Human Genome Epidemiology Literature Finder
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Records 1 - 9 (of 9 Records) |
| Query Trace: Hearing Loss and EYA1[original query] |
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| Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes. Human genetics 2013 Dec 132 (12): 1339-50. Brophy Patrick D, Alasti Fatemeh, Darbro Benjamin W, Clarke Jason, Nishimura Carla, Cobb Bryan, Smith Richard J, Manak J Robe |
| Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population. Scientific reports 2019 Feb 9 (1): 1604. Han Jae Joon, Nguyen Pham Dinh, Oh Doo-Yi, Han Jin Hee, Kim Ah-Reum, Kim Min Young, Park Hye-Rim, Tran Lam Huyen, Dung Nguyen Huu, Koo Ja-Won, Lee Jun Ho, Oh Seung Ha, Anh Vu Hoang, Choi Byung Yo |
| Targeted next-generation sequencing identifies a novel frameshift EYA1 variant causing branchio-otic syndrome in a Chinese family. International journal of pediatric otorhinolaryngology 2020 7 138 110202. Xing Zhan-Kui, Wang Su-Yang, Xia Xin, Ding Wen-Juan, Duan Lei, Cui Xiao, Xu Bai-Cheng, Zhu Yi-Ming, Liu Xiao-W |
| Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations. Orphanet journal of rare diseases 2020 Jan 15 (1): 29. Yu Xiaoyu, Lin Yun, Xu Jun, Che Tuanjie, Li Lin, Yang Tao, Wu H |
| The Cochlea in Branchio-Oto-Renal Syndrome: An Objective Method for the Diagnosis of Offset Cochlear Turns. AJNR. American journal of neuroradiology 2022 9 43 (11): 1646-1652. Juliano A F, D'Arco F, Pao J, Picariello S, Clement E, Moonis G, Robson C |
| 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 |
| 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 |
| The genes for sensory perception of sound should be considered in gene diagnosis of congenital sensorineural hearing loss and microtia. Journal of applied genetics 2022 1 63 (2): 327-337. Lin Ken, You Ding-Yun, Zhang Li-Huan, Zhou Li-Juan, Zu Jin-Yan, Xiao Yang, Sun Mei-Hua, Dong-Su , Cao Xue, Zhang Tie-Song, Ma Ji |
| The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation. Genes 2023 2 14 (2): . Ba?dyga Natalia, Ozi?b?o Dominika, Gan Nina, Furmanek Mariusz, Leja Marcin L, Skar?y?ski Henryk, O?dak Moni |
- Page last reviewed:Feb 1, 2024
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