Human Genome Epidemiology Literature Finder
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Records 1 - 11 (of 11 Records) |
| Query Trace: Disease and COMP[original query] |
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| Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations. American journal of medical genetics. Part A 2004 Aug 129A (1): 35-8. Mabuchi Akihiko, Momohara Shigeki, Ohashi Hirofumi, Takatori Yoshio, Haga Nobuhiko, Nishimura Gen, Ikegawa Shi |
| Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. European journal of human genetics : EJHG 2005 Mar 13 (3): 292-301. Jakkula Eveliina, Mäkitie Outi, Czarny-Ratajczak Malwina, Czarny-Ratacjzak Malwina, Jackson Gail C, Damignani Rita, Susic Miki, Briggs Michael D, Cole William G, Ala-Kokko Lee |
| Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. European journal of human genetics : EJHG 2014 Jan 22 (1): 79-87. Wiszniewska Joanna, Bi Weimin, Shaw Chad, Stankiewicz Pawel, Kang Sung-Hae L, Pursley Amber N, Lalani Seema, Hixson Patricia, Gambin Tomasz, Tsai Chun-hui, Bock Hans-Georg, Descartes Maria, Probst Frank J, Scaglia Fernando, Beaudet Arthur L, Lupski James R, Eng Christine, Cheung Sau Wai, Bacino Carlos, Patel Anki |
| Functional Changes in the Language Network in Response to Increased Amyloid ß Deposition in Cognitively Intact Older Adults. Cerebral cortex (New York, N.Y. : 1991) 2014 Dec . Adamczuk Katarzyna, De Weer An-Sofie, Nelissen Natalie, Dupont Patrick, Sunaert Stefan, Bettens Karolien, Sleegers Kristel, Van Broeckhoven Christine, Van Laere Koen, Vandenberghe R |
| A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia. Human genome variation 2016 3 16009. Luo Huaichao, Yu Sisi, Lin Ying, Guo Qi, Ma Rongchuan, Ye Zimeng, Di Yanan, Li Ning, Miao Yuanying, Zhou Yu, Li Yuanfeng, Yang Jiyun, Yang Zhengl |
| Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia. American journal of medical genetics. Part A 2019 2 179 (4): 534-541. Dasa Vinod, Eastwood James R B, Podgorski Michal, Park Heewon, Blackstock Christopher, Antoshchenko Tetyana, Rogala Piotr, Bieganski Tadeusz, Jazwinski S Michal, Czarny-Ratajczak Malwi |
| [Lipoprotein(?) Level, Apolipoprotein(?) Polymorphism ?nd Auto?ntibodies Against Lipoprotein(?) in Patients with Stenotic C?rotid Atherosclerosis]. Kardiologiia 2019 Dec 59 (12): 20-27. Tmoyan N A, Afanasieva O I, Ezhov M V, Klesareva E A, Afanasieva M I, Razova O A, Balakhonova T V, Pokrovsky S |
| Identifying the role of ASPN and COMP genes in knee osteoarthritis development. Journal of orthopaedic surgery and research 2019 Oct 14 (1): 337. Mishra Abhishek, Awasthi Sachin, Raj Saloni, Mishra Priya, Srivastava Rajeshwar Na |
| Increased CRP, anti-CCP antibody, IL-2R, COMP levels in prognosis of post-chikungunya chronic arthritis and protective role of their specific genotypes against arthritic manifestation. Virus research 2022 11 323 198998. Sengupta Siddhartha, Bhattacharya Nemai, Tripathi Anus |
| Clinical and genetic evaluation of children with short stature of unknown origin. BMC medical genomics 2023 8 16 (1): 194. Qianqian Zhao, Yanying Li, Qian Shao, Chuanpeng Zhang, Shuang Kou, Wanling Yang, Mei Zhang, Bo B |
| Inherited Variants in the COL11A, COL1A, COL5A1, COMP, GSTM1 Genes and the Risk of Carpal Tunnel Syndrome. Handchirurgie, Mikrochirurgie, plastische Chirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Handchirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Mikrochirurgie der Peripheren Nerven und Gefasse : Organ der V... 2024 9 56 (5): 359-367. Andrzej Zyluk, Tadeusz Debniak, Filip Flicinski, Helena Rudnic |
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