Prothrombotic Risk Factors in Children with Spontaneous Venous Thrombosis and Their Asymptomatic Parents

Dahlbäck, 1993, Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C, Proc Natl Acad Sci USA, 90, 1004, 10.1073/pnas.90.3.1004 Bertina, 1994, Mutation in blood coagulation factor V associated with resistance to activated protein C, Nature, 369, 64, 10.1038/369064a0 Seligsohn, 1997, Thrombophilia as a multigenic disorder, Thromb Haemost, 78, 297, 10.1055/s-0038-1657542 Poort, 1996, A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis, Blood, 88, 3698, 10.1182/blood.V88.10.3698.bloodjournal88103698 Junker, 1999, Prothrombin G20210A gene mutation and further prothrombotic risk factors in childhood thrombophilia, Arterioscler Thromb Vasc Biol, 19, 2568, 10.1161/01.ATV.19.10.2568 Frosst, 1995, A candidate genetic risk factor for vascular disease, Nature Genetics, 10, 111, 10.1038/ng0595-111 Salomon, 1999, Single and combined prothrombotic factors in patients with idiopathic venous thromboembolism—Prevalence and risk assessment, Arteriol Thromb Vasc Biol, 19, 511, 10.1161/01.ATV.19.3.511 Alenc-Gelas, 1999, Venous thromboembolic disease and the prothrombin, methylene tetrahydrofolate reductase and factor V genes, Thromb Haemost, 81, 506, 10.1055/s-0037-1614514 Boven van, 1996, Factor V Leiden (FVR506Q) in families with inherited antithrombin deficiency, Thromb Haemost, 75, 417, 10.1055/s-0038-1650289 Koelemann, 1994, Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families, Blood, 84, 1031, 10.1182/blood.V84.4.1031.1031 Zöller, 1995, Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S, Blood, 85, 3518, 10.1182/blood.V85.12.3518.bloodjournal85123518 Cattaneo, 1997, A common mutation in the methylenetetrahydrofolate reductase gene (C677T) increases the risk for deep-vein thrombosis in patients with mutant factor V (Factor V:Q506), Arterioscler Thromb Vasc Biol, 17, 1662, 10.1161/01.ATV.17.9.1662 Ehrenforth, 1999, Study of the prothrombin gene 20210 GA variant in FV:Q506 carriers in relationship to the presence or absence of juvenile venous thromboembolism, Arterioscler Thromb Vasc Biol, 19, 276, 10.1161/01.ATV.19.2.276 Ehrenforth, 1999, Multicenter evaluation of combined prothrombotic defects associated with thrombophilia in childhood, Eur J Pediatr, 158, S97, 10.1007/PL00014359 Nowak-Göttl U, Debus O, Findeisen M, Kassenböhmer R, Koch HG, Pollmann H, Postler C, Weber P, Vielhaber H. Lipoprotein (a): its role in childhood thromboembolism. Pediatrics 1997;99(6). URL: http://www.pediatrics.org/cgi/content/full/99/6/e11. Nowak-Göttl, 1999, Increased lipoprotein (a) is an important risk factor for venous thrombosis in childhood, Circulation, 100, 743, 10.1161/01.CIR.100.7.743 Nowak-Göttl, 1999, Lipoprotein (a) and genetic polymorphisms of clotting factor V, prothrombin, and methylenetetrahydrofolate reductase are risk factors of spontaneous ischemic stroke in childhood, Blood, 94, 3678, 10.1182/blood.V94.11.3678 Nowak-Göttl, 1997, Arg to Gln mutation in the factor V gene causes poor fibrinolytic response in children after venous occlusion, Thromb Haemost, 78, 1115, 10.1055/s-0038-1657696 Junker, 1999, Heterozygous FV R506Q mutation in childhood thrombosis, Fibrinolysis & Proteolysis, 13, 26 Falk, 1995, Allele specific PCR for detection of a sequence polymorphism in the promoter region of the plasminogen activator inhibitor-1 (PAI-1) gene, Fibrinolysis, 9, 170, 10.1016/S0268-9499(95)80007-7 Dawson, 1993, The two allele sequences of a common polymorphism in the promoter of the plasminogen activator inhibitor (PAI-1) gene respond differently to interleukin-1 in HepG2 cells, J Chem Biol, 268, 10739, 10.1016/S0021-9258(18)82047-6 Boerwinkle, 1992, Apolipoprotein (a) gene accounts for greater than 90% of the variation in plasma lipoprotein (a) concentrations, J Clin Invest, 90, 52, 10.1172/JCI115855 Nowak-Göttl, 1997, Factor V Leiden, protein C, and lipoprotein (a) in catheter-related thrombosis in childhood, J Pediatr, 131, 608, 10.1016/S0022-3476(97)70071-4 Nowak-Göttl, 1999, Prospective evaluation of the thrombotic risk in children with acute lymphoblastic leukemia carrying the MTHFR TT677 genotype, the prothrombin G20210A variant, and further prothrombotic risk factors, Blood, 93, 1595, 10.1182/blood.V93.5.1595