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referencesuptodate· REFERENCES· item f27_35_28218

REFERENCES Mateo J, Oliver A, Borrell M, et al. Laboratory evaluation and clinical characteristics of 2,132 consecutive unselected patients with venous thromboembolism--results of the Spanish Multicentric Study on Thrombophilia (EMET-Study). Thromb Haemost 1997; 77:444. Margaglione M, Brancaccio V, Giuliani N, et al. Increased risk for venous thrombosis in carriers of the prothrombin G-->A20210 gene variant. Ann Intern Med 1998; 129:89. Castoldi E, Rosing J. APC resistance: biological basis and acquired influences. J Thromb Haemost 2010; 8:445. Kalafatis M, Bertina RM, Rand MD, Mann KG. Characterization of the molecular defect in factor VR506Q. J Biol Chem 1995; 270:4053. Bertina RM, Koeleman BP, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369:64. Nicolaes GA, Dahlbäck B. Factor V and thrombotic disease: description of a janus-faced protein. Arterioscler Thromb Vasc Biol 2002; 22:530. Thorelli E, Kaufman RJ, Dahlbäck B. Cleavage of factor V at Arg 506 by activated protein C and the expression of anticoagulant activity of factor V. Blood 1999; 93:2552. Castoldi E, Brugge JM, Nicolaes GA, et al. Impaired APC cofactor activity of factor V plays a major role in the APC resistance associated with the factor V Leiden (R506Q) and R2 (H1299R) mutations. Blood 2004; 103:4173. Cramer TJ, Gale AJ. The anticoagulant function of coagulation factor V. Thromb Haemost 2012; 107:15. Dahlback B. Anticoagulant factor V and thrombosis risk (editorial). Blood 2004; 103:3995. Simioni P, Castoldi E, Lunghi B, et al. An underestimated combination of opposites resulting in enhanced thrombotic tendency. Blood 2005; 106:2363. Zöller B, Svensson PJ, He X, Dahlbäck B. Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C. J Clin Invest 1994; 94:2521. de Visser MC, Rosendaal FR, Bertina RM. A reduced sensitivity for activated protein C in the absence of factor V Leiden increases the risk of venous thrombosis. Blood 1999; 93:1271. Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995; 346:1133. Lee DH, Henderson PA, Blajchman MA. Prevalence of factor V Leiden in a Canadian blood donor population. CMAJ 1996; 155:285. Awidi A, Shannak M, Bseiso A, et al. High prevalence of factor V Leiden in healthy Jordanian Arabs. Thromb Haemost 1999; 81:582.

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Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995; 346:1133. Lee DH, Henderson PA, Blajchman MA. Prevalence of factor V Leiden in a Canadian blood donor population. CMAJ 1996; 155:285. Awidi A, Shannak M, Bseiso A, et al. High prevalence of factor V Leiden in healthy Jordanian Arabs. Thromb Haemost 1999; 81:582. Irani-Hakime N, Tamim H, Kreidy R, Almawi WY. The prevalence of factor V R506Q mutation-Leiden among apparently healthy Lebanese. Am J Hematol 2000; 65:45. Taher A, Khalil I, Shamseddine A, et al. High prevalence of Factor V Leiden mutation among healthy individuals and patients with deep venous thrombosis in Lebanon: is the eastern Mediterranean region the area of origin of this mutation? Thromb Haemost 2001; 86:723. Ridker PM, Miletich JP, Hennekens CH, Buring JE. Ethnic distribution of factor V Leiden in 4047 men and women. Implications for venous thromboembolism screening. JAMA 1997; 277:1305. Zivelin A, Griffin JH, Xu X, et al. A single genetic origin for a common Caucasian risk factor for venous thrombosis. Blood 1997; 89:397. Zivelin A, Rosenberg N, Faier S, et al. A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene. Blood 1998; 92:1119. Williamson D, Brown K, Luddington R, et al. Factor V Cambridge: a new mutation (Arg306-->Thr) associated with resistance to activated protein C. Blood 1998; 91:1140. Chan WP, Lee CK, Kwong YL, et al. A novel mutation of Arg306 of factor V gene in Hong Kong Chinese. Blood 1998; 91:1135. Liang R, Lee CK, Wat MS, et al. Clinical significance of Arg306 mutations of factor V gene. Blood 1998; 92:2599. Steen M, Norstrøm EA, Tholander AL, et al. Functional characterization of factor V-Ile359Thr: a novel mutation associated with thrombosis. Blood 2004; 103:3381. Mingozzi F, Legnani C, Lunghi B, et al. A FV multiallelic marker detects genetic components of APC resistance contributing to venous thromboembolism in FV Leiden carriers. Thromb Haemost 2003; 89:983. Bernardi F, Faioni EM, Castoldi E, et al. A factor V genetic component differing from factor V R506Q contributes to the activated protein C resistance phenotype. Blood 1997; 90:1552. Alhenc-Gelas M, Nicaud V, Gandrille S, et al. The factor V gene A4070G mutation and the risk of venous thrombosis. Thromb Haemost 1999; 81:193.

