Human Genome Epidemiology Literature Finder
Records 1 - 21 (of 21 Records) |
Query Trace: Hearing Loss and PCDH15[original query] |
---|
The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa. Pediatric research 2004 Jun 55 (6): 995-1000. Brownstein Zippora, Ben-Yosef Tamar, Dagan Orit, Frydman Moshe, Abeliovich Dvorah, Sagi Michal, Abraham Fabian A, Taitelbaum-Swead Riki, Shohat Mordechai, Hildesheimer Minka, Friedman Thomas B, Avraham Karen |
Novel mutations in the USH1C gene in Usher syndrome patients. Molecular vision 2010 16 2948-54. Aparisi María José, García-García Gema, Jaijo Teresa, Rodrigo Regina, Graziano Claudio, Seri Marco, Simsek Tulay, Simsek Enver, Bernal Sara, Baiget Montserrat, Pérez-Garrigues Herminio, Aller Elena, Millán José Mar |
Genetic variations in protocadherin 15 and their interactions with noise exposure associated with noise-induced hearing loss in Chinese population. Environmental research 2014 Nov 135 247-52. Zhang Xuhui, Liu Yi, Zhang Lei, Yang Zhangping, Shao Yuxian, Jiang Caixia, Wang Qiang, Fang Xinyan, Xu Yuyang, Wang Hao, Zhang Shuai, Zhu Yim |
Targeted next generation sequencing for molecular diagnosis of Usher syndrome. Orphanet journal of rare diseases 2014 9 168. Aparisi María J, Aller Elena, Fuster-García Carla, García-García Gema, Rodrigo Regina, Vázquez-Manrique Rafael P, Blanco-Kelly Fiona, Ayuso Carmen, Roux Anne-Françoise, Jaijo Teresa, Millán José |
Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F. The Journal of molecular diagnostics : JMD 2014 Nov 16 (6): 673-8. Perreault-Micale Cynthia, Frieden Alexander, Kennedy Caleb J, Neitzel Dana, Sullivan Jessica, Faulkner Nicole, Hallam Stephanie, Greger Valer |
Mutation in PCDH15 may modify the phenotypic expression of the 7511T>C mutation in MT-TS1 in a Chinese Han family with maternally inherited nonsyndromic hearing loss. International journal of pediatric otorhinolaryngology 2015 Oct 79 (10): 1654-7. Chen Dong-Ye, Zhu Wei-Dong, Chai Yong-Chuan, Chen Ying, Sun Lianhua, Yang Tao, Wu H |
Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss. Genetic testing and molecular biomarkers 2016 Sep . Chen Siqi, Dong Cheng, Wang Qi, Zhong Zhen, Qi Yu, Ke Xiaomei, Liu Yu |
The Effect of PCDH15 Gene Variations on the Risk of Noise-induced Hearing Loss in a Chinese Population. Biomedical and environmental sciences : BES 2017 Feb 30 (2): 143-146. Xu Xiang Rong, Wang Jing Jing, Yang Qiu Yue, Jiao Jie, He Li Hua, Yu Shan Fa, Gu Gui Zhen, Chen Guo Shun, Zhou Wen Hui, Wu Hui, Li Yan Hong, Zhang Huan Ling, Zhang Zeng Rui, Jin Xian Ni |
STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2017 10 38 (10): e393-e400. Plevova Pavlina, Paprskarova Martina, Tvrda Petra, Turska Petra, Slavkovsky Rastislav, Mrazkova E |
[Association between variations in protocadherin 15 gene and occupational noise-induced hearing loss]. Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine] 2017 Jan 51 (1): 20-26. Xu X R, Yang Q Y, Jiao J, Zheng Y X, He L H, Yu S F, Gu G Z, Chen G S, Zhou W H, Wu H, Li Y H, Zhang H L, Zhang Z |
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients. Investigative ophthalmology & visual science 2018 Mar 59 (3): 1229-1237. Sun Tengyang, Xu Ke, Ren Yanfan, Xie Yue, Zhang Xiaohui, Tian Lu, Li Ya |
Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis. BioMed research international 2018 3 2018 3103986. Shang Haiqiong, Yan Denise, Tayebi Naeimeh, Saeidi Kolsoum, Sahebalzamani Afsaneh, Feng Yong, Blanton Susan, Liu Xuezho |
Effect of GRM7 polymorphisms on the development of noise-induced hearing loss in Chinese Han workers: a nested case-control study. BMC medical genetics 2018 Jan 19 (1): 4. Yu Peipei, Jiao Jie, Chen Guoshun, Zhou Wenhui, Zhang Huanling, Wu Hui, Li Yanhong, Gu Guizhen, Zheng Yuxin, Yu Yue, Yu Shan |
Genetic Screening of the Usher Syndrome in Cuba. Frontiers in genetics 2019 6 10 501. Santana Elayne E, Fuster-García Carla, Aller Elena, Jaijo Teresa, García-Bohórquez Belén, García-García Gema, Millán José M, Lantigua Arace |
Screening of noise-induced hearing loss (NIHL)-associated SNPs and the assessment of its genetic susceptibility. Environmental health : a global access science source 2019 Apr 18 (1): 30. Zhang Xuhui, Ni Yaqin, Liu Yi, Zhang Lei, Zhang Meibian, Fang Xinyan, Yang Zhangping, Wang Qiang, Li Hao, Xia Yuyong, Zhu Yim |
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 |
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 |
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes. Genes 2022 8 13 (8): . Feenstra Helena M, Al-Khuzaei Saoud, Shah Mital, Broadgate Suzanne, Shanks Morag, Kamath Archith, Yu Jing, Jolly Jasleen K, MacLaren Robert E, Clouston Penny, Halford Stephanie, Downes Susan |
Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation. International journal of pediatric otorhinolaryngology 2022 7 159 111218. Elander Johanna, Ullmark Tove, Ehrencrona Hans, Jonson Tord, Piccinelli Paul, Samuelsson Sofie, Löwgren Karolina, Falkenius-Schmidt Karolina, Ehinger Johannes, Stenfeldt Karin, Värendh Mar |
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 |
The association of genetic polymorphisms in protocadherin 15 with sudden sensorineural hearing loss in a Chinese population. Journal of clinical laboratory analysis 2023 5 e24896. Ying Lan, Tao Hou, Lu Peng, Yongpeng Li, Shihua Y |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
- Content source: