Free Access
Med Sci (Paris)
Volume 22, Number 11, Novembre 2006
Page(s) 985 - 989
Section M/S revues
Published online 15 November 2006
  1. De Lange M, Snieder H, Ariens RA, et al. The genetics of haemostasis: a twin study. Lancet 2001; 357 : 101–5. [Google Scholar]
  2. Ariens RA, de Lange M, Snieder H, et al. Activation markers of coagulation and fibrinolysis in twins : heritability of the prethrombotic state. Lancet 2002; 359 : 667–71. [Google Scholar]
  3. Souto JC, Almasy L, Borrell M, et al. Genetic determinants of hemostasis phenotypes in Spanish families. Circulation 2000; 101 : 1546–51. [Google Scholar]
  4. Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorr 1965; 13 : 516–30. [Google Scholar]
  5. Lane DA, Bayston T, Olds RJ, et al. Antithrombin mutation database : 2nd (1997) update. For the plasma coagulation inhibitors subcommittee of the scientific and standardization committee of the International society on thrombosis and haemostasis. Thromb Haemost 1997; 77 : 197–211. [Google Scholar]
  6. Kuhle S, Lane DA, Jochmanns K, et al. Homozygous antithrombin deficiency type II (99 Leu to Phe mutation) and childhood thromboembolism. Thromb Haemost 2001; 86 : 1007–11. [Google Scholar]
  7. Picard V, Dautzenberg MD, Villoutreix BO, et al. Antithrombin Phe229Leu : a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis. Blood 2003; 102 : 919–25. [Google Scholar]
  8. Griffin JH, Evatt B, Zimmerman TS, et al. Deficiency of protein C in congenital thrombotic disease. J Clin Invest 1981; 68 : 1370–3. [Google Scholar]
  9. 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 : 876–89. [Google Scholar]
  10. Gandrille S, Aiach M. Identification of mutations in 90 of 121 consecutive symptomatic French patients with a type I protein C deficiency. The French Inserm network on molecular abnormalities responsible for protein C and protein S deficiencies. Blood 1995; 86 : 2598–605. [Google Scholar]
  11. Comp PC, Nixon RR, Cooper MR, Esmon CT. Familial protein S deficiency is associated with recurrent thrombosis. J Clin Invest 1984; 74 : 2082–8. [Google Scholar]
  12. Gandrille S, Borgel D, Ireland H, et al. Protein S deficiency : a database of mutations. For the plasma coagulation inhibitors subcommittee of the scientific and standardization committee of the International society on thrombosis and haemostasis. Thromb Haemost 1997; 77 : 1201–14. [Google Scholar]
  13. Seligsohn U, Lubetsky A. Genetic susceptibility to venous thrombosis. N Engl J Med 2001; 344 : 1222–31. [Google Scholar]
  14. Dahlback B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C : prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90 : 1004–8. [Google Scholar]
  15. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. 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 1996; 88 : 3698–703. [Google Scholar]
  16. 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 : 1552–7. [Google Scholar]
  17. 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 : 809–16. [Google Scholar]
  18. 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 : 912–7. [Google Scholar]
  19. 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 : 2353–8. [Google Scholar]
  20. 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 : 1504–8. [Google Scholar]
  21. Bounameaux H. Factor V Leiden paradox : risk of deep-vein thrombosis but not of pulmonary embolism. Lancet 2000; 356 : 182–3. [Google Scholar]
  22. 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 : 1031–5. [Google Scholar]
  23. 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 : 219–24. [Google Scholar]
  24. Van Boven HH, Vandenbroucke JP, Briet E, Rosendaal FR. Gene-gene and gene-environment interactions determine risk of thrombosis in families with inherited antithrombin deficiency. Blood 1999; 94 : 2590–4. [Google Scholar]
  25. Borgel D, Duchemin J, Alhenc-Gelas M, et al. Molecular basis for protein S hereditary deficiency : genetic defects observed in 118 patients with type I and type IIa deficiencies. The French network on molecular abnormalities responsible for protein C and protein S deficiencies. J Lab Clin Med 1996; 128 : 218–27. [Google Scholar]
  26. Alhenc-Gelas M, Reny JL, Aubry ML, et al. The FXIII Val 34 Leu mutation and the risk of venous thrombosis. Thromb Haemost 2000; 84 : 1117–8. [Google Scholar]
  27. Saposnik B, Reny JL, Gaussem P, et al. A haplotype of the EPCR gene is associated with increased plasma levels of sEPCR and is a candidate risk factor for thrombosis. Blood 2004; 103 : 1311–8. [Google Scholar]
  28. Bloemenkamp KW, Rosendaal FR, Helmerhorst FM, Vandenbroucke JP. Higher risk of venous thrombosis during early use of oral contraceptives in women with inherited clotting defects. Arch Intern Med 2000; 160 : 49–52. [Google Scholar]
  29. Schreijer AJM, Cannegieter SC, Meijers JCM, et al. Activation of coagulation system during air travel : a crossover study. Lancet 2006; 367 : 832–8. [Google Scholar]

Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.

Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.

Initial download of the metrics may take a while.