referencesuptodate· REFERENCES· item f27_35_28218

Bernardi F, Faioni EM, Castoldi E, et al. A factor V genetic component differing from factor V R506Q contributes to the activated protein C resistance phenotype. Blood 1997; 90:1552. Alhenc-Gelas M, Nicaud V, Gandrille S, et al. The factor V gene A4070G mutation and the risk of venous thrombosis. Thromb Haemost 1999; 81:193. Margaglione M, Bossone A, Coalizzo D, et al. FV HR2 haplotype as additional inherited risk factor for deep vein thrombosis in individuals with a high-risk profile. Thromb Haemost 2002; 87:32. Luddington R, Jackson A, Pannerselvam S, et al. The factor V R2 allele: risk of venous thromboembolism, factor V levels and resistance to activated protein C. Thromb Haemost 2000; 83:204. Benson JM, Ellingsen D, El-Jamil M, et al. Factor V Leiden and factor V R2 allele: high-throughput analysis and association with venous thromboembolism. Thromb Haemost 2001; 86:1188. Faioni EM, Franchi F, Bucciarelli P, et al. Coinheritance of the HR2 haplotype in the factor V gene confers an increased risk of venous thromboembolism to carriers of factor V R506Q (factor V Leiden). Blood 1999; 94:3062. Folsom AR, Cushman M, Tsai MY, et al. A prospective study of venous thromboembolism in relation to factor V Leiden and related factors. Blood 2002; 99:2720. Tormene D, Fortuna S, Tognin G, et al. The incidence of venous thromboembolism in carriers of antithrombin, protein C or protein S deficiency associated with the HR2 haplotype of factor V: a family cohort study. J Thromb Haemost 2005; 3:1414. Reitsma PH, Bernardi F, Doig RG, et al. Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH. Thromb Haemost 1995; 73:876. Simioni P, Scudeller A, Radossi P, et al. "Pseudo homozygous" activated protein C resistance due to double heterozygous factor V defects (factor V Leiden mutation and type I quantitative factor V defect) associated with thrombosis: report of two cases belonging to two unrelated kindreds. Thromb Haemost 1996; 75:422. Zehnder JL, Jain M. Recurrent thrombosis due to compound heterozygosity for factor V Leiden and factor V deficiency. Blood Coagul Fibrinolysis 1996; 7:361.

referencesuptodate· REFERENCES· item f27_35_28218

Simioni P, Scudeller A, Radossi P, et al. "Pseudo homozygous" activated protein C resistance due to double heterozygous factor V defects (factor V Leiden mutation and type I quantitative factor V defect) associated with thrombosis: report of two cases belonging to two unrelated kindreds. Thromb Haemost 1996; 75:422. Zehnder JL, Jain M. Recurrent thrombosis due to compound heterozygosity for factor V Leiden and factor V deficiency. Blood Coagul Fibrinolysis 1996; 7:361. Guasch JF, Lensen RP, Bertina RM. Molecular characterization of a type I quantitative factor V deficiency in a thrombosis patient that is "pseudo homozygous" for activated protein C resistance. Thromb Haemost 1997; 77:252. Brugge JM, Simioni P, Bernardi F, et al. Expression of the normal factor V allele modulates the APC resistance phenotype in heterozygous carriers of the factor V Leiden mutation. J Thromb Haemost 2005; 3:2695. Duckers C, Simioni P, Tormene D, et al. Factor V Leiden pseudo-homozygotes have a more pronounced hypercoagulable state than factor V Leiden homozygotes. J Thromb Haemost 2011; 9:864. Robert A, Aillaud MF, Eschwège V, et al. ABO blood group and risk of venous thrombosis in heterozygous carriers of factor V Leiden. Thromb Haemost 2000; 83:630. Morelli VM, De Visser MC, Vos HL, et al. ABO blood group genotypes and the risk of venous thrombosis: effect of factor V Leiden. J Thromb Haemost 2005; 3:183. Procare-GEHT Group. ABO blood group but not haemostasis genetic polymorphisms significantly influence thrombotic risk: a study of 180 homozygotes for the Factor V Leiden mutation. Br J Haematol 2006; 135:697. Lensen R, Bertina RM, Vandenbroucke JP, Rosendaal FR. High factor VIII levels contribute to the thrombotic risk in families with factor V Leiden. Br J Haematol 2001; 114:380. Morange PE, Tregouet DA, Frere C, et al. Biological and genetic factors influencing plasma factor VIII levels in a healthy family population: results from the Stanislas cohort. Br J Haematol 2005; 128:91. 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 Thromb Haemost 2012; 10:73. Fisher M, Fernandez JA, Ameriso SF, et al. Activated protein C resistance in ischemic stroke not due to factor V arginine506-->glutamine mutation. Stroke 1996; 27:1163.

