Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 48 Records) |
Query Trace: OTOF[original query] |
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Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients. Scientific reports 2017 12 7 (1): 16783. Baux D, Vaché C, Blanchet C, Willems M, Baudoin C, Moclyn M, Faugère V, Touraine R, Isidor B, Dupin-Deguine D, Nizon M, Vincent M, Mercier S, Calais C, García-García G, Azher Z, Lambert L, Perdomo-Trujillo Y, Giuliano F, Claustres M, Koenig M, Mondain M, Roux A |
Novel OTOF gene mutations identified using a massively parallel DNA sequencing technique in DFNB9 deafness. Acta oto-laryngologica 2018 8 138 (10): 865-870. Wang Yanfei, Lu Yu, Cheng Jing, Zhang Lei, Han Dongyi, Yuan Huij |
Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics. Journal of translational medicine 2018 11 16 (1): 330. Kim Bong Jik, Jang Jeong Hun, Han Jin Hee, Park Hye-Rim, Oh Doo Yi, Lee Seungmin, Kim Min Young, Kim Ah Reum, Lee Chung, Kim Nayoung K D, Park Woong-Yang, Choung Yun-Hoon, Choi Byung Yo |
Targeted next generation sequencing reveals OTOF mutations in auditory neuropathy spectrum disorder. International journal of pediatric otorhinolaryngology 2018 10 115 19-23. Chen Kaitian, Liu Min, Wu Xuan, Zong Ling, Jiang Hongy |
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 |
OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients. PloS one 2019 5 14 (5): e0215932. Iwasa Yoh-Ichiro, Nishio Shin-Ya, Sugaya Akiko, Kataoka Yuko, Kanda Yukihiko, Taniguchi Mirei, Nagai Kyoko, Naito Yasushi, Ikezono Tetsuo, Horie Rie, Sakurai Yuika, Matsuoka Rina, Takeda Hidehiko, Abe Satoko, Kihara Chiharu, Ishino Takashi, Morita Shin-Ya, Iwasaki Satoshi, Takahashi Masahiro, Ito Tsukasa, Arai Yasuhiro, Usami Shin-Ic |
Systematic Review of Hearing Loss Genes in the African American Population. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2019 5 40 (5): e488-e496. Worden Cameron P, Jeyakumar Ani |
[Mutational analysis of 117 patients with non-syndromic hearing loss]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 2 36 (2): 108-111. Wang Leilei, Gu Ying, Yang Shuting, Mao Huafen, Tang Xinxin, Xu Tianlong, Wu Min, Sun Yuhua, Luo Xiuc |
[OTOF-related auditory neuropathy spectrum disorder]. Vestnik otorinolaringologii 2020 6 85 (2): 21-25. Lalayants M R, Mironovich O L, Bliznets E A, Markova T G, Polyakov A V, Tavartkiladze G |
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 |
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 |
Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan. Human genetics 2021 9 141 (3-4): 865-875. Iwasa Yoh-Ichiro, Nishio Shin-Ya, Yoshimura Hidekane, Sugaya Akiko, Kataoka Yuko, Maeda Yukihide, Kanda Yukihiko, Nagai Kyoko, Naito Yasushi, Yamazaki Hiroshi, Ikezono Tetsuo, Matsuda Han, Nakai Masako, Tona Risa, Sakurai Yuika, Motegi Remi, Takeda Hidehiko, Kobayashi Marina, Kihara Chiharu, Ishino Takashi, Morita Shin-Ya, Iwasaki Satoshi, Takahashi Masahiro, Furutate Sakiko, Oka Shin-Ichiro, Kubota Toshinori, Arai Yasuhiro, Kobayashi Yumiko, Kikuchi Daisuke, Shintani Tomoko, Ogasawara Noriko, Honkura Yohei, Izumi Shuji, Hyogo Misako, Ninoyu Yuzuru, Suematsu Mayumi, Nakayama Jun, Tsuchihashi Nana, Okami Mayuri, Sakata Hideaki, Yoshihashi Hiroshi, Kobayashi Taisuke, Kumakawa Kozo, Yoshida Tadao, Esaki Tomoko, Usami Shin-Ic |
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study. Human genetics 2021 8 141 (3-4): 853-863. Thorpe Ryan K, Azaiez Hela, Wu Peina, Wang Qiuju, Xu Lei, Dai Pu, Yang Tao, Schaefer G Bradley, Peters B Robert, Chan Kenny H, Schatz Krista S, Bodurtha Joann, Robin Nathaniel H, Hirsch Yoel, Rahbeeni Zuhair Abdalla, Yuan Huijun, Smith Richard J |
Genetic Susceptibility Study of Chinese Sudden Sensorineural Hearing Loss Patients with Vertigo. Current medical science 2021 Aug 41 (4): 673-679. Gao Yun, Wang Hong-Yang, Guan Jing, Lan Lan, Zhao Cui, Xie Lin-Yi, Wang Da-Yong, Wang Qiu- |
