Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 33 Records) |
Query Trace: Deafness and RNR1[original query] |
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Novel mutations affecting the secondary structure of MT-RNR1 gene: a causal relationship with profound nonsyndromic hearing impairment. Genetic testing and molecular biomarkers 2012 Sep 16 (9): 1092-7. Padma Gunda, Ramchander Puppala Venkat, Nandur Vijaya Udaya, Kumar Kurapati Ravi, Padma Tirunil |
Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus. PloS one 2012 7 (5): e36354. Danilenko Nina, Merkulava Elena, Siniauskaya Marina, Olejnik Olga, Levaya-Smaliak Anastasia, Kushniarevich Alena, Shymkevich Andrey, Davydenko Ol |
Association between idiopathic hearing loss and mitochondrial DNA mutations: a study on 169 hearing-impaired subjects. International journal of molecular medicine 2013 Oct 32 (4): 785-94. Guaran Valeria, Astolfi Laura, Castiglione Alessandro, Simoni Edi, Olivetto Elena, Galasso Marco, Trevisi Patrizia, Busi Micol, Volinia Stefano, Martini Alessand |
Investigation of the A1555G mutation in mitochondrial DNA (MT-RNR1) in groups of Brazilian individuals with nonsyndromic deafness and normal-hearing. Indian journal of human genetics 2013 Jan 19 (1): 54-7. Salomão Karina Bezerra, Ayo Christiane Maria, Della-Rosa Valter Augus |
Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations. Clinical genetics 2015 Jun 87 (6): 588-93. Gu X, Guo L, Ji H, Sun S, Chai R, Wang L, Li |
Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han. Chinese medical journal 2014 127 (18): 3233-7. Li Qian, Ji Yubin, Han Bing, Zong Liang, Lan Lan, Zhao Yali, Wang Hongyang, Wang Dayong, Wang Qiu |
Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry. BMC medical genetics 2016 17 (1): 41. Alves Rogério Marins, da Silva Costa Sueli Matilde, do Amôr Divino Miranda Paulo Mauricio, Ramos Priscila Zonzini, Marconi Thiago Gibbin, Santos Oliveira Gisele, Castilho Arthur Menino, Sartorato Edi Lúc |
Association of nuclear and mitochondrial genes with audiological examinations in Iranian patients with nonaminoglycoside antibiotics-induced hearing loss. Therapeutics and clinical risk management 2016 12 117-28. Balali Maryam, Kamalidehghan Behnam, Farhadi Mohammad, Ahmadipour Fatemeh, Ashkezari Mahmoud Dehghani, Hemami Mohsen Rezaei, Arabzadeh Hossein, Falah Masoumeh, Meng Goh Yong, Houshmand Masso |
Genetic frequencies related to severe or profound sensorineural hearing loss in Inner Mongolia Autonomous Region. Genetics and molecular biology 2016 Oct 0. Liu Yongzhi, Ao Liying, Ding Haitao, Zhang Dong |
A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population. PloS one 2017 12 (5): e0177196. Li Siping, Peng Qi, Liao Shengyun, Li Wenrui, Ma Qiang, Lu Xiaom |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
[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 |
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 |
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 |
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