Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 295 Records) |
Query Trace: SLC26A4[original query] |
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Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism. Journal of endocrinological investigation 2022 9 46 (2): 393-404. Gentilini D, Muzza M, de Filippis T, Vigone M C, Weber G, Calzari L, Cassio A, Di Frenna M, Bartolucci M, Grassi E S, Carbone E, Olivieri A, Persani |
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 |
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 |
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 |
Identification of potential susceptibility genes in patients with primary Sjögren's syndrome-associated pulmonary arterial hypertension through whole exome sequencing. Arthritis research & therapy 2023 9 25 (1): 175. Mucong Li, Yue Shi, Jiuliang Zhao, Qian Wang, Mengtao Li, Xiuli Zh |
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 |
Genetic diagnosis of fetal microcephaly at a single tertiary center in China. Frontiers in genetics 2023 5 14 1112153. You Wang, Fang Fu, Tingying Lei, Li Zhen, Qiong Deng, Hang Zhou, Chunling Ma, Ken Cheng, Ruibin Huang, Ru Li, Qiuxia Yu, Lushan Li, Jin Han, Xin Yang, Dongzhi Li, Can Li |
[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 |
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 |
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 |
Genetic predisposition to differentiated thyroid cancer among Polish population. Polish archives of internal medicine 2024 1 . Martyna Borowczyk, Mateusz Sypniewski, Joanna Szyda, Ma?gorzata Braszka, Katarzyna Ziemnicka, Marek Rucha?a, Michalina Oszywa, Zbigniew J Król, Paula Dobo |
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- Page last updated:Apr 16, 2024
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