referencesuptodate· REFERENCES· item f27_35_28218

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 Thromb Haemost 2012; 10:73. Fisher M, Fernandez JA, Ameriso SF, et al. Activated protein C resistance in ischemic stroke not due to factor V arginine506-->glutamine mutation. Stroke 1996; 27:1163. van der Bom JG, Bots ML, Haverkate F, et al. Reduced response to activated protein C is associated with increased risk for cerebrovascular disease. Ann Intern Med 1996; 125:265. Rodeghiero F, Tosetto A. Activated protein C resistance and factor V Leiden mutation are independent risk factors for venous thromboembolism. Ann Intern Med 1999; 130:643. Haim N, Lanir N, Hoffman R, et al. Acquired activated protein C resistance is common in cancer patients and is associated with venous thromboembolism. Am J Med 2001; 110:91. Nijziel MR, van Oerle R, Christella M, et al. Acquired resistance to activated protein C in breast cancer patients. Br J Haematol 2003; 120:117. Zangari M, Saghafifar F, Anaissie E, et al. Activated protein C resistance in the absence of factor V Leiden mutation is a common finding in multiple myeloma and is associated with an increased risk of thrombotic complications. Blood Coagul Fibrinolysis 2002; 13:187. Elice F, Fink L, Tricot G, et al. Acquired resistance to activated protein C (aAPCR) in multiple myeloma is a transitory abnormality associated with an increased risk of venous thromboembolism. Br J Haematol 2006; 134:399. Clark P, Walker ID. The phenomenon known as acquired activated protein C resistance. Br J Haematol 2001; 115:767. Tosetto A, Simioni M, Madeo D, Rodeghiero F. Intraindividual consistency of the activated protein C resistance phenotype. Br J Haematol 2004; 126:405. Curvers J, Thomassen MC, Rimmer J, et al. Effects of hereditary and acquired risk factors of venous thrombosis on a thrombin generation-based APC resistance test. Thromb Haemost 2002; 88:5. Post MS, Rosing J, Van Der Mooren MJ, et al. Increased resistance to activated protein C after short-term oral hormone replacement therapy in healthy post-menopausal women. Br J Haematol 2002; 119:1017. Legnani C, Cini M, Cosmi B, et al. Oral contraceptive use in women with poor anticoagulant response to activated protein C but not carrying the factor V Leiden mutation increases the risk of venous thrombosis. Thromb Haemost 2004; 91:712.

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Post MS, Rosing J, Van Der Mooren MJ, et al. Increased resistance to activated protein C after short-term oral hormone replacement therapy in healthy post-menopausal women. Br J Haematol 2002; 119:1017. Legnani C, Cini M, Cosmi B, et al. Oral contraceptive use in women with poor anticoagulant response to activated protein C but not carrying the factor V Leiden mutation increases the risk of venous thrombosis. Thromb Haemost 2004; 91:712. Stolz E, Kemkes-Matthes B, Pötzsch B, et al. Screening for thrombophilic risk factors among 25 German patients with cerebral venous thrombosis. Acta Neurol Scand 2000; 102:31. A��ao��lu N, Mustafa NA, Türkyilmaz S. Prothrombotic disorders in patients with mesenteric vein thrombosis. J Invest Surg 2003; 16:299. El-Karaksy H, El-Koofy N, El-Hawary M, et al. Prevalence of factor V Leiden mutation and other hereditary thrombophilic factors in Egyptian children with portal vein thrombosis: results of a single-center case-control study. Ann Hematol 2004; 83:712. Heijmans BT, Westendorp RG, Knook DL, et al. The risk of mortality and the factor V Leiden mutation in a population-based cohort. Thromb Haemost 1998; 80:607. Ridker PM, Miletich JP, Buring JE, et al. Factor V Leiden mutation as a risk factor for recurrent pregnancy loss. Ann Intern Med 1998; 128:1000. Preston FE, Rosendaal FR, Walker ID, et al. Increased fetal loss in women with heritable thrombophilia. Lancet 1996; 348:913. Tormene D, Simioni P, Prandoni P, et al. The risk of fetal loss in family members of probands with factor V Leiden mutation. Thromb Haemost 1999; 82:1237. Martinelli I, Taioli E, Cetin I, et al. Mutations in coagulation factors in women with unexplained late fetal loss. N Engl J Med 2000; 343:1015. Middeldorp S, Meinardi JR, Koopman MM, et al. A prospective study of asymptomatic carriers of the factor V Leiden mutation to determine the incidence of venous thromboembolism. Ann Intern Med 2001; 135:322. Svensson PJ, Dahlbäck B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994; 330:517. Price DT, Ridker PM. Factor V Leiden mutation and the risks for thromboembolic disease: a clinical perspective. Ann Intern Med 1997; 127:895. Koster T, Rosendaal FR, de Ronde H, et al. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet 1993; 342:1503.

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Svensson PJ, Dahlbäck B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994; 330:517. Price DT, Ridker PM. Factor V Leiden mutation and the risks for thromboembolic disease: a clinical perspective. Ann Intern Med 1997; 127:895. Koster T, Rosendaal FR, de Ronde H, et al. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet 1993; 342:1503. Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995; 85:1504. Simioni P, Prandoni P, Lensing AW, et al. The risk of recurrent venous thromboembolism in patients with an Arg506-->Gln mutation in the gene for factor V (factor V Leiden). N Engl J Med 1997; 336:399. Ridker PM, Hennekens CH, Lindpaintner K, et al. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. N Engl J Med 1995; 332:912. Lensen RP, Rosendaal FR, Koster T, et al. Apparent different thrombotic tendency in patients with factor V Leiden and protein C deficiency due to selection of patients. Blood 1996; 88:4205. Martinelli I, Mannucci PM, De Stefano V, et al. Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia: a study of 150 families. Blood 1998; 92:2353. Koeleman BP, Reitsma PH, Allaart CF, Bertina RM. Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. Blood 1994; 84:1031. Gandrille S, Greengard JS, Alhenc-Gelas M, et al. Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C-deficient patients. The French Network on the behalf of INSERM. Blood 1995; 86:219. Koeleman BP, van Rumpt D, Hamulyák K, et al. Factor V Leiden: an additional risk factor for thrombosis in protein S deficient families? Thromb Haemost 1995; 74:580. Zöller B, Berntsdotter A, García de Frutos P, Dahlbäck B. Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood 1995; 85:3518. van Boven HH, Reitsma PH, Rosendaal FR, et al. Factor V Leiden (FV R506Q) in families with inherited antithrombin deficiency. Thromb Haemost 1996; 75:417.

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Zöller B, Berntsdotter A, García de Frutos P, Dahlbäck B. Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood 1995; 85:3518. van Boven HH, Reitsma PH, Rosendaal FR, et al. Factor V Leiden (FV R506Q) in families with inherited antithrombin deficiency. Thromb Haemost 1996; 75:417. Ehrenforth S, Ludwig G, Klinke S, et al. The prothrombin 20210 A allele is frequently coinherited in young carriers of the factor V Arg 506 to Gln mutation with venous thrombophilia. Blood 1998; 91:2209. Tosetto A, Rodeghiero F, Martinelli I, et al. Additional genetic risk factors for venous thromboembolism in carriers of the factor V Leiden mutation. Br J Haematol 1998; 103:871. Koeleman BP, Reitsma PH, Bertina RM. Familial thrombophilia: a complex genetic disorder. Semin Hematol 1997; 34:256. Emmerich J, Rosendaal FR, Cattaneo M, et al. Combined effect of factor V Leiden and prothrombin 20210A on the risk of venous thromboembolism--pooled analysis of 8 case-control studies including 2310 cases and 3204 controls. Study Group for Pooled-Analysis in Venous Thromboembolism. Thromb Haemost 2001; 86:809. Ridker PM, Hennekens CH, Selhub J, et al. Interrelation of hyperhomocyst(e)inemia, factor V Leiden, and risk of future venous thromboembolism. Circulation 1997; 95:1777. Ridker PM, Miletich JP, Stampfer MJ, et al. Factor V Leiden and risks of recurrent idiopathic venous thromboembolism. Circulation 1995; 92:2800. Eichinger S, Pabinger I, Stümpflen A, et al. The risk of recurrent venous thromboembolism in patients with and without factor V Leiden. Thromb Haemost 1997; 77:624. Keijzer MB, den Heijer M, Blom HJ, et al. Interaction between hyperhomocysteinemia, mutated methylenetetrahydrofolatereductase (MTHFR) and inherited thrombophilic factors in recurrent venous thrombosis. Thromb Haemost 2002; 88:723. Ho WK, Hankey GJ, Quinlan DJ, Eikelboom JW. Risk of recurrent venous thromboembolism in patients with common thrombophilia: a systematic review. Arch Intern Med 2006; 166:729. Simioni P, Prandoni P, Lensing AW, et al. Risk for subsequent venous thromboembolic complications in carriers of the prothrombin or the factor V gene mutation with a first episode of deep-vein thrombosis. Blood 2000; 96:3329.

