Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: Hearing Loss and OTOA[original query] |
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Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss. Genetic testing and molecular biomarkers 2014 Sep 18 (9): 658-61. Bademci Guney, Diaz-Horta Oscar, Guo Shengru, Duman Duygu, Van Booven Derek, Foster Joseph, Cengiz Filiz Basak, Blanton Susan, Tekin Musta |
Copy number variants are a common cause of non-syndromic hearing loss. Genome medicine 2014 6 (5): 37. Shearer A Eliot, Kolbe Diana L, Azaiez Hela, Sloan Christina M, Frees Kathy L, Weaver Amy E, Clark Erika T, Nishimura Carla J, Black-Ziegelbein E Ann, Smith Richard J |
Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss. BMC genomics 2014 15 (1): 1155. Haraksingh Rajini R, Jahanbani Fereshteh, Rodriguez-Paris Juan, Gelernter Joel, Nadeau Kari C, Oghalai John S, Schrijver Iris, Snyder Michael |
Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss. Genes 2019 9 10 (9): . Sugiyama Kenjiro, Moteki Hideaki, Kitajiri Shin-Ichiro, Kitano Tomohiro, Nishio Shin-Ya, Yamaguchi Tomomi, Wakui Keiko, Abe Satoko, Ozaki Akiko, Motegi Remi, Matsui Hirooki, Teraoka Masato, Kobayashi Yumiko, Kosho Tomoki, Usami Shin-Ic |
Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan. Scientific reports 2020 7 10 (1): 11902. Ramzan Memoona, Bashir Rasheeda, Salman Midhat, Mujtaba Ghulam, Sobreira Nara, Witmer P Dane, , Naz Sad |
Next-generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss. Molecular genetics & genomic medicine 2020 Oct e1539. Xiang Yan-Bao, Xu Chen-Yang, Xu Yun-Zhi, Li Huan-Zheng, Zhou Li-Li, Xu Xue-Qin, Chen Zi-Hui, Tang Shao-H |
Is it time to report carrier state for recessive disorders in every microarray analysis?-A pilot model based on hearing loss genes deletions. European journal of human genetics : EJHG 2021 3 29 (8): 1292-1300. Maya Idit, Basel-Salmon Lina, Sagi-Dain Le |
Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families. Clinica chimica acta; international journal of clinical chemistry 2022 5 532 53-60. Pan Jianyan, Ma Shanshan, Teng Yanling, Liang Desheng, Li Zhuo, Wu Lingqi |
Genetic profiles of non-syndromic severe-profound hearing loss in Chinese Hans by whole-exome sequencing. Gene 2022 2 819 146258. Liu Ya, Tan Meihua, Cai Luhang, Lv Lihui, Chen Qingqing, Chen Wei, Yang Hang, Xu Yapi |
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 |
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 |
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- Page last updated:Apr 29, 2024
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