Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 54 Records) |
Query Trace: Hearing and RNR1[original query] |
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Analysis of mutation spectrum of common deafness-causing genes in Hakka newborns in southern China by semiconductor sequencing. Medicine 2018 Sep 97 (38): e12285. Zhao Pingsen, Lin Lifang, Lan Liubi |
Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort. BMC research notes 2018 Aug 11 (1): 546. Carvalho Simone da Costa E Silva, Grangeiro Carlos Henrique Paiva, Picanço-Albuquerque Clarissa Gondim, Dos Anjos Thaís Oliveira, De Molfetta Greice Andreotti, Silva Wilson Araujo, Ferraz Victor Evangelista de Far |
Prevalence of mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 genes in 103 children with sensorineural hearing loss in Shaoxing, China. Ear, nose, & throat journal 2018 7 97 (6): E33-E38. Yu Hong, Liu Dan, Yang Jingqun, Wu Zhiqia |
Large scale newborn deafness genetic screening of 142,417 neonates in Wuhan, China. PloS one 2018 13 (4): e0195740. Hao Zongjie, Fu Denggang, Ming Yang, Yang Jinlong, Huang Qi, Lin Weilong, Zhang Huan, Zhang Bin, Zhou Aifen, Hu Xijiang, Yao Cong, Dong Yunping, Ring Huijun Z, Ring Brian |
Unique spectra of deafness-associated mutations in Mongolians provide insights into the genetic relationships among Eurasian populations. PloS one 2018 13 (12): e0209797. Erdenechuluun Jargalkhuu, Lin Yin-Hung, Ganbat Khongorzul, Bataakhuu Delgermaa, Makhbal Zaya, Tsai Cheng-Yu, Lin Yi-Hsin, Chan Yen-Hui, Hsu Chuan-Jen, Hsu Wei-Chung, Chen Pei-Lung, Wu Chen-C |
Contribution of the GSTP1 c.313A>G variant to hearing loss risk in patients exposed to platin chemotherapy during childhood. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2019 May 21 (5): 630-635. Liberman P H P, Goffi-Gomez M V S, Schultz C, Jacob P L, de Paula C A A, Sartorato E L, Torrezan G T, Ferreira E N, Carraro D |
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 |
Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China. The journal of international advanced otology 2019 Jul . Lin Ying, Yu Feng, Jiao Yuelong, Zhou Fe |
A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss. PloS one 2019 14 (4): e0215212. Liu Yalan, Hu Chang, Liu Chang, Liu Deyuan, Mei Lingyun, He Chufeng, Jiang Lu, Wu Hong, Chen Hongsheng, Feng Yo |
Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population. Scientific reports 2019 Feb 9 (1): 1604. Han Jae Joon, Nguyen Pham Dinh, Oh Doo-Yi, Han Jin Hee, Kim Ah-Reum, Kim Min Young, Park Hye-Rim, Tran Lam Huyen, Dung Nguyen Huu, Koo Ja-Won, Lee Jun Ho, Oh Seung Ha, Anh Vu Hoang, Choi Byung Yo |
Identification of causative variants in patients with non-syndromic hearing loss in the Minnan region, China by targeted next-generation sequencing. Acta oto-laryngologica 2019 2 139 (3): 243-250. Wu Xiaohui, Gao Xingqiang, Han Peng, Zhou Yul |
Mitochondrial mutations in non-syndromic hearing loss at UAE. International journal of pediatric otorhinolaryngology 2020 9 138 110286. Mohamed Walaa Kamal Eldin, Arnoux Marc, Cardoso Thyago H S, Almutery Abdullah, Tlili Abdelaz |
The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China. International journal of pediatric otorhinolaryngology 2020 May 136 110143. Liu Xiao-Wen, Wang Jian-Chao, Wang Su-Yang, Li Shu-Juan, Zhu Yi-Ming, Ding Wen-Juan, Xu Chen-Yang, Duan Lei, Xu Bai-Cheng, Guo Yu-F |
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 |
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 |
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 |
Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype. Clinical pharmacology and therapeutics 2021 May . McDermott John Henry, Wolf Joshua, Hoshitsuki Keito, Huddart Rachel, Caudle Kelly E, Whirl-Carrillo Michelle, Steyger Peter S, Smith Richard J H, Cody Neal, Rodriguez-Antona Cristina, Klein Teri E, Newman William |
A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns. BMC medical genomics 2021 2 14 (1): 61. Yang Haiyan, Luo Hongyu, Zhang Guiwei, Zhang Junqing, Peng Zhiyu, Xiang Jia |
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 |
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 |
Comparison of the Mutation Spectrum of Common Deafness-Causing Genes in 509 Patients With Nonsyndromic Hearing Loss in 4 Different Areas of China by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry. The journal of international advanced otology 2021 Nov 17 (6): 492-499. Wang Yi, Chen Wencheng, Liu Zhizhong, Xing Wen, Zhang Haiy |
A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case. BMC medical genomics 2022 2 15 (1): 18. Ghasemnejad Tohid, Shekari Khaniani Mahmoud, Nouri Nojadeh Jafar, Mansoori Derakhshan Si |
Concurrent newborn hearing and genetic screening of common hearing loss variants with bloodspot-based targeted next generation sequencing in Jiangxi province. Frontiers in pediatrics 2022 11 10 1020519. Luo Haiyan, Yang Yan, Wang Xinrong, Xu Fangping, Huang Cheng, Liu Danping, Zhang Liuyang, Huang Ting, Ma Pengpeng, Lu Qing, Huang Shuhui, Yang Bicheng, Zou Yongyi, Liu Yanq |
Concurrent Hearing and Genetic Screening among Newborns in Ningbo, China. Computational and mathematical methods in medicine 2022 2022 1713337. Guomei Cao, Luyan Zhang, Lingling Dai, Chunhong Huang, Shan Ch |
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 |
Genetic screening of 15 hearing loss variants in 77,647 neonates with clinical follow-up. Molecular genetics & genomic medicine 2023 12 e2324. Lin Kun, Huang Jiexiang, Lin Hua, Han Junlin, Ruan Yijun, Zhang Lixian, Chen Mingqi |
Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay. BMC medical genomics 2024 9 17 (1): 233. Yixin Zhao, Yan Long, Tao Shi, Xin Ma, Chengyu Lian, Hanjun Wang, Hongen Xu, Lisheng Yu, Xiaotao Zh |
High prevalence of m.1555A?>?G in patients with hearing loss in the Baikal Lake region of Russia as a result of founder effect. Scientific reports 2024 7 14 (1): 15342. Tuyara V Borisova, Aleksandra M Cherdonova, Vera G Pshennikova, Fedor M Teryutin, Igor V Morozov, Alexander A Bondar, Olga A Baturina, Marsel R Kabilov, Georgii P Romanov, Aisen V Solovyev, Sardana A Fedorova, Nikolay A Barashk |
Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population. BMC medical genomics 2024 6 17 (1): 155. Hou-Kuang Chen, Yow-Wen Hsieh, Hsing-Yu Hsu, Ting-Yuan Liu, Yu-Ting Zhang, Chia-Der Lin, Fuu-Jen Ts |
Distribution of mitochondrial MT-RNR1, MT-TL1, MT-TS1, MT-TK and MT-TE genes variants associated with hearing loss in Southwestern China. International journal of pediatric otorhinolaryngology 2024 5 181 111979. Shiyu Zhou, Menglan Chen, Jiahong Pei, Chen Zhang, Xiaofei Ren, Jingyu Li, Yaliang Sa, Baosheng Zhu, Yunlong |
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