Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Hearing and ACTG1[original query] |
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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 |
Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing. The Annals of otology, rhinology, and laryngology 2015 May 124 Suppl 1 84S-93S. Miyagawa Maiko, Nishio Shin-Ya, Ichinose Aya, Iwasaki Satoshi, Murata Takaaki, Kitajiri Shin-Ichiro, Usami Shin-Ic |
Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia. Medicina (Kaunas, Lithuania) 2018 10 54 (2): . Plevova Pavlina, Tvrda Petra, Paprskarova Martina, Turska Petra, Kantorova Barbara, Mrazkova Eva, Zapletalova Ja |
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 |
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations. Frontiers in genetics 2019 1 9 681. Morgan Anna, Lenarduzzi Stefania, Cappellani Stefania, Pecile Vanna, Morgutti Marcello, Orzan Eva, Ghiselli Sara, Ambrosetti Umberto, Brumat Marco, Gajendrarao Poornima, La Bianca Martina, Faletra Flavio, Grosso Enrico, Sirchia Fabio, Sensi Alberto, Graziano Claudio, Seri Marco, Gasparini Paolo, Girotto Giorg |
Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss. Scientific reports 2020 4 10 (1): 7056. Miyajima Hiroki, Moteki Hideaki, Day Timothy, Nishio Shin-Ya, Murata Takaaki, Ikezono Tetsuo, Takeda Hidehiko, Abe Satoko, Iwasaki Satoshi, Takahashi Masahiro, Naito Yasushi, Yamazaki Hiroshi, Kanda Yukihiko, Kitajiri Shin-Ichiro, Usami Shin-Ic |
De novo variants are a common cause of genetic hearing loss. Genetics in medicine : official journal of the American College of Medical Genetics 2022 Oct . Klimara Miles J, Nishimura Carla, Wang Donghong, Kolbe Diana L, Schaefer Amanda M, Walls William D, Frees Kathy L, Smith Richard J H, Azaiez He |
Outcomes of cochlear implantation in 75 patients with auditory neuropathy. Frontiers in neuroscience 2023 11 17 1281884. Jie Wu, Jiyue Chen, Zhiwei Ding, Jialin Fan, Qiuquan Wang, Pu Dai, Dongyi H |
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