Records 1 - 30
| Maternally transmitted nonsyndromic hearing impairment may be associated with mitochondrial tRNA
Journal of clinical laboratory analysis 2022 Feb e24298.
Yu Xuejiao, Li Sheng, Ding
| Comparison of the Mutation Spectrum of Common Deafness-Causing Genes in 509 Patients With Nonsyndromic Hearing Loss in 4 Different Areas of China by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry.
The journal of international advanced otology 2021 Nov 17 (6): 492-499.
Wang Yi, Chen Wencheng, Liu Zhizhong, Xing Wen, Zhang Haiy
| Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.
European journal of human genetics : EJHG 2021 Nov .
Adeyemo Adebolajo, Faridi Rabia, Chattaraj Parna, Yousaf Rizwan, Tona Risa, Okorie Samuel, Bharadwaj Thashi, Nouel-Saied Liz M, Acharya Anushree, Schrauwen Isabelle, Morell Robert J, Leal Suzanne M, Friedman Thomas B, Griffith Andrew J, Roux Isabel
| GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.
Journal of clinical laboratory analysis 2021 Sep e24024.
Abbaspour Rodbaneh Ehsan, Panahi Mohammad, Rahimi Bahareh, Mokabber Haleh, Farajollahi Reza, Davarnia Behz
| Genetic Susceptibility Study of Chinese Sudden Sensorineural Hearing Loss Patients with Vertigo.
Current medical science 2021 Aug 41 (4): 673-679.
Gao Yun, Wang Hong-Yang, Guan Jing, Lan Lan, Zhao Cui, Xie Lin-Yi, Wang Da-Yong, Wang Qiu-
| Association Analysis of Candidate Gene Polymorphisms and Tinnitus in Young Musicians.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2021 Jul .
Bhatt Ishan Sunilkumar, Dias Raquel, Torkamani A
| GJB2: Frequency of the Less Common Variants in a Sample of the Portuguese Population.
Acta medica portuguesa 2021 May .
Reis Cláudia Sousa, Santos Ana Cristina, Barros Henrique, Fernandes Susana, Moura Carla Pin
| Genetic testing involving 100 common mutations for antenatal diagnosis of hereditary hearing loss in Chongqing, China.
Medicine 2021 Apr 100 (17): e25647.
Hu Hua, Zhou Peng, Wu Jiayan, Lei Wei, Wang Yang, Yang Ying, Liu Hailia
| Etiology of early hearing loss in Brazilian children.
Brazilian journal of otorhinolaryngology 2021 Mar .
Faistauer Marina, Lang Silva Alice, Félix Têmis Maria, Todeschini de Souza Liliane, Bohn Renata, Selaimen da Costa Sady, Petersen Schmidt Rosito Letíc
| Evaluation of the GJB2 and GJB6 Polymorphisms with Autosomal Recessive Nonsyndromic Hearing Loss in Iranian Population.
Iranian journal of otorhinolaryngology 2021 Mar 33 (115): 79-86.
Ebrahimkhani Somayeh, Asaadi Tehrani Goln
| Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study.
Hong Kong medical journal = Xianggang yi xue za zhi 2021 Feb .
Chan O Y M, Leung T Y, Cao Y, Shi M M, Kwan A H W, Chung J P W, Choy K W, Chong S
| [Analysis of results of concurrent hearing and deafness genetic screening and follow up of 33 911 newborns].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 Jan 38 (1): 32-36.
Lei Jie, Han Luhao, Deng Xi, Long Min, Xiao Yanwei, Lin Xiaowen, Zhang Ji
| Next-generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss.
Molecular genetics & genomic medicine 2020 Oct e1539.
Xiang Yan-Bao, Xu Chen-Yang, Xu Yun-Zhi, Li Huan-Zheng, Zhou Li-Li, Xu Xue-Qin, Chen Zi-Hui, Tang Shao-H
| Novel Variants in Hearing Loss Genes and Associations With Audiometric Thresholds in a Multi-ethnic Cohort of US Patients With Cochlear Implants.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2020 Aug 41 (7): 978-985.
Yoon Patricia J, Sumalde Angelo Augusto M, Ray Dylan C, Newton Stephen, Cass Stephen P, Chan Kenny H, Santos-Cortez Regie Lyn
| Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype.
Journal of human genetics 2020 May .
Cesca Federica, Bettella Elisa, Polli Roberta, Leonardi Emanuela, Aspromonte Maria Cristina, Sicilian Barbara, Stanzial Franco, Benedicenti Francesco, Sensi Alberto, Ciorba Andrea, Bigoni Stefania, Cama Elona, Scimemi Pietro, Santarelli Rosamaria, Murgia Alessand
| The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.
