HuGE Literature Finder
Records 1-14
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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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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 genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population.
Clinical genetics 2015 Sep . Moteki Hideaki, Azaiez Hela, Booth Kevin T, Shearer A Eliot, Sloan Christina M, Kolbe Diana L, Nishio Shin-Ya, Hattori Mitsuru, Usami Shin-Ichi, Smith Richard J |
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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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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 |
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Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology.
BMC medical genetics 2015 16 (1): 85. Svidnicki Maria Carolina Costa Melo, Silva-Costa Sueli Matilde, Ramos Priscila Zonzini, Dos Santos Nathalia Zocal Pereira, Martins Fábio Tadeu Arrojo, Castilho Arthur Menino, Sartorato Edi Lúc |
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Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Orphanet journal of rare diseases 2014 9 168. Aparisi María J, Aller Elena, Fuster-García Carla, García-García Gema, Rodrigo Regina, Vázquez-Manrique Rafael P, Blanco-Kelly Fiona, Ayuso Carmen, Roux Anne-Françoise, Jaijo Teresa, Millán José |
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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 |
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- Page last updated:Feb 24, 2021
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