Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 85 Records) |
Query Trace: GJB3[original query] |
---|
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 |
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 |
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 |
[Analysis of GJB2, SLC26A4, GJB3 and 12S rRNA gene mutations among patients with nonsyndromic hearing loss from eastern Shandong]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 4 36 (5): 433-438. Sun Shiyu, Niu Linyuan, Tian Jinjun, Chen Wei, Li Yanna, Xia Ningning, Jyu Caining, Chen Xiaoli, Zhang Chunxiao, Lan Xinqia |
The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas. The journal of international advanced otology 2019 12 15 (3): 373-378. Küçük Kurtulgan Hande, Altunta? Emine Elif, Y?ld?r?m Malik Ejder, Özdemir Öztürk, Ba?c? Binnur, Sezgin ?lh |
Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China. American journal of human genetics 2019 10 105 (4): 803-812. Dai Pu, Huang Li-Hui, Wang Guo-Jian, Gao Xue, Qu Chun-Yan, Chen Xiao-Wei, Ma Fu-Rong, Zhang Jie, Xing Wan-Li, Xi Shu-Yan, Ma Bin-Rong, Pan Ying, Cheng Xiao-Hua, Duan Hong, Yuan Yong-Yi, Zhao Li-Ping, Chang Liang, Gao Ru-Zhen, Liu Hai-Hong, Zhang Wei, Huang Sha-Sha, Kang Dong-Yang, Liang Wei, Zhang Ke, Jiang Hong, Guo Yong-Li, Zhou Yi, Zhang Wan-Xia, Lyu Fan, Jin Ying-Nan, Zhou Zhen, Lu Hong-Li, Zhang Xin, Liu Ping, Ke Jia, Hao Jin-Sheng, Huang Hai-Meng, Jiang Di, Ni Xin, Long Mo, Zhang Luo, Qiao Jie, Morton Cynthia Casson, Liu Xue-Zhong, Cheng Jing, Han De-M |
[Analysis of prenatal phenotype and pathogenetic variant in a fetus with Papillorenal syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 8 37 (9): 958-961. Zhao Xiang, Yang Dan, Jia Yumin, Shou Yanling, Wang Liming, Wang Xiangzhi, Fu Jiena, Guo Huafeng, Zhao Jianping, Yin Hao, Zhang Xueyan, Zhu Xiwei, Gao Lijuan, Ma Chaojie, Xie Zedan, Shi M |
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 |
Combined hearing screening and genetic screening of deafness among Hakka newborns in China. International journal of pediatric otorhinolaryngology 2020 6 136 110120. Zeng Xiangxing, Liu Zhifang, Wang Jing, Zeng Xianlia |
[Sequencing of 100 common variation sites of 18 deafness susceptibility genes among 16 182 individuals from Dongguan]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Apr 37 (4): 373-377. Zhang Bashan, Li Chan, Zhu Zhinian, Ding Aijiao, Liu Yuanru, Lei W |
Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden. Life (Basel, Switzerland) 2020 10 10 (11): . Adadey Samuel Mawuli, Wonkam-Tingang Edmond, Twumasi Aboagye Elvis, Nayo-Gyan Daniel Wonder, Boatemaa Ansong Maame, Quaye Osbourne, Awandare Gordon A, Wonkam Ambroi |
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 |
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 |
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- |
Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China. Frontiers in genetics 2021 12 637096. Cai Luhang, Liu Ya, Xu Yaping, Yang Hang, Lv Lihui, Li Yang, Chen Qiongqiong, Lin Xiaojiang, Yang Yihui, Hu Guangwei, Zheng Guofeng, Zhou Jing, Qian Qiyong, Xu Mei-Ai, Fang Jin, Ding Jianjun, Chen Wei, Gao Jio |
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 |
Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran. Iranian journal of public health 2021 3 49 (11): 2128-2135. Aliazami Farnoush, Farhud Dariush, Zarif-Yeganeh Marjan, Salehi Siamak, Hosseinipour Azam, Sasanfar Roxana, Eslami Mary |
Molecular screening of patients with profound hearing loss from Chengdu, China. Acta oto-laryngologica 2021 12 142 (1): 57-60. Dai Qingqing, Dai Wei, Wang Dan, Liu Xia, Zou Ling, Chen Jiani, Zheng Hong, Duan Mao |
Pregestational screening of hereditary deafness genes carriers in 10,684 normal pregnant women in Zhuzhou, China. Birth defects research 2021 Jan . Qi Mingming, Lai Huimin, Xu Lili, Zeng Fanhua, Zhang Jing, Xie Kai |
[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 |
The Frequency of Common Deafness-Associated Variants Among 3,555,336 Newborns in China and 141,456 Individuals Across Seven Populations Worldwide. Ear and hearing 2022 Sep . Zhang Jiao, Wang Hongyang, Yan Chengbin, Guan Jing, Yin Linwei, Lan Lan, Li Jin, Zhao Lijian, Wang Qiu |
Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study. Cytogenetic and genome research 2022 5 162 (1-2): 1-9. Reis Cláudia Sousa, Quental Sofia, Fernandes Susana, Castedo Sérgio, Moura Carla Pin |
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 |
[Genetic analysis of a Chinese pedigree featuring non-simplex blepharocheilodontic syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 12 40 (1): 36-41. Yan Lulu, Liu Yingwen, Zhang Yuxin, Tian Liyun, Cao Juan, Li Hai |
Concurrent newborn hearing and genetic screening of common hearing loss variants with bloodspot-based targeted next generation sequencing in Jiangxi province. Frontiers in pediatrics 2022 11 10 1020519. Luo Haiyan, Yang Yan, Wang Xinrong, Xu Fangping, Huang Cheng, Liu Danping, Zhang Liuyang, Huang Ting, Ma Pengpeng, Lu Qing, Huang Shuhui, Yang Bicheng, Zou Yongyi, Liu Yanq |
[A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 641-647. Danyan Zhuang, Fei Wang, Shuxia Ding, Zhoushu Zheng, Qi Yu, Lanqiu Lyu, Shuni Sun, Rulai Yang, Wenwen Que, Haibo |
Optimized concurrent hearing and genetic screening in Beijing, China: A cross-sectional study. Bioscience trends 2023 4 . Wen Cheng, Yang Xiaozhe, Cheng Xiaohua, Zhang Wei, Li Yichen, Wang Jing, Wang Chuan, Ruan Yu, Zhao Liping, Lu Hongli, Li Yingxin, Bai Yue, Yu Yiding, Li Yue, Xie Jinge, Qi Bei-Er, En Hui, Liu Hui, Fu Xinxing, Huang Lihui, Han Dem |
Genetic screening of 15 hearing loss variants in 77,647 neonates with clinical follow-up. Molecular genetics & genomic medicine 2023 12 e2324. Lin Kun, Huang Jiexiang, Lin Hua, Han Junlin, Ruan Yijun, Zhang Lixian, Chen Mingqi |
A novel method for detecting nine hotspot mutations of deafness genes in one tube. Scientific reports 2024 1 14 (1): 454. Yang Yu, Jun Zhang, Yuxia Zhan, Guanghua L |
Analysis of deafness susceptibility gene of neonates in northern Guangdong, China. Scientific reports 2024 1 14 (1): 362. Zhanzhong Ma, Wenbo Huang, Jing Xu, Jianwu Qiu, Yulan Liu, Meixian Ye, Shushu F |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: