Journal of Diagnostics Concepts & Practice ›› 2019, Vol. 18 ›› Issue (2): 127-132.doi: 10.16150/j.1671-2870.2019.02.002
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Received:
2019-04-08
Online:
2019-04-25
Published:
2019-04-25
CLC Number:
[1] | Patel K, Fasanya A, Yadam S, et al. Pathogenesis and Epidemiology of Venous Thromboembolic Disease[J]. Crit Care Nurs Q, 2017, 40(3):191-200. |
[2] | Heit JA. Thrombophilia: common questions on laboratory assessment and management[J]. Hematology Am Soc Hematol Educ Program, 2007:127-135. |
[3] | Law Y, Chan YC, Cheng SWK. Epidemiological updates of venous thromboembolism in a Chinese population[J]. Asian J Surg, 2018, 41(2):176-182. |
[4] | 杨媛华. 提高我国肺血栓栓塞症诊疗水平的系列研究——2008年度国家科学技术进步二等奖[J]. 首都医科大学学报, 2009, 30(1):5-7. |
[5] | Angchaisuksiri P. Venous thromboembolism in Asia--an unrecognised and under-treated problem?[J]. Thromb Haemost, 2011, 106(4):585-590. |
[6] | Ding Q, Wang M, Xu G, et al. Molecular basis and thrombotic manifestations of antithrombin deficiency in 15 unrelated Chinese patients[J]. Thromb Res, 2013, 132(3):367-373. |
[7] | Ding Q, Shen W, Ye X, et al. Clinical and genetic features of protein C deficiency in 23 unrelated Chinese patients[J]. Blood Cells Mol Dis, 2013, 50(1):53-58. |
[8] | Li L, Wu X, Wu W, et al. Clinical Manifestation and Mutation Spectrum of 53 Unrelated Pedigrees with Protein S Deficiency in China[J]. Thromb Haemost, 2019, 119(3):449-460. |
[9] | Lee EJ, Dykas DJ, Leavitt AD, et al. Whole-exome sequencing in evaluation of patients with venous thromboembolism[J]. Blood Adv, 2017, 1(16):1224-1237. |
[10] | Stearns-Kurosawa DJ, Kurosawa S, Mollica JS, et al. The endothelial cell protein C receptor augments protein C activation by the thrombin-thrombomodulin complex[J]. Proc Natl Acad Sci U S A, 1996, 93(19):10212-10216. |
[11] | Griffin JH, Evatt B, Zimmerman TS, et al. Deficiency of protein C in congenital thrombotic disease[J]. J Clin Invest, 1981, 68(5):1370-1373. |
[12] | Schwarz HP, Fischer M, Hopmeier P, et al. Plasma protein S deficiency in familial thrombotic disease[J]. Blood, 1984, 64(6):1297-1300. |
[13] | Tang L, Wang HF, Lu X, et al. Common genetic risk factors for venous thrombosis in the Chinese population[J]. Am J Hum Genet, 2013, 92(2):177-187. |
[14] | Saposnik B, Reny JL, Gaussem P, et al. A haplotype of the EPCR gene is associated with increased plasma leve-ls of sEPCR and is a candidate risk factor for thrombosis[J]. Blood, 2004, 103(4):1311-1318. |
[15] | Bertina RM, Koeleman BP, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C[J]. Nature, 1994, 369(6475):64-67. |
[16] | Buchanan GS, Rodgers GM, Ware Branch D. The inheri-ted thrombophilias: genetics, epidemiology, and laboratory evaluation[J]. Best Pract Res Clin Obstet Gynaecol, 2003, 17(3):397-411. |
[17] | Egeberg O. Inherited antithrombin deficiency causing thrombophilia[J]. Thromb Diath Haemorrh, 1965, 13:516-530. |
[18] | Bernardi F, Legnani C, Micheletti F, et al. A heparin cofactor II mutation (HCII Rimini) combined with factor V Leiden or type I protein C deficiency in two unrelated thrombophilic subjects[J]. Thromb Haemost, 1996, 76(4):505-509. |
[19] | Dziadosz M1, Baxi LV. Global prevalence of prothrombin gene mutation G20210A and implications in women's health: a systematic review[J]. Blood Coagul Fibrinolysis, 2016, 27(5):481-489. |
