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| 1 | 颈总动脉内径与心血管事件及死亡风险研究:4项队列研究的汇总分析显示文摘颈动脉内径增加是动脉重构的表现,且可能是心血管病的危险因素。研究者评估颈动脉内径与脑卒中、冠状动脉性心脏病、心血管病及全因死亡的关系,并探讨与血压有关的中膜增厚、动脉僵硬、动脉壁应力及动脉硬化等动脉重构过程能否解释此关系。 | Sedaghat S van Sloten TT Laurent S London GM Pannier Kavousi M Mattace-Raso F Franco OH Boutouyrie P Ikram MA Stehouwer CDA 赵狄 练桂丽 | 2018 | 中华高血压杂志2018，26，7： | 4 |
| 2 | Genotype phenotype correlation in Wilson's disease within families-a report on four south Indian families显示文摘AIM: To study the genotype phenotype correlation in Wilson's disease (WD) patients within families. METHODS: We report four unrelated families from South India with nine members affected with WD. Phenotype was classified as per international consensus phenotypic classifi cation of WD. DNA was extracted from peripheral blood and 21 exons of ATP7B gene and flanking introns were amplified by polymerase chain reaction (PCR). The PCR products were screened for mutations and the aberrant products noted on screening were sequenced. RESULTS: Four separate ATP7B mutations were found in the four families. ATP7B mutations were identical amongst affected members within each family. Three families had homozygous mutations of ATP7B gene while one family had compound heterozygous mutation, of which only one mutation was identifi ed. We noted concordance between ATP7B gene mutation and Wilson's disease phenotype amongst members within each family. The age of onset of symptoms or of detection of asymptomatic disease, baseline serum ceruloplasmin and baseline urinary copper levels were also similar in affected members of each family. Minor differences in phenotype and baseline serum ceruloplasmin level were noted in one family.CONCLUSION: We report concordance between ATP7B mutation and WD phenotype within each family with > 1 member affected with WD. Homozygous ATP7B mutation was present in 3 of the 4 families studied. Our report supports allelic dominance as a determinant of WD phenotype. However, in one family with compound heterozygous mutation, there was a similar WD phenotype which suggests that there may be other factors determining the phenotype. | S Santhosh RV Shaji CE Eapen V Jayanthi S Malathi P Finny N Thomas M Chandy G Kurian GM Chandy | 2008 | World Journal of Gastroenterology2008，14，29： | 3 |
| 3 | 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 |
| 4 | Delayed gastric emptying after gastric surgery显示文摘 | Bar-Natan M Larrson GM Stephens G | 1996 | Am J Surg1996，172，1： | 1 |
| 5 | Role of cyclooxygenase-2 in neuronal cell cycle activity and glutamate-mediated excitotoxicity 显示文摘 | Mirjany M Ho L Pasinetti GM | 2002 | J Pharmacol Exp Ther2002，301，： | 1 |
| 6 | The oxidation hypothesis of athemgenesis:the role of oxidized phospholipids and HDL显示文摘 | Ananthramaiah GM Reddy ST | 2004 | J Lipid Res2004，45，： | 1 |
| 7 | Adult stem cell therapy of female stress urinary incontinence显示文摘 | Mitterberger M Pinggera GM Marksteiner R | 2008 | Eur Urol2008，53，1： | 1 |
| 8 | High resolution melting analysis for the rapid and sensitive detection of mutations in clinical samples:KRAS codon 12 and 13 mutations in non-small cell lung cancer显示文摘 | Krypuy M Newnham GM Thomas DM | 2006 | BMC Cancer2006，6，： | 1 |
| 9 | SSRIs versusnon-SSRIs in posttraumatic stress disorder: an update with recommendations 显示文摘 | Asnis GM Kohn SR Henderson M | 2004 | Drugs2004，64，4： | 1 |
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| 11 | Immunohistochemical localization of transforming growth factor-beta in human implantation sites 显示文摘 | Selick CE Horowitz GM Gratch M | 1994 | J Clin Endocrinol Metab1994，78，3： | 1 |
| 12 | Th1 and Th2 eytokine dysregulation in human infectious,neoplastic,and inflammatory diseases显示文摘 | Lucy DR Clerici M Shearer GM | 1996 | Clin Microbiol Rev1996，9，4： | 1 |
| 13 | Maspin expression in invaslve breast caneer: association with other prognostic faclors 显示文摘 | Mohsin SK Zhang M Clark GM | 2003 | J Pathol2003，199，4： | 1 |
| 14 | Restrictions of the Mini-Mental State Examination in acute stroke显示文摘 | Nys GM van Zandvoort M J de Kort PL | 2005 | Arch Clin Ncu- ropsyehol2005，20，5： | 1 |
| 15 | Recently classified types of Coxsackie virus, group A; behavior in tissue culture 显示文摘 | Sickles GM Mutterer M Feorino P | 1955 | Proc Soc Exp Biol Med1955，90，2： | 1 |
| 16 | Genomics and biological ac- tivity of neutrophil gelatinase-associated lipoealin in several clini- cal settings显示文摘 | Virzi GM Clementi A de Cal M | 2013 | Blood Purif2013，35，13： | 1 |
| 17 | Human papillomavirus types in invasive cervical cancer world wide: ameta-analysis显示文摘 | Clifford GM Smith JS Plummer M | 2003 | Br J Canc- er2003，88，1： | 1 |
| 18 | The 3A protein from multiple picornaviruses utilizes the golgi adaptor protein ACBD3 to recruit PI4K III beta显示文摘 | Greninger AL Knudsen GM Betegon M | 2012 | J Virol2012，86，7： | 1 |
| 19 | Cancer stem cell characteristics in retinoblastoma显示文摘 | Seigel GM Campbell LM Narayan M | | 0，，： | 1 |
| 20 | Acute myocardial infarction in pregnancy 显示文摘 | Rosa GM Bauckneht M Ferrero S | 2013 | G Ital Cardiol (Rome)2013，14，2： | 1 |
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