Results 181 to 190 of about 8,250 (205)

Genetic testing for deafness—GJB2 and SLC26A4 as causes of deafness

Journal of Communication Disorders, 2002
Recent advances in the molecular biology of hearing and deafness are being transferred from the research laboratory to the clinical arena. This transfer of knowledge will enhance patient care by making the diagnosis of hereditary deafness easier; however physicians and audiologists must clearly identify that subset of the deaf and hearing populations ...
Richard J H, Smith, Nathaniel H, Robin
openaire   +2 more sources

Prediction Model for Audiological Outcomes in Patients With GJB2 Mutations

Ear & Hearing, 2019
Objectives: Recessive mutations in GJB2 are the most common genetic cause of sensorineural hearing impairment (SNHI) in humans. SNHI related to GJB2 mutations demonstrates a wide variation in audiological features, and there has been no reliable prediction model for hearing outcomes until now.
Pey-Yu, Chen, Yin-Hung, Lin, Tien-Chen, Liu, Yi-Hsin, Lin, Li-Hui, Tseng, Ting-Hua, Yang, Pei-Lung, Chen, Chen-Chi, Wu, Chuan-Jen, Hsu   +8 more
openaire   +2 more sources

Congenital leukonychia caused by a mutation in GJB2

European Journal of Dermatology, 2021
Rei, Yokoyama, Ryota, Hayashi, Osamu, Ansai, Akito, Hasegawa, Satoru, Shinkuma, Riichiro, Abe   +5 more
openaire   +2 more sources

Cochlear Implantation for Children With GJB2‐Related Deafness

The Laryngoscope, 2004
AbstractObjectives/Hypothesis: Mutations in GJB2 are a common cause of congenital sensorineural hearing loss. Many children with these mutations receive cochlear implants for auditory habilitation. The purpose of the study was to compare the speech perception performance of cochlear implant patients with GJB2‐related deafness to patients without GJB2 ...
Robert D, Cullen, Craig A, Buchman, Carolyn J, Brown, Ben J, Copeland, Carlton, Zdanski, Harold C, Pillsbury, Carol G, Shores   +6 more
openaire   +2 more sources

[GJB2 gene mutation in deaf patients].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2009
To detect the GJB2 gene mutation in patients with autosomal-recessive deafness, and analyze the relationship between clinical phenotype and gene mutation.Forty-two patients were examined clinically by pure tone audiometry, acoustic impedance and auditory brainstem response.
Zhi-yong, Xu, Guo-feng, Gao, Chang, Liu, Yu-hua, Hu, Yi, Lin, Ruan-zhang, Zhang, Ming, Liu, Sha-yan, Wang   +7 more
openaire   +1 more source

Hearing Impairment with Monoallelic GJB2 Variants

The Journal of Molecular Diagnostics, 2021
Yi-Hsin Lin, Ping-Che Wu, Cheng-Yu Tsai, Yin-Hung Lin, Ming-Yu Lo, Shu-Jui Hsu, Pei-Hsuan Lin, Jargalkhuu Erdenechuluun, Hung-Pin Wu, Chuan-Jen Hsu, Chen-Chi Wu, Pei-Lung Chen   +11 more
openaire   +1 more source

Clinical course of hearing and language development in GJB2 and non-GJB2 deafness following habilitation with hearing aids.

Audiology & neuro-otology, 2006
Mutations in the GJB2 gene (connexin 26) are the most common cause of nonsyndromic autosomal recessive sensorineural hearing loss. Genetic testing of GJB2 may offer opportunities to predict the features of hearing loss and prognostication of speech-language development in children with hearing loss.
Tatsuo, Matsunaga, Eiko, Hirota, Seiji, Bito, Seiji, Niimi, Shin-ichi, Usami   +4 more
openaire   +1 more source

Gene symbol: GJB2.

Human genetics, 2007
Tiago, Matos, H, Caria, H, Teixeira, G, Fialho   +3 more
openaire   +3 more sources

Biallelic p.V37I variant in GJB2 is associated with increasing incidence of hearing loss with age

Genetics in Medicine, 2022
Tao Yang, Zhiwu Huang, Hao Wu
exaly  

People also looked at

Frontiers in Oncology, 2022
Changyu Wang, Xue Wu, Lili Guo
exaly