Human Genome Epidemiology Literature Finder
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Records 1 - 26 (of 26 Records) |
| Query Trace: Deafness and MYO7A[original query] |
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| Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Human genetics 2005 Mar 116 (4): 292-9. Ouyang Xiao Mei, Yan Denise, Du Li Lin, Hejtmancik J Fielding, Jacobson Samuel G, Nance Walter E, Li An Ren, Angeli Simon, Kaiser Muriel, Newton Valerie, Brown Steve D M, Balkany Thomas, Liu Xue Zho |
| Identification of novel variants in the Myosin VIIA gene of patients with nonsyndromic hearing loss from Taiwan. International journal of pediatric otorhinolaryngology 2009 Mar . Su MC, Yang JJ, Su CC, Hsin CH, Li SY |
| Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. Orphanet journal of rare diseases 2015 10 (1): 110. Jiang Lichun, Liang Xiaofang, Li Yumei, Wang Jing, Zaneveld Jacques Eric, Wang Hui, Xu Shan, Wang Keqing, Wang Binbin, Chen Rui, Sui Ruifa |
| 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 |
| 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 |
| Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia. Oncotarget 2017 Sep 8 (38): 63324-63332. Wang Pu, Fan Xinmiao, Wang Yibei, Fan Yue, Liu Yaping, Zhang Shuyang, Chen Xiaow |
| Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss. Neural plasticity 2018 8 2018 4920980. Hu Songqun, Sun Feifei, Zhang Jie, Tang Yan, Qiu Jinhong, Wang Zhixia, Zhang Lupi |
| 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 |
| Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis. BioMed research international 2018 3 2018 3103986. Shang Haiqiong, Yan Denise, Tayebi Naeimeh, Saeidi Kolsoum, Sahebalzamani Afsaneh, Feng Yong, Blanton Susan, Liu Xuezho |
| Whole-exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients. Clinical genetics 2019 9 97 (2): 352-356. Zou Songfeng, Mei Xueshuang, Yang Weiqiang, Zhu Rvfei, Yang Tao, Hu Hong |
| Identification of four novel mutations in MYO7A gene and their association with nonsyndromic deafness and Usher Syndrome 1B. International journal of pediatric otorhinolaryngology 2019 3 120 166-172. Li Yunlong, Su Jie, Ding Chao, Yu Fangqing, Zhu Baoshe |
| 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 |
| Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan. Scientific reports 2020 7 10 (1): 11902. Ramzan Memoona, Bashir Rasheeda, Salman Midhat, Mujtaba Ghulam, Sobreira Nara, Witmer P Dane, , Naz Sad |
| The p.R206C Mutation in MYO7A Leads to Autosomal Dominant Nonsyndromic Hearing Loss. ORL; journal for oto-rhino-laryngology and its related specialties 2020 5 82 (4): 181-187. Lu Jiawen, Chen Penghui, Chen Tuanjie, Li Lin, Fu Xiaoli, 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 |
| 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 |
| Single gene variants causing deafness in Asian Indians. Journal of genetics 2021 7 100 . Panigrahi Inusha, Kumari Divya, Anil Kumar B |
| 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 |
| Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families. Neural plasticity 2021 5 2021 5528434. Mei Xueshuang, Zhou Yaqi, Amjad Muhammad, Yang Weiqiang, Zhu Rufei, Asif Muhammad, Hussain Hafiz Muhammad Jafar, Yang Tao, Iqbal Furhan, Hu Hong |
| Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations. Genes 2021 3 12 (2): . Kabahuma Rosemary Ida, Schubert Wolf-Dieter, Labuschagne Christiaan, Yan Denise, Blanton Susan Halloran, Pepper Michael Sean, Liu Xue Zho |
| Targeted next-generation sequencing of deaf patients from Southwestern China. Molecular genetics & genomic medicine 2021 Mar e1660. Li Yunlong, Su Jie, Zhang Jingman, Pei Jiahong, Li Dongmei, Zhang Yinhong, Li Jingyu, Chen Menglang, Zhu Baoshe |
| 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 |
| Clinical Heterogeneity Associated with MYO7A Variants Relies on Affected Domains. Biomedicines 2022 4 10 (4): . Joo Sun Young, Na Gina, Kim Jung Ah, Yoo Jee Eun, Kim Da Hye, Kim Se Jin, Jang Seung Hyun, Yu Seyoung, Kim Hye-Youn, Choi Jae Young, Gee Heon Yung, Jung Jins |
| 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 |
| 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:Oct 1, 2023
- Page last updated:Nov 28, 2023
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