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 |
Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population. Journal of advanced research 2021 7 31 13-24. Souissi Amal, Ben Said Mariem, Ben Ayed Ikhlas, Elloumi Ines, Bouzid Amal, Mosrati Mohamed Ali, Hasnaoui Mehdi, Belcadhi Malek, Idriss Nabil, Kamoun Hassen, Gharbi Nourhene, Gibriel Abdullah A, Tlili Abdelaziz, Masmoudi Sab |
Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity. Frontiers in genetics 2021 6 12 641925. Fareed Mohd, Sharma Varun, Singh Inderpal, Rehman Sayeed Ur, Singh Gurdarshan, Afzal Mohamm |
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 |
Correction to: Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan. Human genetics 2021 11 141 (3-4): 993-995. Iwasa Yoh-Ichiro, Nishio Shin-Ya, Yoshimura Hidekane, Sugaya Akiko, Kataoka Yuko, Maeda Yukihide, Kanda Yukihiko, Nagai Kyoko, Naito Yasushi, Yamazaki Hiroshi, Ikezono Tetsuo, Matsuda Han, Nakai Masako, Tona Risa, Sakurai Yuika, Motegi Remi, Takeda Hidehiko, Kobayashi Marina, Kihara Chiharu, Ishino Takashi, Morita Shin-Ya, Iwasaki Satoshi, Takahashi Masahiro, Furutate Sakiko, Oka Shin-Ichiro, Kubota Toshinori, Arai Yasuhiro, Kobayashi Yumiko, Kikuchi Daisuke, Shintani Tomoko, Ogasawara Noriko, Honkura Yohei, Izumi Shuji, Hyogo Misako, Ninoyu Yuzuru, Suematsu Mayumi, Nakayama Jun, Tsuchihashi Nana, Okami Mayuri, Sakata Hideaki, Yoshihashi Hiroshi, Kobayashi Taisuke, Kumakawa Kozo, Yoshida Tadao, Esaki Tomoko, Usami Shin-Ic |
Molecular diagnose of a large hearing loss population from China by targeted genome sequencing. Journal of human genetics 2022 8 67 (11): 643-649. Wu Jie, Cao Zongfu, Su Yu, Wang Yang, Cai Ruikun, Chen Jiyue, Gao Bo, Han Mingyu, Li Xiaohong, Zhang DeJun, Gao Xue, Huang Shasha, Huang Quanfei, Yuan Yongyi, Ma Xu, Dai |
Genomic and immunological profiles of small-cell lung cancer between East Asians and Caucasian. Cancer cell international 2022 4 22 (1): 173. Lin Anqi, Zhou Ningning, Zhu Weiliang, Zhang Jiexia, Wei Ting, Guo Linlang, Luo Peng, Zhang Ji |
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 |
Genetic profiles of non-syndromic severe-profound hearing loss in Chinese Hans by whole-exome sequencing. Gene 2022 2 819 146258. Liu Ya, Tan Meihua, Cai Luhang, Lv Lihui, Chen Qingqing, Chen Wei, Yang Hang, Xu Yapi |
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 etiological analysis of auditory neuropathy spectrum disorder by next-generation sequencing. Frontiers in neurology 2022 12 13 1026695. Sun Lianhua, Lin Zhengyu, Zhang Jifang, Shen Jiali, Wang Xiaowen, Yang J |
Association of R1939W and P1987R variants of Otoferlin (OTOF) gene with severe to profound nonsyndromic sensorineural hearing loss in Pakistani subjects. Pakistan journal of medical sciences 2023 9 39 (5): 1456-1461. Hammael Naseer, Amir Rashid, Asifa Majeed, Zunaira Ali Ba |
Preservation of Distortion Product Otoacoustic Emissions in OTOF-Related Hearing Impairment. Ear and hearing 2023 9 . Rosamaria Santarelli, Pietro Scimemi, Elona Cama, María Domínguez-Ruiz, Chiara Bonora, Chiara Gallo, Montserrat Rodríguez-Ballesteros, Ignacio Del Castil |
Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families. Human genomics 2023 5 17 (1): 42. Maria Asaad, Mona Mahfood, Abdullah Al Mutery, Abdelaziz Tli |
Intronic OTOF mutation causes an atypical splicing defect resulting in auditory neuropathy spectrum disorder. Journal of genetics 2023 3 102 . Mohammadi Sanaz, Khamirani Hossein Jafari, Zoghi Sina, Dastgheib Seyed Alireza, Bagher Tabei Seyed Mohammad, Talebzadeh Mahdieh, Adibi Mohammad Hossein, Dianatpour Meh |
Effects of copy number variations on longevity in late-onset Alzheimer's disease patients: insights from a causality network analysis. Frontiers in aging neuroscience 2023 11 15 1241412. Yanan Hao, Chuhao Li, He Wang, Chen Mi |
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- Page last updated:Apr 22, 2024
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