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| 1 | 国际卒中遗传学联盟的推荐意见(第1部分):标准化表型数据收集显示文摘与几乎所有复杂疾病一样,卒中的患病风险和临床转归也是多基因作用的[1]。探索相关基因突变有望为新型个体化治疗方法奠定基础,从而显著减少卒中对全球健康造成的毁灭性影响。为了达到足够的统计学效能以确认多个风险性等位基因,需要很大的样本量。尽管卒中是全世界范围内第二大致死病因和成年人致残的主要原因[2],但没有任何一家研究机构能独立收集到足够的样本。在认识到这一挑战之后,来自世界各地的卒中研究者们于2007年成立了国际卒中遗传学联盟( International Stroke Genetics Consortium, ISGC; http://www. strokegenetics.org),其使命是通过研究在全球多个研究机构入组的患者来识别影响卒中患病风险、临床预后和治疗效果的遗传学因素。尽管先前已取得了一些成功[3-5],仍有大量工作有待进行,这不仅是为了发现风险性等位基因从而达到卒中个体化医疗的最终目标,更是为了开发综合性卒中风险评估手段以及得到足以改变临床实践的结果[6]。根据糖尿病和冠状动脉疾病等其他复杂疾病的研究进展,为了识别与卒中相关的所有基因突变,需要100000~200000个样本。为了达到这个样本量,需要进行更为广泛的协作。 | Jennifer J. Majersik John W.Cole Jonathan Golledge Natalia S. Rost Yu-Feng Yvonne Chan M. Edip Gurol Ame G. Lindgren Daniel Woo Israel Fernandez-Cadenas Donna T. Chen Vincent Thijs Bradford B. Worrall Ayeesha Kamal Paul Bentley Joanna M. Wardlaw Ynte M. Ruigrok Thomas W.K Battey Reinhold Schmidt Joan Montaner Anne-Katrin Giese Jaume Roquer Jordi Jimenez-Conde Chaeyoung Lee Hakan Ay Juan Jose Martin 李海峰 岳耀先 徐军 | 2015 | 国际脑血管病杂志2015，23，9： | 3 |
| 2 | From trousseau to targeted therapy: new insights and innovations in thrombosis and cancer 显示文摘 | Levine MN Lee AY Kakkar AK | 2005 | J Thromb2005，73，： | 1 |
| 3 | The Gardenia jasminoides extract and its constituent, geniposide, elicit anti-allergic effects on atopic dermatitis by inhibiting histamine in vitro and in vivo 显示文摘 | Sung YY Lee AY Kim HK | 2014 | J Ethnopharmacol2014，156，： | 1 |
| 4 | Digital Tomosynthesis to Evaluate Fracture Healing: Prospective Comparison With Radiography and CT 显示文摘 | Ha AS Lee AY Hippe DS | 2015 | AJR Am J Roentgenol2015，205，1： | 1 |
| 5 | Heteroresistance of Helicobacter pylori from the same patient prior to antibiotic treatment 显示文摘 | Kao CY Lee AY Huang AH | 2014 | Infect Genet Evol2014，23，： | 1 |
| 6 | How we diagnosis and treat deep vein thrombosis显示文摘 | HIRSH J LEE AY | 2002 | Blood2002，99，9： | 1 |
| 7 | Utility of FDG PET/CT in the assessment of myeloid sarcoma显示文摘 | Lee EY Anthony MP Leung AY | 2012 | Am J Roentgenol2012，198，5： | 1 |
| 8 | Reduced WIF-1 expression stimulates skin hyperpigmentation in patients with melasma显示文摘 | Kim JY Lee TR Lee AY | 2013 | J Invest Dermatol2013，133，1： | 1 |
| 9 | HS1 -associated protein X-l iscleaved by Caspase-3 during apo ptosis 显示文摘 | Lee AY Lee Y Park YK | 2008 | Mol Cells2008，25，1： | 1 |
| 10 | A report of two families with sarcosinaemia in Hong Kong and revisiting the pathogenetic potential of hypersarcosinaemia 显示文摘 | Lee SY Chan KY Chan AY | 2006 | Ann Acad Med Singapore2006，35，8： | 1 |
| 11 | How we diagnose and treat deep vein thrombosis 显示文摘 | Hirsh J Lee AY | 2002 | Blood2002，99，9： | 1 |
| 12 | Temporal, spatial, and cell type-specific control of Cre-mediated DNA recombination in transgenic mice显示文摘 | Utomo ARH Nikitin AY Lee WH | 1999 | Nature Biotech1999，17，： | 1 |
| 13 | Brd4 links chromatin targeting to HPV transcriptional silencing 显示文摘 | Wu SY Lee AY Hou SY | 2006 | Genes Dev2006，20，： | 1 |
| 14 | Epidemiology and management of venous thromboembolism in patients with cancey显示文摘 | Lee AY | 2003 | Thromb Res2003，110，4： | 1 |
| 15 | PPARdelta agonist-mediated ROS stimulates mouse embryonic stem cell proliferation through co- operation of p38 MAPK and Wnt/beta-catenin 显示文摘 | Jeong AY Lee MY Lee SH | 2009 | Cell Cycle2009，8，4： | 1 |
| 16 | Venous thromboembolism and cancer: risk sand outcomes显示文摘 | Lee AY Levine MN | 2003 | Circulation2003，107，： | 1 |
| 17 | 5-Aza-2'-deoxycytidine-in- dueed genome rearrangements are mediated by DNMT1 显示文摘 | Maslov AY Lee M Gundry M | 2012 | Oneo- gene2012，31，： | 1 |
| 18 | Effects of interferon-alpha2b on keloidtreatment with triamcinolone acetonide intmlesional injection 显示文摘 | Lee JH Kim SE Lee AY | 2008 | Int J Dermatol2008，47，2： | 1 |
| 19 | The role of DNA in the diagnosis of venous thromoembolism显示文摘 | Ginsbery JS | 1997 | Curr Opin Pulm Med1997，3，4： | 1 |
| 20 | Demonstration that polyol accumulation is responsible for diabetic cataract by the use of transgenic mice expressing the aldose reductase gene in the lens 显示文摘 | Lee AY Chung SK Chung SS | 1995 | Proc Natl Acad Sci U S A1995，92，7： | 1 |
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