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Ho WK, Hankey GJ, Quinlan DJ, Eikelboom JW. Risk of recurrent venous thromboembolism in patients with common thrombophilia: a systematic review. Arch Intern Med 2006; 166:729. Simioni P, Prandoni P, Lensing AW, et al. Risk for subsequent venous thromboembolic complications in carriers of the prothrombin or the factor V gene mutation with a first episode of deep-vein thrombosis. Blood 2000; 96:3329. De Stefano V, Martinelli I, Mannucci PM, et al. The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. N Engl J Med 1999; 341:801. Lindmarker P, Schulman S, Sten-Linder M, et al. The risk of recurrent venous thromboembolism in carriers and non-carriers of the G1691A allele in the coagulation factor V gene and the G20210A allele in the prothrombin gene. DURAC Trial Study Group. Duration of Anticoagulation. Thromb Haemost 1999; 81:684. Kearon C, Gent M, Hirsh J, et al. A comparison of three months of anticoagulation with extended anticoagulation for a first episode of idiopathic venous thromboembolism. N Engl J Med 1999; 340:901. Margaglione M, D'Andrea G, Colaizzo D, et al. Coexistence of factor V Leiden and Factor II A20210 mutations and recurrent venous thromboembolism. Thromb Haemost 1999; 82:1583. Eichinger S, Weltermann A, Mannhalter C, et al. The risk of recurrent venous thromboembolism in heterozygous carriers of factor V Leiden and a first spontaneous venous thromboembolism. Arch Intern Med 2002; 162:2357. Vink R, Kraaijenhagen RA, Levi M, Büller HR. Individualized duration of oral anticoagulant therapy for deep vein thrombosis based on a decision model. J Thromb Haemost 2003; 1:2523. Marchetti M, Pistorio A, Barosi G. Extended anticoagulation for prevention of recurrent venous thromboembolism in carriers of factor V Leiden--cost-effectiveness analysis. Thromb Haemost 2000; 84:752. Meinardi JR, Middeldorp S, de Kam PJ, et al. The incidence of recurrent venous thromboembolism in carriers of factor V Leiden is related to concomitant thrombophilic disorders. Br J Haematol 2002; 116:625. Lijfering WM, Middeldorp S, Veeger NJ, et al. Risk of recurrent venous thrombosis in homozygous carriers and double heterozygous carriers of factor V Leiden and prothrombin G20210A. Circulation 2010; 121:1706.

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Meinardi JR, Middeldorp S, de Kam PJ, et al. The incidence of recurrent venous thromboembolism in carriers of factor V Leiden is related to concomitant thrombophilic disorders. Br J Haematol 2002; 116:625. Lijfering WM, Middeldorp S, Veeger NJ, et al. Risk of recurrent venous thrombosis in homozygous carriers and double heterozygous carriers of factor V Leiden and prothrombin G20210A. Circulation 2010; 121:1706. Santamaria MG, Agnelli G, Taliani MR, et al. Thrombophilic abnormalities and recurrence of venous thromboembolism in patients treated with standardized anticoagulant treatment. Thromb Res 2005; 116:301. Prandoni P, Tormene D, Spiezia L, et al. Duration of anticoagulation and risk of recurrent thromboembolism in carriers of factor V Leiden or prothrombin mutation. J Thromb Haemost 2008; 6:2223. Schulman S, Lindmarker P. Thrombophilic polymorphism--a short-term or long-term risk for recurrence? J Thromb Haemost 2008; 6:2225. Lijfering WM, Christiansen SC, Rosendaal FR, Cannegieter SC. Contribution of high factor VIII, IX and XI to the risk of recurrent venous thrombosis in factor V Leiden carriers. J Thromb Haemost 2009; 7:1944. Vandenbroucke JP, Koster T, Briët E, et al. Increased risk of venous thrombosis in oral-contraceptive users who are carriers of factor V Leiden mutation. Lancet 1994; 344:1453. Helmerhorst FM, Bloemenkamp KW, Rosendaal FR, Vandenbroucke JP. Oral contraceptives and thrombotic disease: risk of venous thromboembolism. Thromb Haemost 1997; 78:327. Hellgren M, Svensson PJ, Dahlbäck B. Resistance to activated protein C as a basis for venous thromboembolism associated with pregnancy and oral contraceptives. Am J Obstet Gynecol 1995; 173:210. Hirsch DR, Mikkola KM, Marks PW, et al. Pulmonary embolism and deep venous thrombosis during pregnancy or oral contraceptive use: prevalence of factor V Leiden. Am Heart J 1996; 131:1145. Rosendaal FR, Vessey M, Rumley A, et al. Hormonal replacement therapy, prothrombotic mutations and the risk of venous thrombosis. Br J Haematol 2002; 116:851. Herrington DM, Vittinghoff E, Howard TD, et al. Factor V Leiden, hormone replacement therapy, and risk of venous thromboembolic events in women with coronary disease. Arterioscler Thromb Vasc Biol 2002; 22:1012. Bokarewa MI, Bremme K, Blombäck M. Arg506-Gln mutation in factor V and risk of thrombosis during pregnancy. Br J Haematol 1996; 92:473.

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Herrington DM, Vittinghoff E, Howard TD, et al. Factor V Leiden, hormone replacement therapy, and risk of venous thromboembolic events in women with coronary disease. Arterioscler Thromb Vasc Biol 2002; 22:1012. Bokarewa MI, Bremme K, Blombäck M. Arg506-Gln mutation in factor V and risk of thrombosis during pregnancy. Br J Haematol 1996; 92:473. McColl MD, Ramsay JE, Tait RC, et al. Risk factors for pregnancy associated venous thromboembolism. Thromb Haemost 1997; 78:1183. Dizon-Townson DS, Nelson LM, Jang H, et al. The incidence of the factor V Leiden mutation in an obstetric population and its relationship to deep vein thrombosis. Am J Obstet Gynecol 1997; 176:883. Lensen RP, Bertina RM, de Ronde H, et al. Venous thrombotic risk in family members of unselected individuals with factor V Leiden. Thromb Haemost 2000; 83:817. Rosing J, Tans G, Nicolaes GA, et al. Oral contraceptives and venous thrombosis: different sensitivities to activated protein C in women using second- and third-generation oral contraceptives. Br J Haematol 1997; 97:233. Juul K, Tybjaerg-Hansen A, Schnohr P, Nordestgaard BG. Factor V Leiden and the risk for venous thromboembolism in the adult Danish population. Ann Intern Med 2004; 140:330. de Moerloose P, Reber G, Perrier A, et al. Prevalence of factor V Leiden and prothrombin G20210A mutations in unselected patients with venous thromboembolism. Br J Haematol 2000; 110:125. Bounameaux H. Factor V Leiden paradox: risk of deep-vein thrombosis but not of pulmonary embolism. Lancet 2000; 356:182. Meyer G, Emmerich J, Helley D, et al. Factors V leiden and II 20210A in patients with symptomatic pulmonary embolism and deep vein thrombosis. Am J Med 2001; 110:12. Mäkelburg AB, Veeger NJ, Middeldorp S, et al. Different risk of deep vein thrombosis and pulmonary embolism in carriers with factor V Leiden compared with non-carriers, but not in other thrombophilic defects. Results from a large retrospective family cohort study. Haematologica 2010; 95:1030. Björgell O, Nilsson PE, Nilsson JA, Svensson PJ. Location and extent of deep vein thrombosis in patients with and without FV:R 506Q mutation. Thromb Haemost 2000; 83:648. van Langevelde K, Flinterman LE, van Hylckama Vlieg A, et al. Broadening the factor V Leiden paradox: pulmonary embolism and deep-vein thrombosis as 2 sides of the spectrum. Blood 2012; 120:933.

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