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37篇 您的检索式:作者名="Asselta"
    题名 作者 年代 出处 被引量
1胆固醇酯转移蛋白基因的蛋白质截断型变异体与冠状动脉性心脏病风险的关系显示文摘随机对照试验结果表明,抑制胆固醇酯转运蛋白(cholesteryl ester transfer protein,CETP)的疗法并不能降低冠状动脉性心脏病(coronary heart disease,CHD)的发生风险。研究失败的可能原因包括靶目标无效、靶目标外小分子的不良反应和随机对照设计因素影响等。在编码药物靶点的基因中具有天然存在的遗传变异,以此为基础,人类研究可以深入了解针对基因产物的治疗的潜在功效和安全性。Nomura A Won HH Khera AV Takeuchi F Ito K McCarthy S Emdin CA Klarin D Natarajan P Zekavat SM Gupta N Peloso GM Borecki IB Teslovich TM Asselta R Duga S Merlini PA Correa A Kessler T Wilson JG Bown MJ Hall AS Braund PS Carey DJ Murray MF Kirchner HL Leader JB Lavage DR Manus JN Hartze DN Samani NJ Schunkert H Marrugat J Elosua R McPherson R Farrall M Watkins H Juang JJ Hsiung CA Lin SY Wang JS Tada H Kawashiri MA Inazu A Yamagishi M Katsuya T Nakashima E Nakatochi M Yamamoto K Yokota M Momozawa Y Rotter JI Lander ES Rader DJ Danesh J Ardissino D Gabriel S Willer CJ Abecasis GR Saleheen D Kubo M Kato N Ida Chen YD Dewey FE Kathiresan S 刘莉 叶鹏 2017中华高血压杂志2017,25,9:2
2Molecular genetics of quantitative fibrinogen disorders 显示文摘Asselta R Spena S Duga S 2007Cardiovasc Hematol Agents Med Chem2007,5,2:1
3The molecular basis of quantitative fibrinogen disorders显示文摘Asselta R Duga S Tenchini ML 2006J Thromb Haemost2006,4,10:1
4Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion 显示文摘DUGA S ASSELTA R SANTAGOSTINO E 2000Blood2000,95,4:1
5The molecular basis of quantitative fibrinogen disorders显示文摘Asselta R Duga S Tenchini ML 2006J Thromb Haemost2006,4,10:1
6Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families显示文摘Bonati MT Combi R Asselta R 2002J Neurol2002,249,8:1
7The molecular basis of quantitative fibrinogen disorders显示文摘ASSELTA R DUGA S TENCHINI M L 2006J Thromb Haemost2006,4,10:1
8The PDXK rs2010795 variant is not associated with parkinson disease in Italy显示文摘Ilaria Guella Rosanna Asselta Silvana Tesei 2010Ann Neurol2010,67,:1
9A type II mutation (Glu 117Stop) induction of allele-specific mRNA degradation and factor XI deficiency显示文摘Solda G Asselta R Ghiotto R 2005Haematologica2005,90,12:1
10Congenital afibrinnogenemia:mutation leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNA显示文摘Asselta R DugaS simonic T 2000Blood2000,96,7:1
11Analysis of Iranian patients allow the identification of the first truncating mutation in the fibrinogen B beta-chain gene causing afibrinogenemia显示文摘Asselta R SpenaS Dugas 2002Haematologica2002,87,8:1
12Inherited defects of coagulation factor V : the hemorrhagic side 显示文摘Asselta R Tenchini ML Duga S 2006J Thromb Haemost2006,4,1:1
13The association of factor V Leiden with myocardial infarction is replicated in 1880 patients with premature disease显示文摘Mannucci PM Asselta R Duga S 2010J Thromb Haemost2010,8,10:1
14Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibfinogen Aalpha-chain gene 显示文摘SPENA S DUGA S ASSELTA R 2004Eur J Hum Genet2004,12,11:1
15Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta- chain gene causing activation of cryptic splice sites 显示文摘SPENA S DUGA S ASSELTA R 2002Blood2002,100,13:1
16Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion显示文摘Duga S Asselta R Santagostino E 2000Blood2000,95,4:1
17Congenital afibrinogenemia : mutations leading to premature termination cedons in fibrinogen A al- pha-chain gene are not associated with the decay of the mutant mR- NAs 显示文摘ASSELTA R DUGA S SPENA S 2001Blood2001,98,13:1
18Molecular characteriza- tion of the flint missense mutation in the fibrinogen Aalpha-chain gene identified in a compound hetemzygous afibrinogenemic patient 显示文摘PLATE M ASSELTA R PEYVANDI F 2007Biochim Biophys Acra2007,1772,7:1
19The molecular basis of quantitative fibrinogen disorders显示文摘Asselta R Duga S Tenchini ML 2006J Thromb Haemost2006,4,4:1
20Congenital alibrinogenemia: intracellular retention of fibfinogen due to a novel W437 G mutation in the fibrinogen Bbeta- chain gene 显示文摘SPENA S ASSELTA R DUGA S 2003Biochim Biophys Acta2003,1639,2:1
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