Human Genome Epidemiology Literature Finder
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Records 1 - 27 (of 27 Records) |
| Query Trace: Deafness and OTOF[original query] |
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| A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. Human mutation 2008 Jun 29 (6): 823-31. Rodríguez-Ballesteros Montserrat, Reynoso Raúl, Olarte Margarita, Villamar Manuela, Morera Constantino, Santarelli Rosamaria, Arslan Edoardo, Medá Carme, Curet Carlos, Völter Christiane, Sainz-Quevedo Manuel, Castorina Pierangela, Ambrosetti Umberto, Berrettini Stefano, Frei Klemens, Tedín Socorro, Smith Janine, Cruz Tapia M, Cavallé Laura, Gelvez Nancy, Primignani Paola, Gómez-Rosas Elena, Martín Mirta, Moreno-Pelayo Miguel A, Tamayo Martalucía, Moreno-Barral José, Moreno Felipe, del Castillo Ignac |
| GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population. Audiology & neuro-otology 2010 15 (3): 194-202. Dalamón Viviana, Lotersztein Vanesa, Béhèran Agustina, Lipovsek Marcela, Diamante Fernando, Pallares Norma, Francipane Liliana, Frechtel Gustavo, Paoli Bibiana, Mansilla Enrique, Diamante Vicente, Elgoyhen Ana Bel |
| Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy. BMC medical genetics 2010 11 (1): 79. Wang Da-Yong, Wang Yi-Chen, Weil Dominique, Zhao Ya-Li, Rao Shao-Qi, Zong Liang, Ji Yu-Bin, Liu Qiong, Li Jian-Qiang, Yang Huan-Ming, Shen Yan, Benedict-Alderfer Cindy, Zheng Qing-Yin, Petit Christine, Wang Qiu- |
| Genetic characteristics in children with cochlear implants and the corresponding auditory performance. The Laryngoscope 2011 Jun 121 (6): 1287-93. Wu Chen-Chi, Liu Tien-Chen, Wang Shih-Hao, Hsu Chuan-Jen, Wu Che-Mi |
| OTOF mutation screening in Japanese severe to profound recessive hearing loss patients. BMC medical genetics 2013 Sep 14 (1): 1. Iwasa YI, Nishio SY, Yoshimura H, Kanda Y, Kumakawa K, Abe S, Naito Y, Nagai K, Usami SI |
| 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 |
| 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 |
| Refinement of Molecular Diagnostic Protocol of Auditory Neuropathy Spectrum Disorder: Disclosure of Significant Level of Etiologic Homogeneity in Koreans and Its Clinical Implications. Medicine 2015 Nov 94 (47): e1996. Chang Mun Young, Kim Ah Reum, Kim Nayoung K D, Lee Chung, Park Woong-Yang, Choi Byung Yo |
| 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 |
| Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population. The application of clinical genetics 2016 9 141-6. Fedick Anastasia M, Jalas Chaim, Swaroop Ananya, Smouha Eric E, Webb Bryn |
| Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia). PloS one 2016 11 (4): e0153841. ?hurbanov Alexander Y, Karafet Tatiana M, Morozov Igor V, Mikhalskaia Valeriia Yu, Zytsar Marina V, Bondar Alexander A, Posukh Olga |
| Outcome of Cochlear Implantation in Prelingually Deafened Children According to Molecular Genetic Etiology. Ear and hearing 2017 8 38 (5): e316-e324. Park Joo Hyun, Kim Ah Reum, Han Jin Hee, Kim Seong Dong, Kim Shin Hye, Koo Ja-Won, Oh Seung Ha, Choi Byung Yo |
| 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 |
| 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 |
| [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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Whole Exome Sequencing of Non-Syndromic Hearing Loss Patients. Iranian journal of public health 2024 6 53 (2): 453-461. Hossein Naddafnia, Zahra Noormohammadi, Shiva Irani, Iman Salahshoorif |
| [The updates of the ACMG variant interpretation guidelines affect the pathogenicity determination of OTOF gene variations in patients with auditory neuropathy]. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2024 5 59 (5): 455-463. K L Wu, J Li, H Y Wang, Q J Wa |
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