Human Genome Epidemiology Literature Finder
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Records 1 - 28 (of 28 Records) |
| Query Trace: Deafness and MYO15A[original query] |
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| Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations. Clinical genetics 2015 Jun 87 (6): 588-93. Gu X, Guo L, Ji H, Sun S, Chai R, Wang L, Li |
| 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 |
| Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis. The Annals of otology, rhinology, and laryngology 2015 May 124 Suppl 1 158S-68S. Miyagawa Maiko, Nishio Shin-Ya, Hattori Mitsuru, Moteki Hideaki, Kobayashi Yumiko, Sato Hiroaki, Watanabe Tomoo, Naito Yasushi, Oshikawa Chie, Usami Shin-Ic |
| Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan. The Annals of otology, rhinology, and laryngology 2015 May 124 Suppl 1 49S-60S. Nishio Shin-Ya, Usami Shin-Ic |
| 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 |
| Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family. Iranian journal of basic medical sciences 2016 Jul 19 (7): 772-8. Reiisi Somayeh, Tabatabaiefar Mohammad Amin, Sanati Mohammad Hosein, Chaleshtori Morteza Hashemzad |
| Carrier re-sequencing reveals rare but benign variants in recessive deafness genes. Scientific reports 2017 9 7 (1): 11355. He Longxia, Pang Xiuhong, Chen Penghui, Wang Xiaowen, Yang Tao, Wu H |
| STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2017 10 38 (10): e393-e400. Plevova Pavlina, Paprskarova Martina, Tvrda Petra, Turska Petra, Slavkovsky Rastislav, Mrazkova E |
| Comprehensive Molecular Screening in Chinese Usher Syndrome Patients. Investigative ophthalmology & visual science 2018 Mar 59 (3): 1229-1237. Sun Tengyang, Xu Ke, Ren Yanfan, Xie Yue, Zhang Xiaohui, Tian Lu, Li Ya |
| Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss. BMC medical genetics 2019 4 20 (1): 60. Zhang Jing, Guan Jing, Wang Hongyang, Yin Linwei, Wang Dayong, Zhao Lidong, Zhou Huifang, Wang Qiu |
| 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 |
| Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations in MYO15A as the Probable Cause of Nonsyndromic Deafness in a Chinese Han Family. Neural plasticity 2020 7 2020 6350479. Wang Longhao, Zhao Lin, Peng Hu, Xu Jun, Lin Yun, Yang Tao, Wu H |
| Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss. Clinical genetics 2020 4 98 (1): 32-42. Budde Birgit S, Aly Maha Abdelgaber, Mohamed Mostafa R, Breß Andreas, Altmüller Janine, Motameny Susanne, Kawalia Amit, Thiele Holger, Konrad Kathryn, Becker Christian, Toliat Mohammad R, Nürnberg Gudrun, Sayed Eman Abdel Fattah, Mohamed Enass Sayed, Pfister Markus, Nürnberg Pet |
| [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 |
| Investigation of MYO15A and MYO7A Mutations in Iranian Patients with Nonsyndromic Hearing Loss. Fetal and pediatric pathology 2020 1 40 (2): 121-130. Farjami Mahsa, Fathi Mozhgan, Ghasemi Mohammad Mehdi, Rajati Mohsen, Eslahi Atieh, Alimardani Malihe, Mojarrad Maj |
| 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 |
| 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 |
| Whole exome sequencing of six Chinese families with hereditary non-syndromic hearing loss. International journal of pediatric otorhinolaryngology 2021 7 148 110817. Liang Pengfei, Chen Fengping, Wang Shujuan, Li Qiong, Li Wei, Wang Jian, Chen Jun, Zha Dingj |
| 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 |
| Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes. Orphanet journal of rare diseases 2022 3 17 (1): 114. Mutai Hideki, Momozawa Yukihide, Kamatani Yoichiro, Nakano Atsuko, Sakamoto Hirokazu, Takiguchi Tetsuya, Nara Kiyomitsu, Kubo Michiaki, Matsunaga Tats |
| Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients. BMC medical genomics 2022 3 15 (1): 71. Fu Ying, Huang Shasha, Gao Xue, Han Mingyu, Wang Guojian, Kang Dongyang, Yuan Yongyi, Dai |
| Report of rare and novel mutations in candidate genes in a cohort of hearing-impaired patients. Molecular genetics & genomic medicine 2022 2 10 (4): e1887. Liu Min, Liang Yue, Huang Bixue, Sun Jincangjian, Chen Kaiti |
| 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 |
| Rare sequence variants associated with the risk of non-syndromic biliary atresia. Hepatology research : the official journal of the Japan Society of Hepatology 2023 7 . Satoshi Tamaoka, Akinari Fukuda, Kazuhiko Nakabayashi, Keiko Matsubara, Hiroko Ogata-Kawata, Yuki Muranishi, Kenichiro Hata, Yuko Kato-Fukui, Seisuke Sakamoto, Mureo Kasahara, Maki Fuka |
| 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 |
- Page last reviewed:Feb 1, 2024
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