Human Genome Epidemiology Literature Finder
|
Records 1 - 30 (of 46 Records) |
| Query Trace: Counseling and SLC26A4[original query] |
|---|
| [Common deafness gene mutations of non-syndromic hearing loss in Liaoning]. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2014 Aug 28 (16): 1244-7. Tian Ying, Wang Zheng, Yang Ning, Hui Lian, Jiang Xuej |
| [Screening of common deafness gene mutations in 17 000 Chinese newborns from Chengdu based on microarray analysis]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2014 Oct 31 (5): 547-52. Lyu Kangmo, Xiong Yehua, Yu Hao, Zou Ling, Ran Longrong, Liu Deshun, Yin Qin, Xu Yingwen, Fang Xue, Song Zuling, Huang Lijia, Tan Dayong, Zhang Zhiw |
| Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China. PloS one 2015 10 (8): e0135088. Jiang Yi, Huang Shasha, Deng Tao, Wu Lihua, Chen Juan, Kang Dongyang, Xu Xiufeng, Li Ruiyu, Han Dongyi, Dai |
| Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct. International journal of pediatric otorhinolaryngology 2015 Aug 79 (8): 1351-3. Pang Xiuhong, Chai Yongchuan, Chen Penghui, He Longxia, Wang Xiaowen, Wu Hao, Yang T |
| Mutation analysis of common GJB2, SCL26A4 and 12S rRNA genes among 380 deafness patients in northern China. International journal of pediatric otorhinolaryngology 2017 Jul 98 39-42. Pan Jing, Xu Ping, Tang Weibo, Cui Zhongtao, Feng Miao, Wang Chunyi |
| The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population. International journal of pediatric otorhinolaryngology 2017 11 102 67-70. Huang Shasha, Huang Bangqing, Wang Guojian, Kang Dong Yang, Zhang Xin, Meng Xiaoxiao, Dai |
| [Value of pre-gestational deafness-related mutation screening for the prevention and intervention of congenital deafness]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2017 10 34 (5): 722-725. Sun Xuejing, Xing Xinli, He Qingqing, Zhou Lin, Zhang Jing, Zhao Qing, Hou Huili, Xi Zuomi |
| 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 |
| [An analysis of the mutation in GJB2?GJB3?SLC26A4 and mtDNA12SrRNA in new born]. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2017 May 31 (9): 664-666. Chai F, Zhao H L, Qiu S |
| Genetic mutations in non-syndromic deafness patients in Hainan Province have a different mutational spectrum compared to patients from Mainland China. International journal of pediatric otorhinolaryngology 2018 May 108 49-54. Huang Bangqing, Han Mingyu, Wang Guojian, Huang ShaSha, Zeng Jialing, Yuan Yongyi, Dai |
| [Mutation analysis and early pregnancy prenatal diagnosis for two families affected with non-syndromic hearing loss]. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2018 11 32 (20): 1572-1574;1593. Guo F F, Cheng L, Xu Y, Zhang J F, Li C Y, Zheng |
| Suspension array-based deafness genetic screening in 53,033 Chinese newborns identifies high prevalence of 109?G>A in GJB2. International journal of pediatric otorhinolaryngology 2019 Aug 126 109630. Zou Yu, Dai Qi-Qiang, Tao Wei-Jing, Wen Xiao-Ling, Feng De-Feng, Deng Hua, Zhou Wei-Ping, Li Mi, Zhang Lia |
| Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China. International journal of pediatric otorhinolaryngology 2019 Apr 122 185-190. Xiang Yan-Bao, Tang Shao-Hua, Li Huan-Zheng, Xu Chen-Yang, Chen Chong, Xu Yun-Zhi, Ding Li-Rong, Xu Xue-Q |
| Mutation analysis of the SLC26A4 gene in three Chinese families. Bioscience trends 2019 Oct . Wen Cheng, Wang Shijie, Zhao Xuelei, Wang Xianlei, Wang Xueyao, Cheng Xiaohua, Huang Lih |
| Mutation analysis of common deafness genes among 1,201 patients with non-syndromic hearing loss in Shanxi Province. Molecular genetics & genomic medicine 2019 Jan e537. Zhou Yongan, Li Chao, Li Min, Zhao Zhonghua, Tian Shuxiong, Xia Hou, Liu Peixian, Han Yaxin, Ren Ruirui, Chen Jianping, Jia Caihong, Guo W |
| Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families. 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 2020 5 277 (12): 3331-3339. Liu Yalan, Wen Jie, Sang Shushan, Mei Lingyun, He Chufeng, Jiang Lu, Huang Sida, Feng Yo |
| [Sequencing of 100 common variation sites of 18 deafness susceptibility genes among 16 182 individuals from Dongguan]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Apr 37 (4): 373-377. Zhang Bashan, Li Chan, Zhu Zhinian, Ding Aijiao, Liu Yuanru, Lei W |
| Whole exome sequencing of six Chinese families with hereditary non-syndromic hearing loss. International journal of pediatric otorhinolaryngology 2021 7 148 110817. Liang Pengfei, Chen Fengping, Wang Shujuan, Li Qiong, Li Wei, Wang Jian, Chen Jun, Zha Dingj |
| Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity. Frontiers in genetics 2021 6 12 641925. Fareed Mohd, Sharma Varun, Singh Inderpal, Rehman Sayeed Ur, Singh Gurdarshan, Afzal Mohamm |
| Genetic testing involving 100 common mutations for antenatal diagnosis of hereditary hearing loss in Chongqing, China. Medicine 2021 Apr 100 (17): e25647. Hu Hua, Zhou Peng, Wu Jiayan, Lei Wei, Wang Yang, Yang Ying, Liu Hailia |
| Molecular screening of patients with profound hearing loss from Chengdu, China. Acta oto-laryngologica 2021 12 142 (1): 57-60. Dai Qingqing, Dai Wei, Wang Dan, Liu Xia, Zou Ling, Chen Jiani, Zheng Hong, Duan Mao |
| 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 |
| 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 |
| 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 |
| 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 |
| [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 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 |
| Identification of novel and known genetic variants associated with hereditary hearing loss in iranian families using whole exome sequencing. Molecular biology reports 2024 5 51 (1): 662. Nahid Rezaie, Nader Mansour Samaei, Morteza Oladna |
| 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
- Content source: