Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 63 Records) |
Query Trace: RNR1[original query] |
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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 |
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 |
Analysis of functional variants in mitochondrial DNA of Finnish athletes. BMC genomics 2019 10 20 (1): 784. Kiiskilä Jukka, Moilanen Jukka S, Kytövuori Laura, Niemi Anna-Kaisa, Majamaa Ka |
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 |
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 |
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 |
The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call. Genes 2021 10 12 (10): . Bellusci Marcello, Paredes-Fuentes Abraham J, Ruiz-Pesini Eduardo, Gómez Beatriz, , Martín Miguel A, Montoya Julio, Artuch Rafa |
Impact of an MT-RNR1 Gene Polymorphism on Hepatocellular Carcinoma Progression and Clinical Characteristics. International journal of molecular sciences 2021 Jan 22 (3): . Lin Yang-Hsiang, Chu Yu-De, Lim Siew-Na, Chen Chun-Wei, Yeh Chau-Ting, Lin Wey-R |
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 |
Mitochondrial DNA variant spectrum and the association with chronic tic disorders. European journal of neurology 2022 Jul . Jiang Peifang, Zhu Tao, Liu Jiajing, Tao Xiaohan, Xue Ziru, Tao Yiling, Chen Hongyu, Zeng Xiaojing, Zhu Weiyi, Shu Qiang, Yu L |
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 |
The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome. Frontiers in endocrinology 2023 9 14 1093353. Shaheen Bibi, Ghulam Abbas, Muhammad Zahoor Khan, Tanzeela Nawaz, Qudrat Ullah, Aziz Uddin, Muhammad Fiaz Khan, Sajid Ul Ghafoor, Muhammad Shahid Nadeem, Sadia Tabassum, Muhammad Zaho |
[A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 641-647. Danyan Zhuang, Fei Wang, Shuxia Ding, Zhoushu Zheng, Qi Yu, Lanqiu Lyu, Shuni Sun, Rulai Yang, Wenwen Que, Haibo |
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 |
A novel method for detecting nine hotspot mutations of deafness genes in one tube. Scientific reports 2024 1 14 (1): 454. Yang Yu, Jun Zhang, Yuxia Zhan, Guanghua L |
Association analysis of mitochondrial DNA heteroplasmic variants: methods and application. medRxiv : the preprint server for health sciences 2024 1 . Xianbang Sun, Katia Bulekova, Jian Yang, Meng Lai, Achilleas N Pitsillides, Xue Liu, Yuankai Zhang, Xiuqing Guo, Qian Yong, Laura M Raffield, Jerome I Rotter, Stephen S Rich, Goncalo Abecasis, April P Carson, Ramachandran S Vasan, Joshua C Bis, Bruce M Psaty, Eric Boerwinkle, Annette L Fitzpatrick, Claudia L Satizabal, Dan E Arking, Jun Ding, Daniel Levy, , Chunyu L |
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