Results 121 to 130 of about 2,727 (206)

Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct. [PDF]

Mol Syndromol, 2022
Cinleti T, Yılmaz Uzman C, Akyol Ş, Tüfekçi Ö, Erçal MD, Giray Bozkaya Ö.   +5 more
europepmc   +1 more source

A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts

Molecular Genetics & Genomic Medicine
Objective We aimed to evaluate the genotype–phenotype relationship in two Chinese family members with enlarged vestibular aqueduct (EVA). Methods We collected blood samples and clinical data from each pedigree family member. Genomic DNA was isolated from
Suyang Wang, Yi‐Ming Zhu, ChenYang Xu, Wenjuan Ding, Hui Jia, Panpan Bian, Baicheng Xu, Yufen Guo, Xiaowen Liu   +8 more
doaj   +1 more source

Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss [PDF]

, 2011
Background: Hearing loss (HL) is the most frequent sensory birth defect in humans. Autosomal recessive non-syndromic HL (ARNSHL) is the most common type of hereditary HL. It is extremely heterogeneous and over 70 loci (known as DFNB) have been identified.
Alasti, Fatemeh., Camp, Guy.Van., Farhud, D.D., Farrokhi, Effat., Hashemzadeh-Chaleshtori, Morteza., Montazer Zohouri, Mostafa., Noori-Daloii, Mohammad Reza., Shariati, Laleh., Tabatabaiefar, Mohammad Amin.   +8 more
core   +3 more sources

The complex interplay of EVA and adolescent-onset hearing loss: a case report

The Egyptian Journal of Otolaryngology
Background Enlarged Vestibular Aqueduct (EVA) presents diagnostic challenges owing to varied clinical manifestations and significant variation in hearing loss (HL) progression, which makes it difficult for clinicians to provide timely advice on HL ...
Reham El Rashidy, Iman Ibrahim, Yahia Labib Mahmoud Eldoky, Hussain Talib Shaban Salman   +3 more
doaj   +1 more source

Retrospective Review of Midpoint Vestibular Aqueduct Size in the 45° Oblique (Pöschl) Plane and Correlation with Hearing Loss in Patients with Enlarged Vestibular Aqueduct. [PDF]

AJNR Am J Neuroradiol, 2021
Bouhadjer K, Tissera K, Farris CW, Juliano AF, Cunnane ME, Curtin HD, Mankarious LA, Reinshagen KL.   +7 more
europepmc   +1 more source

Audio-Vestibular Evaluation of Pediatric Pseudo-Conductive Hearing Loss: Third Window Syndromes [PDF]

Conductive hearing loss caused by external or middle ear problems prevents the transmission of sound waves from the external auditory canal to the cochlea, and it is a common condition, especially in pediatric patients aged 1–5 years.
AYKUL YAĞCIOĞLU, Ayşenur, CÖMERT, Aycan, ERTUĞRUL, Görkem   +2 more
core   +1 more source

Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features. [PDF]

Eur Arch Otorhinolaryngol, 2021
Forli F, Lazzerini F, Auletta G, Bruschini L, Berrettini S.   +4 more
europepmc   +1 more source

Rapid Genetic Diagnosis for Okinawan Patients with Enlarged Vestibular Aqueduct Using Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip. [PDF]

J Clin Med, 2022
Ganaha A, Hishinuma E, Kaname T, Hiratsuka M, Kondo S, Tono T.   +5 more
europepmc   +1 more source

Measurements of endolymphatic K⁺ concentrations in the utricle of pre- and postnatal Slc26a4 Δ/+ and Slc26a4 Δ/Δ mice [PDF]

Master of ScienceDepartment of Anatomy and PhysiologyA. Philine WangemannSLC26A4 and its murine ortholog Slc26a4 code for pendrin, an anion-exchanger that is expressed in the inner ear.
Zhou, Fei
core  

[Correlation of temporal bone HRCT, SLC26A4 gene and hearing loss in enlarged vestibular aqueduct]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2022
Zhao Z, Zhu Y, Fu Y, Jiang H.
europepmc   +1 more source