Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 1419 Records) |
| Query Trace: Hearing loss[original query] |
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| Investigating Splice Defects in USH2A Using Targeted Long-Read Sequencing. Cells 2024 8 13 (15): . Shwetha Chandrasekhar, Siying Lin, Neringa Jurkute, Kathryn Oprych, Leire Estramiana Elorrieta, Elena Schiff, Samantha Malka, Genevieve Wright, Michel Michaelides, Omar A Mahroo, Andrew R Webster, Gavin Ar |
| Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants. BMC medical genomics 2024 8 17 (1): 203. Xicui Long, Wenyu Xiong, Xuegang Wang, Jia Geng, Mingjun Zhong, Yu Huang, Man Liu, Fengxiao Bu, Jing Cheng, Yu Lu, Huijun Yu |
| 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 |
| Overlapping hearing and communication profiles for the deletion and the RAI1 variant form of Smith-Magenis Syndrome (SMS). Journal of communication disorders 2024 8 111 106455. Christine Brennan, Rachael R Baid |
| Whole Exome Sequencing Revealing a Novel PBX1 Gene Variant in a Chinese Family Causing Recurrent Neonatal Death. Birth defects research 2024 8 116 (8): e2396. Nan Huang, Hegan Zhang, Zhengping Huang, Xiaoxia Wu, Na Zhang, Yuying Jiang, Chunnuan Chen, Jianlong Zhua |
| 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 |
| A Novel CEP78 Variant Presenting as Cone Dystrophy and Hearing Loss. Ophthalmic surgery, lasers & imaging retina 2024 8 1-5. Promie R Faruque, Baichun Hou, Jin Kyun Oh, Stephen H Tsa |
| Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants. American journal of medical genetics. Part A 2024 8 e63846. Monica Penon-Portmann, Kendyl Naugle, Frank Brodie, Julie Schallhorn, Paul Griggs, Joyce |
| Newborn concurrent hearing and genetic screening for hearing impairment: A systematic review and meta?analysis. Experimental and therapeutic medicine 2024 8 28 (3): 365. Ke Pan, Zhirong Shang, Jialin Liu, Yidong Wen, Jing Luo, Dan Zou, Aichun Wang, Tao Li, Lingyan Liao, Pan X |
| The role of genetic variants in the prediction of hearing loss due to cisplatin chemoradiotherapy. Cancer medicine 2024 8 13 (16): e7465. Charlotte W Duinkerken, Sabrina Chiodo, Katrina Hueniken, Michael Hauptmann, Katarzyna Jó?wiak, Dangxiao Cheng, Andrew Hope, Geoffrey Liu, Charlotte L Zu |
| Factors Related to Dizziness in Workers With Noise-Induced Hearing Loss in Brazil. American journal of audiology 2024 8 1-9. Danúbia Hillesheim, Renata Coelho Scharlach, Eduarda Dandolini da Silva, Bárbara Amaral Silva, Fernanda Zuc |
| 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 |
| Hearing loss is not associated with risk of Parkinson's disease: A Mendelian randomization study. Heliyon 2024 7 10 (11): e32533. Pingping Ning, Xin Mu, Xingzhi Guo, Rui |
| High prevalence of m.1555A?>?G in patients with hearing loss in the Baikal Lake region of Russia as a result of founder effect. Scientific reports 2024 7 14 (1): 15342. Tuyara V Borisova, Aleksandra M Cherdonova, Vera G Pshennikova, Fedor M Teryutin, Igor V Morozov, Alexander A Bondar, Olga A Baturina, Marsel R Kabilov, Georgii P Romanov, Aisen V Solovyev, Sardana A Fedorova, Nikolay A Barashk |
| Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases. Genes 2024 7 15 (7): . María Domínguez-Ruiz, Margarita Olarte, Esther Onecha, Irene García-Vaquero, Nancy Gelvez, Greizy López, Manuela Villamar, Matías Morín, Miguel A Moreno-Pelayo, Carmelo Morales-Angulo, Rubén Polo, Martha L Tamayo, Ignacio Del Castil |
