Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: Hearing Loss and MYO6[original query] |
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The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss. Open biology 2014 Jul 4 (7): . Kwon Tae-Jun, Oh Se-Kyung, Park Hong-Joon, Sato Osamu, Venselaar Hanka, Choi Soo Young, Kim SungHee, Lee Kyu-Yup, Bok Jinwoong, Lee Sang-Heun, Vriend Gert, Ikebe Mitsuo, Kim Un-Kyung, Choi Jae You |
Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics. The Annals of otology, rhinology, and laryngology 2015 May 124 Suppl 1 148S-57S. Miyagawa Maiko, Nishio Shin-Ya, Kumakawa Kozo, Usami Shin-Ic |
A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study. The journal of gene medicine 2018 4 20 (6): e3019. Kim Bong Jik, Han Jin Hee, Park Hye-Rim, Kim Min Young, Kim Ah Reum, Oh Seung-Ha, Park Woong-Yang, Oh Doo Yi, Lee Seungmin, Choi Byung Yo |
Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss. Fetal and pediatric pathology 2019 Apr 38 (2): 93-102. Alimardani Maliheh, Hosseini Seyed Mojtaba, Khaniani Mahmoud Shekari, Haghi Mohsen Rajati, Eslahi Atieh, Farjami Mashsa, Chezgi Javad, Derakhshan Sima Mansoori, Mojarrad Maj |
Identification of MYO6 copy number variation associated with cochlear aplasia by targeted sequencing. International journal of pediatric otorhinolaryngology 2019 12 128 109689. Sun Lianhua, Wang Xiaowen, Hou Shule, Liang Min, Yang J |
High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2021 Mar . Frohne Alexandra, Koenighofer Martin, Liu David Tianxiang, Laccone Franco, Neesen Juergen, Gstoettner Wolfgang, Schoefer Christian, Lucas Trevor, Frei Klemens, Parzefall Thom |
Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes. Orphanet journal of rare diseases 2022 3 17 (1): 114. Mutai Hideki, Momozawa Yukihide, Kamatani Yoichiro, Nakano Atsuko, Sakamoto Hirokazu, Takiguchi Tetsuya, Nara Kiyomitsu, Kubo Michiaki, Matsunaga Tats |
Rare-variant association analysis reveals known and new age-related hearing loss genes. European journal of human genetics : EJHG 2023 2 . Cornejo-Sanchez Diana M, Li Guangyou, Fabiha Tabassum, Wang Ran, Acharya Anushree, Everard Jenna L, Kadlubowska Magda K, Huang Yin, Schrauwen Isabelle, Wang Gao T, DeWan Andrew T, Leal Suzanne |
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes. JAMA otolaryngology-- head & neck surgery 2023 1 149 (3): 212-222. Carlson Ryan J, Walsh Tom, Mandell Jessica B, Aburayyan Amal, Lee Ming K, Gulsuner Suleyman, Horn David L, Ou Henry C, Sie Kathleen C Y, Mancl Lisa, Rubinstein Jay, King Mary-Clai |
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