International journal of pediatric otorhinolaryngology 2020 May 136 110143.
Liu Xiao-Wen, Wang Jian-Chao, Wang Su-Yang, Li Shu-Juan, Zhu Yi-Ming, Ding Wen-Juan, Xu Chen-Yang, Duan Lei, Xu Bai-Cheng, Guo Yu-F
| Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families.
Molecular genetics & genomic medicine 2020 Feb e1171.
Pandya Arti, O'Brien Alexander, Kovasala Michael, Bademci Guney, Tekin Mustafa, Arnos Kathleen
| Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.
Orphanet journal of rare diseases 2020 Jan 15 (1): 29.
Yu Xiaoyu, Lin Yun, Xu Jun, Che Tuanjie, Li Lin, Yang Tao, Wu H
| Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2019 Dec .
Ramzan Khushnooda, Al-Owain Mohammed, Al-Numair Nouf S, Afzal Sibtain, Al-Ageel Sarah, Al-Amer Sultan, Al-Baik Lina, Al-Otaibi Ghoson F, Hashem Amal, Al-Mashharawi Eman, Basit Salman, Al-Mazroea Abdal H, Softah Ameen, Sogaty Sameera, Imtiaz Fai
| Genetics of Hereditary Hearing Loss in the Middle East: A Systematic Review of the Carrier Frequency of the GJB2 Mutation (35delG).
Audiology & neuro-otology 2019 Sep 1-5.
| Suspension array-based deafness genetic screening in 53,033 Chinese newborns identifies high prevalence of 109?G>A in GJB2.
International journal of pediatric otorhinolaryngology 2019 Aug 126 109630.
Zou Yu, Dai Qi-Qiang, Tao Wei-Jing, Wen Xiao-Ling, Feng De-Feng, Deng Hua, Zhou Wei-Ping, Li Mi, Zhang Lia
| Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation.
Stem cell research 2019 Jul 40 101524.
Cheng Yen-Fu, Chan Yen-Hui, Hu Chin-Ju, Lu Ying-Chang, Saeki Tsubasa, Hosoya Makoto, Saegusa Chika, Fujioka Masato, Okano Hideyuki, Weng Shih-Ming, Hsu Chuan-Jen, Chang Kuo-Hsuan, Wu Chen-C
| Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China.
The journal of international advanced otology 2019 Jul .
Lin Ying, Yu Feng, Jiao Yuelong, Zhou Fe
| The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions.
International journal of pediatric otorhinolaryngology 2019 Jun 124 157-160.
Talbi Sonia, Bonnet Crystel, Boudjenah Farid, Mansouri Mohammed Tahar, Petit Christine, Ammar Khodja Fati
| Mutation spectrum and hotspots of the common deafness genes in 314 patients with nonsyndromic hearing loss in Heze area, China.
Acta oto-laryngologica 2019 May 1-6.
Zhang Meng, Han Yuechen, Zhang Fengguo, Bai Xiaohui, Wang Hai
| [Application of next generation sequencing for the diagnosis of congenital hearing loss].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 Apr 36 (4): 301-305.
Ren Shumin, Kong Xiangdong, Shi Huirong, Wu Qinghua, Liu Ni
| Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China.
International journal of pediatric otorhinolaryngology 2019 Apr 122 185-190.
Xiang Yan-Bao, Tang Shao-Hua, Li Huan-Zheng, Xu Chen-Yang, Chen Chong, Xu Yun-Zhi, Ding Li-Rong, Xu Xue-Q
| Frequency and clinical features of hearing loss caused by STRC deletions.
Scientific reports 2019 Mar 9 (1): 4408.
Yokota Yoh, Moteki Hideaki, Nishio Shin-Ya, Yamaguchi Tomomi, Wakui Keiko, Kobayashi Yumiko, Ohyama Kenji, Miyazaki Hiromitsu, Matsuoka Rina, Abe Satoko, Kumakawa Kozo, Takahashi Masahiro, Sakaguchi Hirofumi, Uehara Natsumi, Ishino Takashi, Kosho Tomoki, Fukushima Yoshimitsu, Usami Shin-Ic
| A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss.
PloS one 2019 14 (4): e0215212.
Liu Yalan, Hu Chang, Liu Chang, Liu Deyuan, Mei Lingyun, He Chufeng, Jiang Lu, Wu Hong, Chen Hongsheng, Feng Yo
| Excess of Rare Missense Variants in Hearing Loss Genes in Sporadic Meniere Disease.
Frontiers in genetics 2019 10 76.
Gallego-Martinez Alvaro, Requena Teresa, Roman-Naranjo Pablo, Lopez-Escamez Jose