Human Genome Epidemiology Literature Finder
Reproductive and Child Health
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Records 1 - 30 (of 1455 Records) |
| Query Trace: Hearing Loss[original query] |
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| 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 |
| Sensorineural Hearing Loss in Patients With the m.1555A>G Mutation in the MTRNR1 Gene. The Laryngoscope 2024 9 . Jaime Gallo-Terán, Cristina Salomón-Felechosa, Rocío González-Aguado, Esther Onecha, Ana Fontalba, Ignacio Del Castillo, Carmelo Morales-Angu |
| Disturbed function of TBL1X has a differential effect on T3 regulated gene expression in two human liver cell models. European thyroid journal 2024 9 . Yalan Hu, Lorraine Soares De Oliveira, Kim Falize, A S Paul van Trotsenburg, Eric Fliers, Joseph E Kaserman, Andrew A Wilson, Anthony N Hollenberg, Eveline Bruinstroop, Anita Boel |
| The biphasic impact of apolipoprotein E ?4 allele on age-related hearing loss. Scientific reports 2024 9 14 (1): 21420. Jae Sang Han, Sung Goo Yoo, Sun Jung Lee, Hyun Jin Lee, In Young Choi, Kyoung Ho Pa |
| Prevalence of hearing loss in pseudohypoparathyroidism. Orphanet journal of rare diseases 2024 9 19 (1): 339. Cassandre Djian, Jugurtha Berkenou, Anya Rothenbuhler, Jérémie Botton, Agnès Linglart, Jérôme Nevo |
| Mendelian randomization reveals the causal association between gout and hearing impairment in older adults. Medicine 2024 9 103 (22): e38259. Xiaopeng Fu, Xin Zh |
| 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 |
| A Novel Homozygous Loss-of-Function Variant in GPR156 Delineates Non-syndromic Hearing Loss. Biochemical genetics 2025 1 . M Muaaz Aslam, Safdar Abbas, Shoaib Nawaz, Gohar Zaman, Ishtiaq Ahmed, Misbahuddin Rafeeq, Ziaullah M Sain, Alaa Hamed Habib, Muhammad Umair, Khadim Sh |
| 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 |
| A Missense Variant in the IKZF2 Gene Identified in a Genetically Undiagnosed Family With Hearing Loss. American journal of medical genetics. Part A 2025 1 e63986. Teng Zhang, Qiang Li, Hanjun Wang, Shuping Sun, Hongen |
| Causal relationship between psoriasis and sudden deafness: a Mendelian randomization study. Archives of dermatological research 2025 1 317 (1): 167. Linrong Wu, Yiming Shen, Junjun Zhang, Zhisen Shen, Tian |
- Page last reviewed:Feb 1, 2024
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