Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 374 Records) |
| Query Trace: Deafness and GJB2[original query] |
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| The Frequency of Common Deafness-Associated Variants Among 3,555,336 Newborns in China and 141,456 Individuals Across Seven Populations Worldwide. Ear and hearing 2022 Sep . Zhang Jiao, Wang Hongyang, Yan Chengbin, Guan Jing, Yin Linwei, Lan Lan, Li Jin, Zhao Lijian, Wang Qiu |
| Evolutionary origin of pathogenic GJB2 alleles in China. Clinical genetics 2022 7 102 (4): 305-313. Jiang Yi, Huang Shasha, Zhang Yi, Fang Nan, Liu Qian, Liu Yunchao, Bai Ling, Han Dongyi, Dai |
| Analysis of Genetic Variations in Connexin 26 ( GJB2 ) Gene among Nonsyndromic Hearing Impairment: Familial Study. Global medical genetics 2022 6 9 (2): 152-158. Hegde Smita, Hegde Rajat, Kulkarni Suyamindra S, Das Kusal K, Gai Pramod B, Bulagouda Rudragouda |
| Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population. Journal of medicine and life 2022 2 14 (6): 841-846. Al-Janabi Anwar Madlool, Ahmmed Habeeb Shuhaib, Al-Khafaji Salih Mah |
| Analysis of GJB2 Gene Mutations in 1330 Deafness Cases of Major Ethnic Groups in Northwest China. Inquiry : a journal of medical care organization, provision and financing 2022 2 59 469580211055571. Bian Panpan, Xu Baicheng, Zhao Xiaoyun, Zhu YiMing, Chen Chi, Chen XingJian, Liu Xiaowen, Wang Yanli, Guo Yuf |
| Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel. International journal of molecular sciences 2022 12 23 (24): . Shatokhina Olga, Galeeva Nailya, Stepanova Anna, Markova Tatiana, Lalayants Maria, Alekseeva Natalia, Tavarkiladze George, Markova Tatiana, Bessonova Liudmila, Petukhova Marina, Guseva Daria, Anisimova Inga, Polyakov Alexander, Ryzhkova Oxana, Bliznetz Ele |
| Molecular etiology study of hearing loss in 13 Chinese Han families. Frontiers in neurology 2022 12 13 1048218. Sun Lianhua, Lin Zhengyu, Wang Xiaowen, Shen Jiali, Li Yue, Huang Yuyu, Yang J |
| [Meta-analysis for the association of GJB2 gene p.V37I variant and its types with the risk of deafness]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 12 39 (12): 1313-1318. Wang Zaihua, Shao Ying, Li J |
| 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 |
| Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment. The Journal of molecular diagnostics : JMD 2023 9 . Yu-Ting Chiang, Pei-Hsuan Lin, Ming-Yu Lo, Hsin-Lin Chen, Chen-Yu Lee, Cheng-Yu Tsai, Yin-Hung Lin, Shih-Feng Tsai, Tien-Chen Liu, Chuan-Jen Hsu, Pei-Lung Chen, Jacob Shu-Jui Hsu, Chen-Chi |
| The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia). Genes 2023 5 14 (5): . Vera G Pshennikova, Fedor M Teryutin, Alexandra M Cherdonova, Tuyara V Borisova, Aisen V Solovyev, Georgii P Romanov, Igor V Morozov, Alexander A Bondar, Olga L Posukh, Sardana A Fedorova, Nikolay A Barashk |
| [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 |
| Genetic Underpinnings and Audiological Characteristics in Children With Unilateral Sensorineural Hearing Loss. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2023 5 . Chen-Yu Lee, Pei-Hsuan Lin, Yu-Ting Chiang, Cheng-Yu Tsai, Shu-Yu Yang, You-Mei Chen, Chao-Hsuan Li, Chun-Yi Lu, Tien-Chen Liu, Chuan-Jen Hsu, Pei-Lung Chen, Jacob Shujui Hsu, Chen-Chi |
| Analysis of GJB2 gene mutations spectrum and the characteristics of individuals with c.109G>A in Western Guangdong. Molecular genetics & genomic medicine 2023 4 e2185. Shaoming Liang, Weihong Li, Zhichao Chen, Shimin Yuan, Zhao Wa |
