Human Genome Epidemiology Literature Finder
Records 1 - 15 (of 15 Records) |
Query Trace: 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 |
Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing. Molecular genetics & genomic medicine 2015 May 3 (3): 189-96. Ammar-Khodja Fatima, Bonnet Crystel, Dahmani Malika, Ouhab Sofiane, Lefèvre Gaelle M, Ibrahim Hassina, Hardelin Jean-Pierre, Weil Dominique, Louha Malek, Petit Christi |
Targeted next-generation sequencing and parental genotyping in sporadic Chinese Han deaf patients. Clinical genetics 2017 11 93 (4): 899-904. He L, Pang X, Liu H, Chai Y, Wu H, Yang |
Identification of Key Genes and Pathways Associated with RUNX1 Mutations in Acute Myeloid Leukemia Using Bioinformatics Analysis. Medical science monitor : international medical journal of experimental and clinical research 2018 Oct 24 7100-7108. Zhu Fangxiao, Huang Rui, Li Jing, Liao Xiwen, Huang Yumei, Lai Yongro |
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 |
Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population. Journal of advanced research 2021 7 31 13-24. Souissi Amal, Ben Said Mariem, Ben Ayed Ikhlas, Elloumi Ines, Bouzid Amal, Mosrati Mohamed Ali, Hasnaoui Mehdi, Belcadhi Malek, Idriss Nabil, Kamoun Hassen, Gharbi Nourhene, Gibriel Abdullah A, Tlili Abdelaziz, Masmoudi Sab |
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 22, 2024
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