HuGE Literature Finder
Records 1-13
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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 |
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[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 |
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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 |
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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 |
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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 |
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Deafness genes in families with non-syndromic hearing loss in Shandong, China: a genetic study.
Lancet (London, England) 2016 Oct 388 Suppl 1 S80. Bai Xiaohui, Xu Lei, Zhang Fengguo, Xiao Yun, Li Jianfeng, Wang Hai |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
- Page last reviewed:Oct 1, 2020
- Page last updated:Feb 24, 2021
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