Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 1375 Records) |
Query Trace: Hearing loss[original query] |
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Association of R1939W and P1987R variants of Otoferlin (OTOF) gene with severe to profound nonsyndromic sensorineural hearing loss in Pakistani subjects. Pakistan journal of medical sciences 2023 9 39 (5): 1456-1461. Hammael Naseer, Amir Rashid, Asifa Majeed, Zunaira Ali Ba |
Development and Validation of a Nomogram to Predict the Risk of Tinnitus Severity in Patients With Unilateral Subjective Tinnitus. Ear, nose, & throat journal 2023 9 1455613231200762. Xiao-Min Zhai, Jia-Jia Dong, Hong-Lei Zhang, Jun Yuan, Xue-Jing Hao, Rui G |
Left cardiac sympathetic denervation in children with Jervell Lange-Nielsen syndrome and drug refractory torsades - A case series. Pacing and clinical electrophysiology : PACE 2023 9 . Deepanjan Bhattacharya, Narayanan Namboodiri, Madhusoodanan Pillai Sreelekshmi, Mukund A Prabhu, Abhilash Sreevilasam Pushpangadhan, Sabarinath Menon, Baiju S Dharan, Ajitkumar Valaparamb |
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 |
Association Between Hearing Loss and Cardiovascular Disease: A Meta-analysis. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2023 12 . Claire Jing-Wen Tan, Jia Wen Tricia Koh, Benjamin Kye Jyn Tan, Chang Yi Woon, Yao Hao Teo, Li Shia Ng, Woei Shyang L |
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 |
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss. Genome medicine 2023 12 15 (1): 116. Sihan Liu, Mingjun Zhong, Yu Huang, Qian Zhang, Ting Chen, Xiaofei Xu, Wan Peng, Xiaolu Wang, Xiaoshu Feng, Lu Kang, Yu Lu, Jing Cheng, Fengxiao Bu, Huijun Yu |
Causal associations of thyroid function and sudden sensorineural hearing loss: a bidirectional and multivariable Mendelian randomization study. Frontiers in neurology 2023 12 14 1269545. Jialei Chen, Chao Wu, Jing He, Linsui Wu, Yongkang Yang, Shixun Zhong, Jing L |
Prevalence and Clinical Characteristics of Mitochondrial DNA Mutations in Korean Patients With Sensorineural Hearing Loss. Journal of Korean medical science 2023 12 38 (48): e355. Sun Young Joo, Seung Hyun Jang, Jung Ah Kim, Se Jin Kim, Bonggi Kim, Hye-Youn Kim, Jae Young Choi, Heon Yung Gee, Jinsei Ju |
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 |
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression. Brain : a journal of neurology 2023 12 146 (12): 5044-5059. Hector Garcia-Moreno, Douglas R Langbehn, Adesoji Abiona, Isabel Garrood, Zofia Fleszar, Marta Antonia Manes, Ana M Susana Morley, Emma Craythorne, Shehla Mohammed, Tanya Henshaw, Sally Turner, Harsha Naik, Istvan Bodi, Robert P E Sarkany, Hiva Fassihi, Alan R Lehmann, Paola Giun |
Clinical relevance of the TECTA c.6183G>T variant identified in a family with autosomal dominant hearing loss: a case report. Croatian medical journal 2023 11 64 (5): 329-333. Ivona Sansovi?, Ana-Maria Meaši?, Ljubica Odak, Mijana Ke |
Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss. PLoS genetics 2023 11 19 (11): e1011058. Morag A Lewis, Jennifer Schulte, Lois Matthews, Kenneth I Vaden, Claire J Steves, Frances M K Williams, Bradley A Schulte, Judy R Dubno, Karen P Ste |
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 |
Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients. Scientific reports 2023 11 13 (1): 20239. Dong Woo Nam, Yong Keun Song, Jeong Hun Kim, Eun Kyoung Lee, Kyu Hyung Park, JuHyuen Cha, Byung Yoon Choi, Jun Ho Lee, Seung Ha Oh, Dong Hyun Jo, Sang-Yeon L |
Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population. Brain communications 2023 10 5 (5): fcad244. Tanya Lam, Clarissa Rocca, Kristina Ibanez, Anupriya Dalmia, Samuel Tallman, Marios Hadjivassiliou, Anke Hensiek, Andrea Nemeth, Stefano Facchini, , Nicholas Wood, Andrea Cortese, Henry Houlden, Arianna Tuc |
Effects of Genes, Lifestyles, and Noise Kurtosis on Noise-Induced Hearing Loss. Noise & health 2023 10 25 (118): 143-157. Xiaoyu Yin, Zheng Li, Tianyu Zhao, Lei Ya |
A Systematic Review on Heritability of Sudden Sensorineural Hearing Loss. The Laryngoscope 2024 1 . Mª Á Yélamos Lorente, Patricia Perez-Carpena, Jose A Lopez-Escam |
A Novel Deleterious MYO15A Gene Mutation Causes Nonsyndromic Hearing Loss. Iranian journal of otorhinolaryngology 2024 1 36 (1): 355-360. Mostafa Neissi, Adnan Issa Al-Badran, Javad Mohammadi-A |
Letter to the Editor: Depending on the Disease Stage and Modifying Factors, mtDNA-Associated Hearing Loss Can Occur With Many mtDNA Mutations. Journal of Korean medical science 2024 1 39 (3): e41. Josef Finster |
Rare Deletions or Large Duplications Contribute to Genetic Variation in Patients with Severe Tinnitus and Meniere Disease. Genes 2024 1 15 (1): . Alba Escalera-Balsera, Alberto M Parra-Perez, Alvaro Gallego-Martinez, Lidia Frejo, Juan Martin-Lagos, Victoria Rivero de Jesus, Paz Pérez-Vázquez, Patricia Perez-Carpena, Jose A Lopez-Escam |
MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population. BMC medical genomics 2024 1 17 (1): 32. Lang Zhang, Jin-Yuan Yang, Qiu-Quan Wang, Xue Gao, Guo-Jian Wang, Ming-Yu Han, Dong-Yang Kang, Dong-Yi Han, Sha-Sha Huang, Yong-Yi Yu |
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 |
Disease Manifestations and Complications in Dutch X-Linked Hypophosphatemia Patients. Calcified tissue international 2024 1 . A Bosman, N M Appelman-Dijkstra, A M Boot, M H de Borst, A C van de Ven, R T de Jongh, A Bökenkamp, J P van den Bergh, B C J van der Eerden, M C Zillike |
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 |
Plasma Glial Cell-Derived Neurotrophic Factor and Insulin-like Growth Factor-1 Levels Were Not Correlated with the Severity of Age-Related Hearing Impairment in Humans. ACS omega 2024 1 9 (1): 1757-1761. Pei-Shan Hsieh, Shang-Rung Hwang, Sheng-Wei Hwang, Juen-Haur Hwa |
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 |
Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111. American journal of medical genetics. Part A 2024 1 . Emma Lo, Justin Blair, Nobuko Yamamoto, Maria Alejandra Diaz-Miranda, Emma Bedoukian, Christopher Gray, Audrey Lawrence, Kavita Dedhia, Lisa M Elden, John A Germiller, Ken Kazahaya, Steven E Sobol, Minjie Luo, Ian D Krantz, Tiffiney R Hartm |
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- Page last updated:Mar 25, 2024
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