| Optimized concurrent hearing and genetic screening in Beijing, China: A cross-sectional study. Bioscience trends 2023 4 . Wen Cheng, Yang Xiaozhe, Cheng Xiaohua, Zhang Wei, Li Yichen, Wang Jing, Wang Chuan, Ruan Yu, Zhao Liping, Lu Hongli, Li Yingxin, Bai Yue, Yu Yiding, Li Yue, Xie Jinge, Qi Bei-Er, En Hui, Liu Hui, Fu Xinxing, Huang Lihui, Han Dem |
| Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2023 3 . Salame Malak, Bonnet Crystel, Moctar Ely Cheikh Mohamed, Brahim Selma Mohamed, Dedy Abdallahi, Vetah Ledour Abdel, Veten Fatimetou, Hamed Cheikh Tijani, Petit Christine, Houmeida Ahm |
| Association Between Susceptibility to SSHL and Single Nucleotide Polymorphisms at the rs2228612 Locus of the DNMT1 Gene and the rs5570459 Locus of the GJB2 Gene. Alternative therapies in health and medicine 2023 2 . Zhang Yanyan, Liu Hua, Song Yang, Liu Ning, Yao Cunj |
| Next-generation sequencing for genetic testing of hearing loss populations. Clinica chimica acta; international journal of clinical chemistry 2023 12 552 117693. Lulu Wang, Gang Liu, Dingyuan Ma, Huasha Zeng, Yuguo Wang, Chunyu Luo, Jingjing Zhang, Zhengfeng |
| 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 |
| Genetic Basis of Hearing Loss in Mongolian Patients: A Next-Generation Sequencing Study. Genes 2024 9 15 (9): . Bayasgalan Gombojav, Jargalkhuu Erdenechuluun, Zaya Makhbal, Narandalai Danshiitsoodol, Erkhembulgan Purevdorj, Maralgoo Jargalmaa, Tserendulam Batsaikhan, Pei-Hsuan Lin, Yue-Sheng Lu, Ming-Yu Lo, Hsin-Yi Tseng, Cheng-Yu Tsai, Chen-Chi |
| 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 |
| Genetic screening of newborns for deafness over 11 years in Beijing, China: More infants could benefit from an expanded program. Bioscience trends 2024 8 . Yu Ruan, Cheng Wen, Xiaohua Cheng, Wei Zhang, Liping Zhao, Jinge Xie, Hongli Lu, Yonghong Ren, Fanlin Meng, Yue Li, Lin Deng, Lihui Huang, Demin H |
| Novel GJB2 mutation c.188delT compound with c.235delC causing non-syndromic hearing loss in a Chinese family: A case report. Medicine 2024 8 103 (33): e39266. Yilun Tao, Zhipeng Hu, Dong Han, Wenxia Song, Lihong Wang, Haiwei Wang, Xiaoze |
| Whole Exome Sequencing of Non-Syndromic Hearing Loss Patients. Iranian journal of public health 2024 6 53 (2): 453-461. Hossein Naddafnia, Zahra Noormohammadi, Shiva Irani, Iman Salahshoorif |
| Unveiling a novel GJB2 dominant K22T mutation in a Chinese family with hearing loss. Acta biochimica et biophysica Sinica 2024 5 . Haiting Ji, Yilai Shu, Huawei |
| Correlation between the etiology of severe hearing loss and endolymphatic hydrops. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2024 10 . Sung-Min Park, Jin Hee Han, Jung Kyu Lee, Byung Se Choi, Yun Jung Bae, Byung Yoon Ch |
| Genotype-phenotype analysis of hearing function in patients with DFNB1A caused by the c.-23+1G>A splice site variant of the GJB2 gene (Cx26). PloS one 2024 10 19 (10): e0309439. Fedor M Teryutin, Vera G Pshennikova, Aisen V Solovyev, Georgii P Romanov, Sardana A Fedorova, Nikolay A Barashk |
| 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 |
| Analysis of deafness susceptibility gene of neonates in northern Guangdong, China. Scientific reports 2024 1 14 (1): 362. Zhanzhong Ma, Wenbo Huang, Jing Xu, Jianwu Qiu, Yulan Liu, Meixian Ye, Shushu F |
| Hereditary deafness carrier screening in 9,993 Chinese individuals. Frontiers in genetics 2024 1 14 1327258. Yanqiu Liu, Lei Wang, Lanlai Yuan, Yaqing Li, Zhengshi Chen, Bicheng Yang, Daqing Wang, Yu S |
- Page last reviewed:Feb 1, 2024
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