Records 1 - 10
| 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
| [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
| 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
| 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 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
| 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
| 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
| 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
| 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