Human Genome Epidemiology Literature Finder
Records 1 - 17 (of 17 Records) |
Query Trace: Deafness and TMC1[original query] |
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Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. Human mutation 2005 Jan 25 (1): 100. Meyer Christian G, Gasmelseed Nagla M, Mergani Adil, Magzoub Mubarak M A, Muntau Birgit, Thye Thorsten, Horstmann Rolf |
The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians. Genetic testing and molecular biomarkers 2012 Jan . Searle C, Mavrogiannis LA, Bennett CP, Charlton RS |
Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss. Journal of translational medicine 2014 12 (1): 311. Wei Qinjun, Zhu Hongmei, Qian Xuli, Chen Zhibin, Yao Jun, Lu Yajie, Cao Xin, Xing Guangqi |
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Jul . Bademci Guney, Foster Joseph, Mahdieh Nejat, Bonyadi Mortaza, Duman Duygu, Cengiz F Basak, Menendez Ibis, Diaz-Horta Oscar, Shirkavand Atefeh, Zeinali Sirous, Subasioglu Asli, Tokgoz-Yilmaz Suna, Huesca-Hernandez Fabiola, de la Luz Arenas-Sordo Maria, Dominguez-Aburto Juan, Hernandez-Zamora Edgar, Montenegro Paola, Paredes Rosario, Moreta Germania, Vinueza Rodrigo, Villegas Franklin, Mendoza-Benitez Santiago, Guo Shengru, Bozan Nazim, Tos Tulay, Incesulu Armagan, Sennaroglu Gonca, Blanton Susan H, Ozturkmen-Akay Hatice, Yildirim-Baylan Muzeyyen, Tekin Musta |
Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing. Molecular genetics & genomic medicine 2015 May 3 (3): 189-96. Ammar-Khodja Fatima, Bonnet Crystel, Dahmani Malika, Ouhab Sofiane, Lefèvre Gaelle M, Ibrahim Hassina, Hardelin Jean-Pierre, Weil Dominique, Louha Malek, Petit Christi |
Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss. American journal of medical genetics. Part A 2015 Oct 167 (10): 2357-65. Gao Xue, Huang Sha-Sha, Yuan Yong-Yi, Wang Guo-Jian, Xu Jin-Cao, Ji Yu-Bin, Han Ming-Yu, Yu Fei, Kang Dong-Yang, Lin Xi, Dai |
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss. PloS one 2015 10 (11): e0142154. Atik Tahir, Onay Huseyin, Aykut Ayca, Bademci Guney, Kirazli Tayfun, Tekin Mustafa, Ozkinay Fer |
Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes. Hereditas 2017 12 154 16. Olsson K Sigvard, Wålinder Olof, Jansson Ulf, Wilbe Maria, Bondeson Marie-Louise, Stattin Eva-Lena, Raha-Chowdhury Ruma, Williams Rog |
Mutation spectra and founder effect of TMC1 in patients with non-syndromic deafness in Xiamen area, China. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2018 3 177 (3): 301-307. Jiang Yi, Gao Song, Wu Lihua, Jin Xiaohua, Deng Tao, Wang Ligang, Huang Shasha, Gao Xue, Chen Juan, Han Dongyi, Gao Huafang, Dai |
Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population. Scientific reports 2019 Feb 9 (1): 1604. Han Jae Joon, Nguyen Pham Dinh, Oh Doo-Yi, Han Jin Hee, Kim Ah-Reum, Kim Min Young, Park Hye-Rim, Tran Lam Huyen, Dung Nguyen Huu, Koo Ja-Won, Lee Jun Ho, Oh Seung Ha, Anh Vu Hoang, Choi Byung Yo |
Mutation screening in non-syndromic hearing loss patients with cochlear implantation by massive parallel sequencing in Taiwan. PloS one 2019 1 14 (1): e0211261. Liu Wei-Hsiu, Chang Pi-Yueh, Chang Shih-Cheng, Lu Jang-Jih, Wu Che-Mi |
[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 |
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 |
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 |
[Analysis of TMC1 gene variants and prenatal diagnosis in four Chinese families affected with deafness]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 1 38 (1): 37-41. Ren Shumin, Chen Chen, Kong Xiangdo |
Molecular etiology study of hearing loss in 13 Chinese Han families. Frontiers in neurology 2022 12 13 1048218. Sun Lianhua, Lin Zhengyu, Wang Xiaowen, Shen Jiali, Li Yue, Huang Yuyu, Yang J |
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel. Human genomics 2023 1 17 (1): 1. Ma Jing, Ma Xiuli, Lin Ken, Huang Rui, Bi Xianyun, Ming Cheng, Li Li, Li Xia, Li Guo, Zhao Liping, Yang Tao, Gao Yingqin, Zhang Tieso |
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- Page last updated:Mar 25, 2024
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