Human Genome Epidemiology Literature Finder
Records 1 - 20 (of 20 Records) |
Query Trace: Hearing 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 |
Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations. Journal of human genetics 2010 Oct 55 (10): 639-48. Mahdieh Nejat, Rabbani Bahareh, Wiley Susan, Akbari Mohammad Taghi, Zeinali Siro |
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 |
Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping platform. BMC medical genetics 2013 14 (1): 112. Martins Fábio Tadeu Arrojo, Ramos Priscila Zonzini, Svidnicki Maria Carolina Costa Melo, Castilho Arthur Menino, Sartorato Edi Lúc |
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 |
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 |
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients. Scientific reports 2017 12 7 (1): 16783. Baux D, Vaché C, Blanchet C, Willems M, Baudoin C, Moclyn M, Faugère V, Touraine R, Isidor B, Dupin-Deguine D, Nizon M, Vincent M, Mercier S, Calais C, García-García G, Azher Z, Lambert L, Perdomo-Trujillo Y, Giuliano F, Claustres M, Koenig M, Mondain M, Roux A |
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 |
Systematic Review of Hearing Loss Genes in the African American Population. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2019 5 40 (5): e488-e496. Worden Cameron P, Jeyakumar Ani |
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 |
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 Sulman, Al-Mazroea Abdal H, Softah Ameen, Sogaty Sameera, Imtiaz Fai |
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 |
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 |
Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss. Scientific reports 2021 11 11 (1): 22488. Pavlenkova Zuzana, Varga Lukas, Borecka Silvia, Karhanek Miloslav, Huckova Miloslava, Skopkova Martina, Profant Milan, Gasperikova Danie |
[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:Apr 22, 2024
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