Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 44 Records) |
Query Trace: PCDH15[original query] |
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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 |
Investigation of Rare Single-Nucleotide PCDH15 Variants in Schizophrenia and Autism Spectrum Disorders. PloS one 2016 11 (4): e0153224. Ishizuka Kanako, Kimura Hiroki, Wang Chenyao, Xing Jingrui, Kushima Itaru, Arioka Yuko, Oya-Ito Tomoko, Uno Yota, Okada Takashi, Mori Daisuke, Aleksic Branko, Ozaki Nor |
Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders.
Nature genetics 2017 Jan 49 (1): 152-156. Lo Min-Tzu, Hinds David A, Tung Joyce Y, Franz Carol, Fan Chun-Chieh, Wang Yunpeng, Smeland Olav B, Schork Andrew, Holland Dominic, Kauppi Karolina, Sanyal Nilotpal, Escott-Price Valentina, Smith Daniel J, O'Donovan Michael, Stefansson Hreinn, Bjornsdottir Gyda, Thorgeirsson Thorgeir E, Stefansson Kari, McEvoy Linda K, Dale Anders M, Andreassen Ole A, Chen Chi-H |
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 |
Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia. Oncotarget 2017 Sep 8 (38): 63324-63332. Wang Pu, Fan Xinmiao, Wang Yibei, Fan Yue, Liu Yaping, Zhang Shuyang, Chen Xiaow |
[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 |
Exome sequencing study of 20 patients with high myopia. PeerJ 2018 9 6 e5552. Wan Ling, Deng Boling, Wu Zhengzheng, Chen Xiaomi |
Elucidating therapeutic molecular targets in premenopausal Asian women with recurrent breast cancers. NPJ breast cancer 2018 4 19. Yap Yoon-Sim, Singh Angad P, Lim John H C, Ahn Jin-Hee, Jung Kyung-Hae, Kim Jeongeun, Dent Rebecca A, Ng Raymond C H, Kim Sung-Bae, Chiang Derek |
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 |
Targeted next generation sequencing reveals OTOF mutations in auditory neuropathy spectrum disorder. International journal of pediatric otorhinolaryngology 2018 10 115 19-23. Chen Kaitian, Liu Min, Wu Xuan, Zong Ling, Jiang Hongy |
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 |
Whole-exome sequencing for ocular adnexal sebaceous carcinoma suggests PCDH15 as a novel mutation associated with metastasis. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2020 Jan . Xu Shiqiong, Moss Tyler J, Laura Rubin Maria, Ning Jing, Eterovic Karina, Yu Hong, Jia Renbing, Fan Xianqun, Tetzlaff Michael T, Esmaeli Bi |
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 |
A linkage and exome study of multiplex families with bipolar disorder implicates rare coding variants of ANK3 and additional rare alleles at 10q11-q21. Journal of psychiatry & neuroscience : JPN 2021 Mar 46 (2): E247-E257. Toma Claudio, Shaw Alex D, Heath Anna, Pierce Kerrie D, Mitchell Philip B, Schofield Peter R, Fullerton Janice |
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 |
Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon. Frontiers in genetics 2022 6 13 864228. Jaffal Lama, Akhdar Hanane, Joumaa Hawraa, Ibrahim Mariam, Chhouri Zahraa, Assi Alexandre, Helou Charles, Lee Hane, Seo Go Hun, Joumaa Wissam H, El Shamieh Sa |
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 |
A Common Variant in the CDK8 Gene Is Associated with Sporadic Pituitary Adenomas in the Portuguese Population: A Case-Control Study. International journal of molecular sciences 2022 10 23 (19): . Gaspar Leonor M, Gonçalves Catarina I, Fonseca Fernando, Carvalho Davide, Cortez Luísa, Palha Ana, Barros Inês F, Nobre Ema, Duarte João S, Amaral Cláudia, Bugalho Maria J, Marques Olinda, Pereira Bernardo D, Lemos Manuel |
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 |
Identification of methyltransferase modification genes associated with prognosis and immune features of pancreatic adenocarcinoma. Molecular and cellular probes 2023 2 67 101897. Wang Wentao, Zhang Dongyuan, Chang Donglei, Li Yupeng, Ren L |
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases. Investigative ophthalmology & visual science 2023 2 64 (2): 5. Li Wei, He Xiang-Dong, Yang Zheng-Tao, Han Dong-Ming, Sun Yan, Chen Yan-Xian, Han Xiao-Tong, Guo Si-Cheng, Ma Yu-Ting, Jin Xin, Yang Huan-Ming, Gao Ya, Wang Zhuo-Shi, Li Jian-Kang, He W |
Integrated Genomic Analysis of Primary Prostate Tumor Foci and Corresponding Lymph Node Metastases Identifies Mutations and Pathways Associated with Metastasis. Cancers 2023 12 15 (23): . Carlos S Moreno, Cynthia L Winham, Mehrdad Alemozaffar, Emma R Klein, Ismaheel O Lawal, Olayinka A Abiodun-Ojo, Dattatraya Patil, Benjamin G Barwick, Yijian Huang, David M Schuster, Martin G Sanda, Adeboye O Osunko |
Screening of genes interacting with high myopia and neuropsychiatric disorders. Scientific reports 2023 10 13 (1): 18347. Yang Liu, Yang Liu, Wen Zhang, Zhong-Qi Xue, Fang-Xia Zhang, Wei-Gang Xu, Wen-Juan Zhua |
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- Page last updated:Apr 22, 2024
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