Human Genome Epidemiology Literature Finder
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Records 1 - 23 (of 23 Records) |
| Query Trace: Disease and PCDH15[original query] |
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| A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia. Human genetics 2010 Jan 127 (1): 83-9. Huertas-Vazquez Adriana, Plaisier Christopher L, Geng Ruishuang, Haas Blake E, Lee Jenny, Greevenbroek Marleen M, van der Kallen Carla, de Bruin Tjerk W A, Taskinen Marja-Riitta, Alagramam Kumar N, Pajukanta Päi |
| Fine mapping of the chromosome 10q11-q21 linkage region in Alzheimer's disease cases and controls. Neurogenetics 2010 Jul 11 (3): 335-48. Fallin Margaret Daniele, Szymanski Megan, Wang Ruihua, Gherman Adrian, Bassett Susan S, Avramopoulos Dimitri |
| Novel human genetic variants associated with extrapulmonary tuberculosis: a pilot genome wide association study. BMC research notes 2011 4 (1): 28. Oki Noffisat O, Motsinger-Reif Alison A, Antas Paulo Rz, Levy Shawn, Holland Steven M, Sterling Timothy |
| 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 |
| 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 |
| Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. Orphanet journal of rare diseases 2015 10 (1): 110. Jiang Lichun, Liang Xiaofang, Li Yumei, Wang Jing, Zaneveld Jacques Eric, Wang Hui, Xu Shan, Wang Keqing, Wang Binbin, Chen Rui, Sui Ruifa |
| 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 |
| 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 |
| Exome sequencing study of 20 patients with high myopia. PeerJ 2018 9 6 e5552. Wan Ling, Deng Boling, Wu Zhengzheng, Chen Xiaomi |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation. Translational vision science & technology 2024 8 13 (8): 44. Maria Cristina Savastano, Giorgio Placidi, Claudia Fossataro, Federico Giannuzzi, Nicola Claudio D'Onofrio, Lorenzo Hu, Valentina Cestrone, Elena D'Agostino, Ilaria Biagini, Ludovica Paris, Giorgia Coppa, Clara Rizzo, Raphael Kilian, Pietro Chiurazzi, Matteo Bertelli, Paolo Enrico Maltese, Benedetto Falsini, Stanislao Riz |
| Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia. Croatian medical journal 2024 6 65 (3): 198-208. Ivona Sansovi?, Ana-Maria Meaši?, Adriana Bobinec, Leona Morožin Pohovski, Ljubica Odak, Katarina Vulin, Bernarda Lozi?, Mijana Kero, Sanda Huljev Frkovi?, Silvija Pušelj |
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