HuGE Literature Finder
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| 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- |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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- |
| 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 |
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- Page last updated:Jun 28, 2022
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