[20] | Takagi Y, Murata M, Kozuka T, et al. Missense mutations in the gene encoding prothrombin corresponding to Arg596 cause antithrombin resistance and thrombomo-dulin resistance[J]. Thromb Haemost, 2016, 116(6):1022-1031. |
[21] | Segers O, Simioni P, Tormene D, et al. Genetic modulation of the FV(Leiden)/normal FV ratio and risk of venous thrombosis in factor V Leiden heterozygotes[J]. J Thromb Haemost, 2012, 10(1):73-80. |
[22] | Mannucci PM, Franchini M. Classic thrombophilic gene variants[J]. Thromb Haemost, 2015, 114(5):885-889. |
[23] | Steen M, Norstrom EA, Tholander AL, et al. Functional characterization of factor V-Ile359Thr: a novel mutation associated with thrombosis[J]. Blood, 2004, 103(9):3381-3387. |
[24] | Castoldi E. FⅤ and APC resistance: the plot thickens[J]. Blood, 2014, 123(15):2288-2889. |
[25] | Simioni P1, Tormene D, Tognin G, et al. X-linked thrombophilia with a mutant factor IX (factor IX Padua)[J]. N Engl J Med, 2009, 361(17):1671-1675. |
[26] | Ichinose A, Espling ES, Takamatsu J, et al. Two types of abnormal genes for plasminogen in families with a predisposition for thrombosis[J]. Proc Natl Acad Sci U S A, 1991, 88(1):115-119. |
[27] | Shigekiyo T, Yoshida H, Matsumoto K, et al. HRG Tokushima: molecular and cellular characterization of histidine-rich glycoprotein(HRG) deficiency[J]. Blood, 1998, 91(1):128-133. |
[28] | Moatti D, Haidar B, Fumeron F, et al. A new T-287C polymorphism in the 5' regulatory region of the tissue factor pathway inhibitor gene. Association study of the T-287C and C-399T polymorphisms with coronary artery disease and plasma TFPI levels[J]. Thromb Haemost, 2000, 84(2):244-249. |
[29] | Connors JM. Thrombophilia Testing and Venous Thrombosis[J]. N Engl J Med, 2017, 377(23):2298. |
[30] | 中华医学会血液学分会血栓与止血学组. 易栓症诊断中国专家共识(2012年版)[J]. 中华血液学杂志, 2012, 33(11):982. |
[31] | 包承鑫. 遗传性易栓症的诊断[J]. 诊断学理论与实践, 2006, 5(5):452-454. |
[32] | 《中国血栓性疾病防治指南》专家委员会. 中国血栓性疾病防治指南[J]. 中华医学杂志, 2018, 98(36):2861-2888. |
[33] | 王鸿利, 王学锋. 遗传性易栓症的规范化诊断[C]. 华东地区血液学学术会议暨江苏省第十三次血液学学术会议, 2009. |
[34] | Huisman MV, Klok FA. Diagnostic management of acute deep vein thrombosis and pulmonary embolism[J]. J Thromb Haemost, 2013, 11(3):412-422. |
[35] | Miyakis S, Lockshin MD, Atsumi T, et al. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome(APS)[J]. J Thromb Haemost, 2006, 4(2):295-306. |
[36] | Keeling D, Mackie I, Moore GW, et al. Guidelines on the investigation and management of antiphospholipid syndrome[J]. Br J Haematol, 2012, 157(1):47-58. |
[37] | Ding Q, Yang L, Dinarvand P, et al. Protein C Thr315Ala variant results in gain of function but manifests as type II deficiency in diagnostic assays[J]. Blood, 2015, 125(15):2428-2434. |
[38] | Yin T, Takeshita S, Sato Y, et al. A large deletion of the PROS1 gene in a deep vein thrombosis patient with protein S deficiency[J]. Thromb Haemost, 2007, 98(4):783-789. |
[39] | Choung HS, Kim HJ, Gwak GY, et al. Inherited protein S deficiency as a result of a large duplication mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification[J]. J Thromb Haemost, 2008, 6(8):1430-1432. |
[40] | Zhang X, Xu Y, Liu D, et al. A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease[J]. BMC genomics, 2015, 16:364. |
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