Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 251 Records) |
Query Trace: Hearing and SLC26A4[original query] |
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Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia). Diagnostics (Basel, Switzerland) 2021 12 11 (12): . Danilchenko Valeriia Yu, Zytsar Marina V, Maslova Ekaterina A, Bady-Khoo Marita S, Barashkov Nikolay A, Morozov Igor V, Bondar Alexander A, Posukh Olga |
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 |
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 |
Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts. BMC medical genomics 2022 7 15 (1): 152. He Xiaohui, Zhao Shaozhi, Shi Lin, Lu Yitong, Yang Yintong, Zhang Xinw |
Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation. International journal of pediatric otorhinolaryngology 2022 7 159 111218. Elander Johanna, Ullmark Tove, Ehrencrona Hans, Jonson Tord, Piccinelli Paul, Samuelsson Sofie, Löwgren Karolina, Falkenius-Schmidt Karolina, Ehinger Johannes, Stenfeldt Karin, Värendh Mar |
Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families. Clinica chimica acta; international journal of clinical chemistry 2022 5 532 53-60. Pan Jianyan, Ma Shanshan, Teng Yanling, Liang Desheng, Li Zhuo, Wu Lingqi |
Genetic profiles of non-syndromic severe-profound hearing loss in Chinese Hans by whole-exome sequencing. Gene 2022 2 819 146258. Liu Ya, Tan Meihua, Cai Luhang, Lv Lihui, Chen Qingqing, Chen Wei, Yang Hang, Xu Yapi |
Maternally transmitted nonsyndromic hearing impairment may be associated with mitochondrial tRNA 5601C>T and tRNA 12311T>C mutations. Journal of clinical laboratory analysis 2022 Feb e24298. Yu Xuejiao, Li Sheng, Ding |
Rapid Genetic Diagnosis for Okinawan Patients with Enlarged Vestibular Aqueduct Using Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip. Journal of clinical medicine 2022 2 11 (4): . Ganaha Akira, Hishinuma Eiji, Kaname Tadashi, Hiratsuka Masahiro, Kondo Shunsuke, Tono Tetsu |
Report of rare and novel mutations in candidate genes in a cohort of hearing-impaired patients. Molecular genetics & genomic medicine 2022 2 10 (4): e1887. Liu Min, Liang Yue, Huang Bixue, Sun Jincangjian, Chen Kaiti |
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 |
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 |
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 |
Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss. International journal of molecular sciences 2022 11 23 (21): . Danilchenko Valeriia Yu, Zytsar Marina V, Maslova Ekaterina A, Posukh Olga |
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 |
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct. Human genetics 2023 9 . Isabelle Roux, Cristina Fenollar-Ferrer, Hyun Jae Lee, Parna Chattaraj, Ivan A Lopez, Kyungreem Han, Keiji Honda, Carmen C Brewer, John A Butman, Robert J Morell, Donna M Martin, Andrew J Griffi |
The correlation between deafness progression and SLC26A4 mutations in enlarged vestibular aqueduct patients. 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 7 . Kejia Yu, Xiao Liu, Beibei Ya |
Preimplantation genetic testing for hereditary hearing loss in Chinese population. Journal of assisted reproduction and genetics 2023 4 . Bi Qingling, Huang Shasha, Wang Hui, Gao Xue, Ma Minyue, Han Mingyu, Lu Sijia, Kang Dongyang, Nourbakhsh Aida, Yan Denise, Blanton Susan, Liu Xuezhong, Yuan Yongyi, Yao Yuanqing, Dai |
Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia). Genes 2023 4 14 (4): . Valeriia Yu Danilchenko, Marina V Zytsar, Ekaterina A Maslova, Konstantin E Orishchenko, Olga L Posu |
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 |
Analysis of SLC26A4 Gene in Individuals with Non Syndromic Hearing Impairment in Relation with GJB2 Associated Mutations. Avicenna journal of medical biotechnology 2023 4 15 (2): 124-127. Rajalakshmi Krishna, Thirunavukkarasu Jayakumar, Vikraman Meenu Ambika, Maruthy Santosh, Sylvester Charles, Kundapur Raje |
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 |
The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation. Genes 2023 2 14 (2): . Ba?dyga Natalia, Ozi?b?o Dominika, Gan Nina, Furmanek Mariusz, Leja Marcin L, Skar?y?ski Henryk, O?dak Moni |
The effect of SLC26A4 gene mutations on long-term rehabilitative outcomes in cochlear implant patients. Acta oto-laryngologica 2023 2 143 (2): 156-162. Wang Qin, Hu Jian, Bian Panpan, Chen Chi, Wang Yanli, Cheng Shihong, Guo Yufen, Xu Baiche |
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 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 |
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 |
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes. JAMA otolaryngology-- head & neck surgery 2023 1 149 (3): 212-222. Carlson Ryan J, Walsh Tom, Mandell Jessica B, Aburayyan Amal, Lee Ming K, Gulsuner Suleyman, Horn David L, Ou Henry C, Sie Kathleen C Y, Mancl Lisa, Rubinstein Jay, King Mary-Clai |
Study of the factors related to air-bone gap in enlarged vestibular aqueduct. Acta oto-laryngologica 2024 1 1-5. Rong Wang, Bo-Xiang Zhuang, Weiwei Guo, Jianan Li, Chang Lin, Shiming Ya |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
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