Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 689 Records) |
Query Trace: GJB2[original query] |
---|
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 |
Follow-up of infants with mild-to-moderate sensorineural hearing loss over three years. International journal of pediatric otorhinolaryngology 2023 8 173 111697. Yanling Hu, Zhongfang Xia, Ping Ch |
GJB2 p.V37I Mutation Associated With Moderate Nonsyndromic Hearing Loss in an Adult Taiwanese Population. Ear and hearing 2023 6 . Ting-Ting Yen, I-Chieh Chen, Sudi Cho, Ting-Gang Chang, Kai-Hsiang Shih, Men-Wei Hua, Jui-Lin Li, Chiann-Yi Hsu, Tzu-Hung Hsiao, Yi-Ming Ch |
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients. Journal of human genetics 2023 6 . Li Zhang, Li Yu, Xianhong Shu, Jing Ding, Jingmin Zhou, Chunjiu Zhong, Baishen Pan, Wei Guo, Chunyan Zhang, Beili Wa |
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 |
Programming Levels and Speech Perception in Pediatric Cochlear Implant Recipients With Enlarged Vestibular Aqueduct or GJB2 Mutation. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2023 5 44 (5): e273-e280. Kelly N Jahn, Charlotte Morse-Fortier, Amanda M Griffin, David Faller, Michael S Cohen, Margaret A Kenna, Elizabeth Doney, Julie G Arenbe |
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 |
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 |
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 |
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 |
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 |
Hearing and Hearing Loss Progression in Patients with GJB2 Gene Mutations: A Long-Term Follow-Up. International journal of molecular sciences 2023 12 24 (23): . Aki Sakata, Akinori Kashio, Misaki Koyama, Shinji Urata, Hajime Koyama, Tatsuya Yamaso |
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 |
Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population. Journal of human genetics 2023 12 . Li Shan Chen, Cheng Wei Yu, Wei Jiun Li, Wen Chi Hsieh, Yi Ping |
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 |
Genotypic and Allelic Frequencies of GJB2 Variants and Features of Hearing Phenotypes in the Chinese Population of the Dongfeng-Tongji Cohort. Genes 2023 11 14 (11): . Lanlai Yuan, Xiaohui Wang, Xiaozhou Liu, Sen Chen, Weijia Kong, Meian He, Yu S |
Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects. Biomedicines 2023 11 11 (11): . María Domínguez-Ruiz, Laura Ruiz-Palmero, Paula I Buonfiglio, Irene García-Vaquero, Elena Gómez-Rosas, Marina Goñi, Manuela Villamar, Matías Morín, Miguel A Moreno-Pelayo, Ana B Elgoyhen, Francisco J Del Castillo, Viviana Dalamón, Ignacio Del Castil |
Whole-exome sequencing revealed novel genetic alterations in patients with tetralogy of Fallot. Translational pediatrics 2023 11 12 (10): 1835-1841. Yu Pan, Manli Liu, Songsong Zhang, Huaxian Mei, Jing |
Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study. Journal of medical genetics 2023 10 . Han-Ying Chen, Shin-Yu Lin, Jin-Chung Shih, Jessica Kang, Yi-Yun Tai, Steven W Shaw, Kuang-Cheng Chen, Kevin Mai, Chien-Nan L |
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population. Genes 2023 10 14 (10): . Aziz Suat Gunsel, Mahmut Cerkez Ergoren, Hatice Kemal, Haniyeh Rahbar Kafshboran, Levent Cerit, Ayla Turgay, Hamza Duy |
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 |
Unraveling the Diversity of GJB2 Mutations in Nonsyndromic Hearing Loss: A Comprehensive Study in the Moroccan Population. Audiology & neuro-otology 2024 1 1-8. Khawla El Fizazi, Meriame Abbassi, Samira Nmer, Hajar Laamarti, Mohamed Noureddine ElAlami, Karim Ouldim, Laila Bouguenouch, Mohammed Rid |
Genetic diagnosis of childhood sensorineural hearing loss. Acta otorrinolaringologica espanola 2024 1 . Sara Reda Del Barrio, Alfredo García Fernández, Juan Francisco Quesada-Espinosa, María Teresa Sánchez-Calvín, Irene Gómez-Manjón, Olalla Sierra-Tomillo, Alexandra Juárez-Rufián, Joaquín de Vergas Gutiérr |
Interactions of genetic variations in FAS, GJB2 and PTPRN2 are associated with noise-induced hearing loss: a case-control study in China. BMC medical genomics 2024 1 17 (1): 18. Shan Wu, Zhidan Wu, Manlian Chen, Xiangbin Zhong, Haoyan Gu, Wenjing Du, Weidong Liu, Li Lang, Junyi Wa |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: