Human Genome Epidemiology Literature Finder
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Records 1 - 23 (of 23 Records) |
| Query Trace: Hearing Loss and WFS1[original query] |
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| [Heterogeneous mutations of Wolfram syndrome I gene responsible for low frequency nonsyndromic hearing loss]. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2006 1 40 (10): 764-8. Liu Yu-he, Ke Xiao-mei, Xiao Shui-fa |
| GJB2 mutations in patients with nonsyndromic hearing loss from Croatia. Genetic testing and molecular biomarkers 2009 Oct 13 (5): 693-9. Sansovi? Ivona, Knezevi? Jelena, Musani Vesna, Seeman Pavel, Barisi? Ingeborg, Paveli? Jasmin |
| A predictive model of the association between gene polymorphism and the risk of noise-induced hearing loss caused by gunfire noise. Journal of the Chinese Medical Association : JCMA 2012 Jan 75 (1): 36-9. Yuan Ben-Chih, Su Feng-Ming, Wu Wen-Tung, Liu Wen-Sheng, Chiu Kuo-Hs |
| 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 |
| WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity. Ophthalmology 2016 Jul . Grenier Joanna, Meunier Isabelle, Daien Vincent, Baudoin Corinne, Halloy François, Bocquet Béatrice, Blanchet Catherine, Delettre Cécile, Esmenjaud Etienne, Roubertie Agathe, Lenaers Guy, Hamel Christian |
| Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family. International journal of pediatric otorhinolaryngology 2017 8 100 1-7. Niu Zhijie, Feng Yong, Hu Zhengmao, Li Jiada, Sun Jie, Chen Hongsheng, He Chufeng, Wang Xueping, Jiang Lu, Liu Yalan, Cai Xinzhang, Wang Lili, Cai Yuxiang, Liu Xuezhong, Mei Lingy |
Variants in WFS1 and Other Mendelian Deafness Genes Are Associated with Cisplatin-Associated Ototoxicity.
Clinical cancer research : an official journal of the American Association for Cancer Research 2016 Dec . Wheeler Heather E, Gamazon Eric R, Frisina Robert D, Perez-Cervantes Carlos, El Charif Omar, Mapes Brandon, Fossa Sophie D, Feldman Darren R, Hamilton Robert J, Vaughn David J, Beard Clair J, Fung Chunkit, Kollmannsberger Christian, Kim Jeri, Mushiroda Taisei, Kubo Michiaki, Ardeshir-Rouhani-Fard Shirin, Einhorn Lawrence H, Cox Nancy J, Dolan M Eileen, Travis Lois |
| WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis. PloS one 2018 3 13 (3): e0193359. Kobayashi Masafumi, Miyagawa Maiko, Nishio Shin-Ya, Moteki Hideaki, Fujikawa Taro, Ohyama Kenji, Sakaguchi Hirofumi, Miyanohara Ikuyo, Sugaya Akiko, Naito Yasushi, Morita Shin-Ya, Kanda Yukihiko, Takahashi Masahiro, Ishikawa Kotaro, Nagano Yuki, Tono Tetsuya, Oshikawa Chie, Kihara Chiharu, Takahashi Haruo, Noguchi Yoshihiro, Usami Shin-Ic |
| Whole exome sequencing identifies a pathogenic mutation in WFS1 in two large Chinese families with autosomal dominant all-frequency hearing loss and prenatal counseling. International journal of pediatric otorhinolaryngology 2018 Mar 106 113-119. Cheng Hongbo, Zhang Qin, Wang Wenbin, Meng Qingxia, Wang Fuxin, Liu Minjuan, Mao Jun, Shi Yichao, Wang Wei, Li Ho |
| Further Investigation of the Role of ACYP2 and WFS1 Pharmacogenomic Variants in the Development of Cisplatin-Induced Ototoxicity in Testicular Cancer Patients. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 1 24 (8): 1866-1871. Drögemöller Britt I, Brooks Beth, Critchley Carol, Monzon José G, Wright Galen E B, Liu Geoffrey, Renouf Daniel J, Kollmannsberger Christian K, Bedard Philippe L, Hayden Michael R, Gelmon Karen A, Carleton Bruce C, Ross Colin J |
| Association of candidate pharmacogenetic markers with platinum-induced ototoxicity: PanCareLIFE dataset. Data in brief 2020 9 32 106227. Langer Thorsten, Clemens Eva, Broer Linda, Maier Lara, Uitterlinden André G, de Vries Andrica C H, van Grotel Martine, Pluijm Saskia F M, Binder Harald, Mayer Benjamin, von dem Knesebeck Annika, Byrne Julianne, van Dulmen-den Broeder Eline, Crocco Marco, Grabow Desiree, Kaatsch Peter, Kaiser Melanie, Spix Claudia, Kenborg Line, Winther Jeanette F, Rechnitzer Catherine, Hasle Henrik, Kepak Tomas, van der Kooi Anne-Lotte F, Kremer Leontien C, Kruseova Jarmila, Bielack Stefan, Sorg Benjamin, Hecker-Nolting Stefanie, Kuehni Claudia E, Ansari Marc, Kompis Martin, van der Pal Heleen J, Parfitt Ross, Deuster Dirk, Matulat Peter, Tillmanns Amelie, Tissing Wim J E, Beck Jörn D, Elsner Susanne, Am Zehnhoff-Dinnesen Antoinette, van den Heuvel-Eibrink Marry M, Zolk Oliver, |
| Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss. Molecular genetics & genomic medicine 2020 6 8 (8): e1367. Guan Jing, Wang Hongyang, Lan Lan, Wu Yusen, Chen Guohui, Zhao Cui, Wang Dayong, Wang Qiu |
| A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations. Human genetics 2020 5 139 (10): 1315-1323. Walls W Daniel, Moteki Hideaki, Thomas Taylor R, Nishio Shin-Ya, Yoshimura Hidekane, Iwasa Yoichiro, Frees Kathy L, Nishimura Carla J, Azaiez Hela, Booth Kevin T, Marini Robert J, Kolbe Diana L, Weaver A Monique, Schaefer Amanda M, Wang Kai, Braun Terry A, Usami Shin-Ichi, Barr-Gillespie Peter G, Richardson Guy P, Smith Richard J, Casavant Thomas |
| Single gene variants causing deafness in Asian Indians. Journal of genetics 2021 7 100 . Panigrahi Inusha, Kumari Divya, Anil Kumar B |
| Identification of a Novel WFS1 Mutation Using the Whole Exome Sequencing in an Iranian Pedigree with Autosomal Dominant Hearing Loss. Iranian journal of otorhinolaryngology 2021 7 33 (116): 173-176. Mohammadi-Asl Javad, Saki Nader, Dehdashtiyan Masoud, Neissi Mostafa, Ghanbari Mardasi Farid |
| Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype. BioMed research international 2021 7 2021 6624744. Li Jinying, Xu Hongen, Sun Jianfeng, Tian Yongan, Liu Danhua, Qin Yaping, Liu Huanfei, Li Ruijun, Neng Lingling, Deng Xiaohua, Xue Binbin, Yu Changyun, Tang Wenx |
| Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria. European journal of human genetics : EJHG 2021 Nov . Adeyemo Adebolajo, Faridi Rabia, Chattaraj Parna, Yousaf Rizwan, Tona Risa, Okorie Samuel, Bharadwaj Thashi, Nouel-Saied Liz M, Acharya Anushree, Schrauwen Isabelle, Morell Robert J, Leal Suzanne M, Friedman Thomas B, Griffith Andrew J, Roux Isabel |
| Comprehensive Genetic Analysis Unraveled the Missing Heritability in a Chinese Cohort With Wolfram Syndrome 1: Clinical and Genetic Findings. Investigative ophthalmology & visual science 2022 Sep 63 (10): 9. Zhang Xin, Xie Yue, Xu Ke, Chang Haoyu, Zhang Xiaohui, Li Ya |
| Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome. Ophthalmic genetics 2022 4 43 (4): 567-572. Mair Hailey, Fowler Nicholas, Papatzanaki Maria E, Sudhakar Padmaja, Maldonado Ramiro |
| Novel WFS1 mutations in patients with low-to-middle frequency hearing loss. International journal of pediatric otorhinolaryngology 2023 3 167 111484. Guo Luo, Gu Xiaodong, Sun Qin, Zhang Yike, Li Huawei, Du Qia |
| Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related Disorders. medRxiv : the preprint server for health sciences 2023 2 . Lee Evan M, Verma Megha, Palaniappan Nila, Pope Emiko M, Lee Sammie, Blacher Lindsey, Neerumalla Pooja, An William, Campbell Toko, Brown Cris, Hurst Stacy, Marshall Bess, Hershey Tamara, Nunes Virginia, de Heredia Miguel López, Urano Fumihi |
| Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel. Human genomics 2023 1 17 (1): 1. Ma Jing, Ma Xiuli, Lin Ken, Huang Rui, Bi Xianyun, Ming Cheng, Li Li, Li Xia, Li Guo, Zhao Liping, Yang Tao, Gao Yingqin, Zhang Tieso |
| Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene. Genes 2023 1 14 (1): . Riza Anca-Lelia, Alkhzouz Camelia, Farca? Marius, Pîrvu Andrei, Miclea Diana, Mihu? Gheorghe, Ple?ea R?zvan-Mihail, ?tefan Delia, Drodar Mihaela, Laz?r C?lin, On Behalf Of The Hint Study , On Behalf Of The Fuse Study , Ioana Mihai, Popp Ra |
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