Bernardi F, Faioni EM, Castoldi E, Lunghi B, Castaman G, Sacchi E, Mannucci PM. A factor V genetic component differing from factor V R506Q contributes to the activated protein C resistance phenotype. Blood 1997; 90: 1552-1557.
Castoldi E, Brugge JM, Nicolaes GAF, Girelli D, Tans G, Rosing J. 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: 4173-4179.
Brugge JM, Simioni P, Bernardi F, Tormene D, Lunghi B, Tans G, Pagnan A, Rosing J, Castoldi E. 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: 2695-2702.
Duckers C, Simioni P, Spiezia L, Radu C, Gavasso S, Rosing J, Castoldi E. Low plasma levels of tissue factor pathway inhibitor in patients with congenital factor V deficiency. Blood 2008; 112: 3615-3623.
Duckers C, Simioni P. Spiezia L, Radu C, Dabrilli P, Gavasso S, Rosing J, Castoldi E. Residual platelet factor V ensures thrombin generation in patients with severe congenital factor V deficiency and mild bleeding symptoms. Blood 2010; 115: 879-886.
Segers O, van Oerle R, ten Cate H, Rosing J, Castoldi E. Thrombin generation as an intermediate phenotype for venous thrombosis: a proof-of-concept study. Thromb Haemost 2010; 103: 114-122.
Castoldi E, Simioni P, Tormene D, Rosing J, Hackeng TM. Hereditary and acquired protein S deficiencies are associated with low TFPI levels in plasma. J Thromb Haemost 2010; 8: 294-300.
Castoldi E, Duckers C, Radu C, Spiezia L, Rossetto V, Tagariello G, Rosing J, Simioni P. Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet-rich plasma. J Thromb Haemost 2011; 9: 959-968.
Castoldi E, Collins PW, Williamson PL, Bevers EM. Compound heterozygosity for two novel TMEM16F mutations in a patient with Scott syndrome. Blood 2011; 117: 4399-4400.