 more source

A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts

Molecular Genetics & Genomic Medicine, 2020
Background Variants in the SLC26A4 gene are correlated with nonsyndromic hearing loss with an enlarged vestibular aqueduct (EVA). This study aimed to identify the genetic causes in a Chinese family with EVA, and the pathogenicity of the detected variants.
Kai Zhou, Lancheng Huang, Menglong Feng, Xinlei Li, Yi Zhao, Fei Liu, Jiazhang Wei, Danxue Qin, Qiutian Lu, Min Shi, Shenhong Qu, Fengzhu Tang   +11 more
doaj   +1 more source

AAVR Expression is Essential for AAV Vector Transduction in Sensory Hair Cells

Advanced Science, Volume 12, Issue 29, August 7, 2025.
Decreased sensitivity to AAV vector transduction in the outer hair cells (OHCs) of adult mice is primarily attributed to reduction of AAVR (Kiaa0319l; Au040320). Knockout of AAVR reduces AAV vector transduction efficiency in both inner hair cells (IHCs) and OHCs in neonatal mice.
Fan Wu, Guisheng Chen, Rui Hu, Peiwen Liu, Jintao Lou, Wenji Zhao, Zuhong He, Suhua Sha, Yiqing Zheng   +8 more
wiley   +1 more source

Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome.

, 2001
Item does not contain fulltextOBJECTIVE: To study the results of petrosal bone imaging and audiometric long-term follow-up of two patients with branchio-oto-renal (BOR) syndrome and relate them to the clinical features, including caloric responses. STUDY
Huygen, P.L.M., Kemperman, M.H., Cremers, C.W.R.J., Joosten, F.B.M., Stinckens, C.I.C., Kumar, S.   +5 more
core   +1 more source

Identifying DNA Variants in a Turkish Cohort with Inner Ear Anomalies

Ear, Nose & Throat Journal
To determine the genetic causes of sensorineural hearing loss (SNHL) associated with inner ear anomalies, 11 unrelated Turkish individuals diagnosed with SNHL and an inner ear anomaly using temporal bone computed tomography and inner ear magnetic ...
Umit Yilmaz MD, Müzeyyen Yildirim Baylan MD, Duygu Duman PhD, Claire Sineni PhD, Güney Bademci PhD, Bilal Sizer MD, Mustafa Tekin MD, PhD   +6 more
doaj   +1 more source