Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 46 Records) |
Query Trace: Hearing and MYO15A[original query] |
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Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss. BMC medical genetics 2019 4 20 (1): 60. Zhang Jing, Guan Jing, Wang Hongyang, Yin Linwei, Wang Dayong, Zhao Lidong, Zhou Huifang, Wang Qiu |
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 |
[Analysis of MYO15A variation in children with DFNB3]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2020 9 58 (10): 818-823. Ren S M, Wu Q H, Jiao Z H, Chen Y B, Chen C, Kong X D, Qin Z |
The worldwide frequency of MYO15A gene mutations in patients with non-syndromic hearing loss: A meta-analysis. Iranian journal of basic medical sciences 2020 8 23 (7): 841-848. Farjami Mahsa, Assadi Reza, Afzal Javan Fahimeh, Alimardani Malihe, Eslami Saeid, Mansoori Derakhshan Sima, Eslahi Atieh, Mojarrad Maj |
Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations in MYO15A as the Probable Cause of Nonsyndromic Deafness in a Chinese Han Family. Neural plasticity 2020 7 2020 6350479. Wang Longhao, Zhao Lin, Peng Hu, Xu Jun, Lin Yun, Yang Tao, Wu H |
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss. Clinical genetics 2020 4 98 (1): 32-42. Budde Birgit S, Aly Maha Abdelgaber, Mohamed Mostafa R, Breß Andreas, Altmüller Janine, Motameny Susanne, Kawalia Amit, Thiele Holger, Konrad Kathryn, Becker Christian, Toliat Mohammad R, Nürnberg Gudrun, Sayed Eman Abdel Fattah, Mohamed Enass Sayed, Pfister Markus, Nürnberg Pet |
Genetic testing has the potential to impact hearing preservation following cochlear implantation. Acta oto-laryngologica 2020 3 140 (6): 438-444. Yoshimura Hidekane, Moteki Hideaki, Nishio Shin-Ya, Miyajima Hiroki, Miyagawa Maiko, Usami Shin-Ic |
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 |
Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon. Human molecular genetics 2020 Oct . Wonkam Ambroise, Manyisa Noluthando, Bope Christian D, Dandara Collet, Chimusa Emile |
Investigation of MYO15A and MYO7A Mutations in Iranian Patients with Nonsyndromic Hearing Loss. Fetal and pediatric pathology 2020 1 40 (2): 121-130. Farjami Mahsa, Fathi Mozhgan, Ghasemi Mohammad Mehdi, Rajati Mohsen, Eslahi Atieh, Alimardani Malihe, Mojarrad Maj |
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 |
Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China. Frontiers in genetics 2021 12 637096. Cai Luhang, Liu Ya, Xu Yaping, Yang Hang, Lv Lihui, Li Yang, Chen Qiongqiong, Lin Xiaojiang, Yang Yihui, Hu Guangwei, Zheng Guofeng, Zhou Jing, Qian Qiyong, Xu Mei-Ai, Fang Jin, Ding Jianjun, Chen Wei, Gao Jio |
Whole exome sequencing of six Chinese families with hereditary non-syndromic hearing loss. International journal of pediatric otorhinolaryngology 2021 7 148 110817. Liang Pengfei, Chen Fengping, Wang Shujuan, Li Qiong, Li Wei, Wang Jian, Chen Jun, Zha Dingj |
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 |
Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity. Frontiers in genetics 2021 6 12 641925. Fareed Mohd, Sharma Varun, Singh Inderpal, Rehman Sayeed Ur, Singh Gurdarshan, Afzal Mohamm |
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria. European journal of human genetics : EJHG 2021 Nov . Adeyemo Adebolajo, Faridi Rabia, Chattaraj Parna, Yousaf Rizwan, Tona Risa, Okorie Samuel, Bharadwaj Thashi, Nouel-Saied Liz M, Acharya Anushree, Schrauwen Isabelle, Morell Robert J, Leal Suzanne M, Friedman Thomas B, Griffith Andrew J, Roux Isabel |
Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss. Scientific reports 2021 11 11 (1): 22488. Pavlenkova Zuzana, Varga Lukas, Borecka Silvia, Karhanek Miloslav, Huckova Miloslava, Skopkova Martina, Profant Milan, Gasperikova Danie |
PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India. Annals of human genetics 2021 Aug . Vanniya S Paridhy, Chandru Jayasankaran, Jeffrey Justin Margret, Rabinowitz Tom, Brownstein Zippora, Krishnamoorthy Mathuravalli, Avraham Karen B, Cheng Le, Shomron Noam, Srisailapathy C R Srikuma |
Molecular diagnose of a large hearing loss population from China by targeted genome sequencing. Journal of human genetics 2022 8 67 (11): 643-649. Wu Jie, Cao Zongfu, Su Yu, Wang Yang, Cai Ruikun, Chen Jiyue, Gao Bo, Han Mingyu, Li Xiaohong, Zhang DeJun, Gao Xue, Huang Shasha, Huang Quanfei, Yuan Yongyi, Ma Xu, Dai |
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 |
Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study. Cytogenetic and genome research 2022 5 162 (1-2): 1-9. Reis Cláudia Sousa, Quental Sofia, Fernandes Susana, Castedo Sérgio, Moura Carla Pin |
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 |
Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients. BMC medical genomics 2022 3 15 (1): 71. Fu Ying, Huang Shasha, Gao Xue, Han Mingyu, Wang Guojian, Kang Dongyang, Yuan Yongyi, Dai |
Report of rare and novel mutations in candidate genes in a cohort of hearing-impaired patients. Molecular genetics & genomic medicine 2022 2 10 (4): e1887. Liu Min, Liang Yue, Huang Bixue, Sun Jincangjian, Chen Kaiti |
Molecular etiology study of hearing loss in 13 Chinese Han families. Frontiers in neurology 2022 12 13 1048218. Sun Lianhua, Lin Zhengyu, Wang Xiaowen, Shen Jiali, Li Yue, Huang Yuyu, Yang J |
Hearing Features and Cochlear Implantation Outcomes in Patients With Pathogenic MYO15A Variants: a Multicenter Observational Study. Ear and hearing 2022 1 43 (4): 1198-1207. Chen Pey-Yu, Tsai Cheng-Yu, Wu Jiunn-Liang, Li Yi-Lu, Wu Che-Ming, Chen Kuang-Chao, Hwang Chung-Feng, Wu Hung-Pin, Lin Hung-Ching, Cheng Yen-Fu, Lo Ming-Yu, Liu Tien-Chen, Yang Ting-Hua, Chen Pei-Lung, Hsu Chuan-Jen, Wu Chen-C |
Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families. Human genomics 2023 5 17 (1): 42. Maria Asaad, Mona Mahfood, Abdullah Al Mutery, Abdelaziz Tli |
Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia-Alania. PeerJ 2023 2 11 e14514. Petrova Nika, Tebieva Inna, Kadyshev Vitaly, Getoeva Zalina, Balinova Natalia, Marakhonov Andrey, Vasilyeva Tatyana, Ginter Evgeny, Kutsev Sergey, Zinchenko Re |
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel. Human genomics 2023 1 17 (1): 1. Ma Jing, Ma Xiuli, Lin Ken, Huang Rui, Bi Xianyun, Ming Cheng, Li Li, Li Xia, Li Guo, Zhao Liping, Yang Tao, Gao Yingqin, Zhang Tieso |
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 |
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- Page last updated:Apr 22, 2024
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