| A genome-wide association study reveals a polygenic architecture of speech-in-noise deficits in individuals with self-reported normal hearing. Scientific reports 2024 6 14 (1): 13089. Ishan Sunilkumar Bhatt, Juan Antonio Raygoza Garay, Srividya Grama Bhagavan, Valerie Ingalls, Raquel Dias, Ali Torkama |
| 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 |
| Causal association between type 2 diabetes mellitus and acute suppurative otitis media: insights from a univariate and multivariate Mendelian randomization study. Frontiers in endocrinology 2024 6 15 1407503. Lihong Kui, Cheng Dong, Junyu Wu, Feinan Zhuo, Bin Yan, Zhewei Wang, Meiling Yang, Canhai Xiong, Peng Q |
| Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population. BMC medical genomics 2024 6 17 (1): 155. Hou-Kuang Chen, Yow-Wen Hsieh, Hsing-Yu Hsu, Ting-Yuan Liu, Yu-Ting Zhang, Chia-Der Lin, Fuu-Jen Ts |
| Association between BCL11B gene polymorphisms and age-related hearing loss in the elderly: A case-control study in Qingdao, China. PloS one 2024 6 19 (6): e0304770. Xin Li, Jingkai Zhang, Hua Zhang, Jifeng Ren, Hainan Cao, Yaoyao Xu, Dongfeng Zhang, Haiping Du |
| Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and Their Genotype-phenotype Correlation. Journal of clinical research in pediatric endocrinology 2024 6 . Samim Özen, Damla Gök?en, Ferda Evin, Esra I??k, Hüseyin Onay, Bilça? Akgün, Aysun Ata, Tahir Atik, Füsun Düzcan, Ferda Özk?nay, ?ükran Darcan, Özgür Ço?u |
| Bidirectional causality between idiopathic sudden sensorineural hearing loss and depression: a Mendelian randomization study. Scientific reports 2024 6 14 (1): 14932. Chuanyu Wu, Ya Yu, Tongtong Zhao, Hui X |
| Correlation between hearing loss and mild cognitive impairment in the elderly population: Mendelian randomization and cross-sectional study. Frontiers in aging neuroscience 2024 6 16 1380145. Tong Xu, Tao Zong, Jing Liu, Le Zhang, Hai Ge, Rong Yang, Zongtao L |
| 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 |
| Genotype-first analysis in an unselected health system-based population reveals variable phenotypic severity of COL4A5 variants. medRxiv : the preprint server for health sciences 2024 6 . McKenzie Zellers, Kaushal Solanki, Kyle Retterer, Karyn M Murphy, Melissa A Kelly, H Les Kirchner, Ion Dan Bucaloiu, Tooraj Mirshahi, Bryn Moore, Alexander R Cha |
| 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 |
| [The updates of the ACMG variant interpretation guidelines affect the pathogenicity determination of OTOF gene variations in patients with auditory neuropathy]. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2024 5 59 (5): 455-463. K L Wu, J Li, H Y Wang, Q J Wa |
| Paradoxical Embolism in Juveniles and Young Adults With Severe-to-Profound Sudden Sensorineural Hearing Loss. Ear, nose, & throat journal 2024 5 1455613241250185. Huiying Sun, Yuchen Yang, Ruizhe Yang, Xu Tian, Yang Zhao, Haiyan Wu, Zhiqiang G |
| Relationship of Hearing Loss to Parkinson's Disease, Dementia, and APOE Genotype in Adults. Medicina (Kaunas, Lithuania) 2024 5 60 (5): . Chih-Hung Cha, Tsu-Kung Lin, Ching-Nung Wu, Chao-Hui Yang, Yi-Wen Huang, Chung-Feng Hwa |
- Page last reviewed:Feb 1, 2024
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