Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 629 Records) |
| Query Trace: Hearing and GJB2[original query] |
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| 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 |
| 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 |
| 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 landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis. Clinical genetics 2024 8 . Masoome Alerasool, Atieh Eslahi, Barbara Vona, Mir Salar Kahaei, Nasrin Kaseb Mojaver, Mohsen Rajati, Alireza Pasdar, Mohammad Mehdi Ghasemi, Ehsan Saburi, Reza Mousavi Ardehaie, Majid Hadadi Aval, Mohammad Reza Tale, Navid Nourizadeh, Mohammad Reza Afzalzadeh, Hamid Tayarani Niknezhad, Majid Mojarr |
| 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 |
| Etiologic Diagnosis of Genetic Hearing Loss in an Ethnically Diverse Deafness Cohort. Audiology & neuro-otology 2024 8 . Denise Yan, Aria Nawab, Molly Smeal, Xue-Zhong L |
| 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 |
| Genetic analysis of 106 sporadic cases with hearing loss in the UAE population. Human genomics 2024 6 18 (1): 59. Abdelaziz Tlili, Mona Mahfood, Abdullah Al Mutery, Jihen Chouch |
| 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 |
| Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia. Croatian medical journal 2024 6 65 (3): 198-208. Ivona Sansovi?, Ana-Maria Meaši?, Adriana Bobinec, Leona Morožin Pohovski, Ljubica Odak, Katarina Vulin, Bernarda Lozi?, Mijana Kero, Sanda Huljev Frkovi?, Silvija Pušelj |
| Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants. Scientific reports 2024 5 14 (1): 10596. Keita Tsukada, Shin-Ya Nishio, Yutaka Takumi, Shin-Ichi Usa |
| 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 |
| Machine learning-based longitudinal prediction for GJB2-related sensorineural hearing loss. Computers in biology and medicine 2024 5 176 108597. Pey-Yu Chen, Ta-Wei Yang, Yi-Shan Tseng, Cheng-Yu Tsai, Chiung-Szu Yeh, Yen-Hui Lee, Pei-Hsuan Lin, Ting-Chun Lin, Yu-Jen Wu, Ting-Hua Yang, Yu-Ting Chiang, Jacob Shu-Jui Hsu, Chuan-Jen Hsu, Pei-Lung Chen, Chen-Fu Chou, Chen-Chi |
| 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 |
| Targeted Linked-Read Sequencing for Direct Haplotype Phasing of Parental GJB2/SLC26A4 Alleles: A Universal and Dependable Noninvasive Prenatal Diagnosis Method Applied to Autosomal Recessive Nonsyndromic Hearing Loss in At-Risk Families. The Journal of molecular diagnostics : JMD 2024 4 . Bo Gao, Yi Jiang, Mingyu Han, Xiaowen Ji, Dejun Zhang, Lihua Wu, Xue Gao, Shasha Huang, Chaoyue Zhao, Yu Su, Suyan Yang, Xin Zhang, Na Liu, Lu Han, Lihai Wang, Lina Ren, Jinyuan Yang, Jian Wu, Yongyi Yuan, Pu D |
| Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China. Heliyon 2024 12 10 (20): e38802. Jingyu Li, Shiyu Zhou, Jiahong Pei, Wanzhen Li, Rongjie Cui, Xiaofei Ren, Jingru Wei, Qian Li, Baosheng Zhu, Yaliang Sa, Yunlong |
| 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 |
| Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population. International journal of audiology 2024 10 1-6. Minna Kraatari-Tiri, Tyrni Pykälainen, Pia Pohjola, Sanna Häkli, Elisa Rahikka |
| 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 |
| Genetic and audiological determinants of hearing loss in high-risk neonates. Brazilian journal of otorhinolaryngology 2025 1 91 (2): 101541. Yanan Shi, Naiyao Zhang, Na Du, Tongxi Zheng, Ying Yu, Youjin |
- Page last reviewed:Feb 1, 2024
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