-
1
-
-
84859205170
-
-
Note
-
Council recommendation of 8 June 2009 on an action in the field of rare diseases. Official Journal of the European Union. C 151/7-10.
-
-
-
-
2
-
-
79251481260
-
-
European registry of rare bleeding disorders. Hematology Education: the education program for the annual congress of the European Hematology Association
-
Peyvandi F, Palla R, Menegatti M. European registry of rare bleeding disorders. Hematology Education: the education program for the annual congress of the European Hematology Association. 2010; 4: 63-8.
-
(2010)
, vol.4
, pp. 63-68
-
-
Peyvandi, F.1
Palla, R.2
Menegatti, M.3
-
4
-
-
67749118126
-
Introduction. Rare bleeding disorders: general aspects of clinical features, diagnosis, and management
-
Peyvandi F, Palla R, Menegatti M, Mannucci PM. Introduction. Rare bleeding disorders: general aspects of clinical features, diagnosis, and management. Semin Thromb Hemost 2009; 35: 349-55.
-
(2009)
Semin Thromb Hemost
, vol.35
, pp. 349-355
-
-
Peyvandi, F.1
Palla, R.2
Menegatti, M.3
Mannucci, P.M.4
-
5
-
-
33646150228
-
Rare bleeding disorders
-
Peyvandi F, Kaufman RJ, Seligsohn U, Salomon O, Bolton-Maggs PH, Spreafico M, Menegatti M, Palla R, Siboni S, Mannucci PM. Rare bleeding disorders. Haemophilia 2006; 12(Suppl. 3): 137-42.
-
(2006)
Haemophilia
, vol.12
, Issue.SUPPL. 3
, pp. 137-142
-
-
Peyvandi, F.1
Kaufman, R.J.2
Seligsohn, U.3
Salomon, O.4
Bolton-Maggs, P.H.5
Spreafico, M.6
Menegatti, M.7
Palla, R.8
Siboni, S.9
Mannucci, P.M.10
-
6
-
-
4444269047
-
Recessively inherited coagulation disorders
-
Mannucci PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders. Blood 2004; 104: 1243-52.
-
(2004)
Blood
, vol.104
, pp. 1243-1252
-
-
Mannucci, P.M.1
Duga, S.2
Peyvandi, F.3
-
7
-
-
56649091112
-
National and international registries of rare bleeding disorders
-
Peyvandi F, Spreafico M. National and international registries of rare bleeding disorders. Blood Transfus 2008; 6(Suppl. 2): s45-8.
-
(2008)
Blood Transfus
, vol.6
, Issue.SUPPL. 2
-
-
Peyvandi, F.1
Spreafico, M.2
-
8
-
-
77949453184
-
The universal data collection surveillance system for rare bleeding disorders
-
Soucie JM, McAlister S, McClellan A, Oakley M, Su Y. The universal data collection surveillance system for rare bleeding disorders. Am J Prev Med 2010; 38: S475-81.
-
(2010)
Am J Prev Med
, vol.38
-
-
Soucie, J.M.1
McAlister, S.2
McClellan, A.3
Oakley, M.4
Su, Y.5
-
9
-
-
4844229372
-
The rare coagulation disorders - review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation
-
Bolton-Maggs PH, Perry DJ, Chalmers EA, Parapia LA, Wilde JT, Williams MD, Collins PW, Kitchen S, Dolan G, Mumford AD. The rare coagulation disorders - review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation. Haemophilia 2004; 10: 593-628.
-
(2004)
Haemophilia
, vol.10
, pp. 593-628
-
-
Bolton-Maggs, P.H.1
Perry, D.J.2
Chalmers, E.A.3
Parapia, L.A.4
Wilde, J.T.5
Williams, M.D.6
Collins, P.W.7
Kitchen, S.8
Dolan, G.9
Mumford, A.D.10
-
10
-
-
20144382370
-
Clinical phenotypes and factor VII genotype in congenital factor VII deficiency
-
Mariani G, Herrmann FH, Dolce A, Batorova A, Etro D, Peyvandi F, Wulff K, Schved JF, Auerswald G, Ingerslev J, Bernardi F. Clinical phenotypes and factor VII genotype in congenital factor VII deficiency. Thromb Haemost 2005; 93: 481-7.
-
(2005)
Thromb Haemost
, vol.93
, pp. 481-487
-
-
Mariani, G.1
Herrmann, F.H.2
Dolce, A.3
Batorova, A.4
Etro, D.5
Peyvandi, F.6
Wulff, K.7
Schved, J.F.8
Auerswald, G.9
Ingerslev, J.10
Bernardi, F.11
-
11
-
-
4444364103
-
Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias
-
Acharya SS, Coughlin A, Dimichele DM. Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost 2004; 2: 248-56.
-
(2004)
J Thromb Haemost
, vol.2
, pp. 248-256
-
-
Acharya, S.S.1
Coughlin, A.2
Dimichele, D.M.3
-
12
-
-
33747168208
-
Factor X deficiency: clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor 10 gene
-
Herrmann FH, Auerswald G, Ruiz-Saez A, Navarrete M, Pollmann H, Lopaciuk S, Batorova A, Wulff K. Factor X deficiency: clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor 10 gene. Haemophilia 2006; 12: 479-89.
-
(2006)
Haemophilia
, vol.12
, pp. 479-489
-
-
Herrmann, F.H.1
Auerswald, G.2
Ruiz-Saez, A.3
Navarrete, M.4
Pollmann, H.5
Lopaciuk, S.6
Batorova, A.7
Wulff, K.8
-
13
-
-
34250758556
-
International registry on factor XIII deficiency: a basis formed mostly on European data
-
Ivaskevicius V, Seitz R, Kohler HP, Schroeder V, Muszbek L, Ariens RA, Seifried E, Oldenburg J. International registry on factor XIII deficiency: a basis formed mostly on European data. Thromb Haemost 2007; 97: 914-21.
-
(2007)
Thromb Haemost
, vol.97
, pp. 914-921
-
-
Ivaskevicius, V.1
Seitz, R.2
Kohler, H.P.3
Schroeder, V.4
Muszbek, L.5
Ariens, R.A.6
Seifried, E.7
Oldenburg, J.8
-
17
-
-
0037220079
-
Factor V: a combination of Dr Jekyll and Mr Hyde
-
Mann KG, Kalafatis M. Factor V: a combination of Dr Jekyll and Mr Hyde. Blood 2003; 101: 20-30.
-
(2003)
Blood
, vol.101
, pp. 20-30
-
-
Mann, K.G.1
Kalafatis, M.2
-
18
-
-
77949321986
-
Residual platelet factor V ensures thrombin generation in patients with severe congenital factor V deficiency and mild bleeding symptoms
-
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: 879-86.
-
(2010)
Blood
, vol.115
, pp. 879-886
-
-
Duckers, C.1
Simioni, P.2
Spiezia, L.3
Radu, C.4
Dabrilli, P.5
Gavasso, S.6
Rosing, J.7
Castoldi, E.8
-
19
-
-
0018126464
-
Patients with congenital factor V deficiency have decreased factor Xa binding sites on their platelets
-
Miletich JP, Majerus DW, Majerus PW. Patients with congenital factor V deficiency have decreased factor Xa binding sites on their platelets. J Clin Invest 1978; 62: 824-31.
-
(1978)
J Clin Invest
, vol.62
, pp. 824-831
-
-
Miletich, J.P.1
Majerus, D.W.2
Majerus, P.W.3
-
20
-
-
55749097952
-
Low plasma levels of tissue factor pathway inhibitor in patients with congenital factor V deficiency
-
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: 3615-23.
-
(2008)
Blood
, vol.112
, pp. 3615-3623
-
-
Duckers, C.1
Simioni, P.2
Spiezia, L.3
Radu, C.4
Gavasso, S.5
Rosing, J.6
Castoldi, E.7
-
21
-
-
3042532313
-
Analysis of biological phenotypes from 42 patients with inherited factor VII deficiency: can biological tests predict the bleeding risk?
-
Giansily-Blaizot M, Verdier R, Biron-Adreani C, Schved JF, Bertrand MA, Borg JY, Le Cam-Duchez V, Briquel ME, Chambost H, Pouymayou K, Dutrillaux F, Favier R, Martin-Toutain I, Verdy E, Gay V, Goudemand J, Navarro R, Durin A, d'Oiron R, Lambert T, et al. Analysis of biological phenotypes from 42 patients with inherited factor VII deficiency: can biological tests predict the bleeding risk? Haematologica 2004; 89: 704-9.
-
(2004)
Haematologica
, vol.89
, pp. 704-709
-
-
Giansily-Blaizot, M.1
Verdier, R.2
Biron-Adreani, C.3
Schved, J.F.4
Bertrand, M.A.5
Borg, J.Y.6
Le Cam-Duchez, V.7
Briquel, M.E.8
Chambost, H.9
Pouymayou, K.10
Dutrillaux, F.11
Favier, R.12
Martin-Toutain, I.13
Verdy, E.14
Gay, V.15
Goudemand, J.16
Navarro, R.17
Durin, A.18
d'Oiron, R.19
Lambert, T.20
more..
-
22
-
-
33747159859
-
Variable bleeding manifestations characterize different types of surgery in patients with severe factor XI deficiency enabling parsimonious use of replacement therapy
-
Salomon O, Steinberg DM, Seligshon U. Variable bleeding manifestations characterize different types of surgery in patients with severe factor XI deficiency enabling parsimonious use of replacement therapy. Haemophilia 2006; 12: 490-3.
-
(2006)
Haemophilia
, vol.12
, pp. 490-493
-
-
Salomon, O.1
Steinberg, D.M.2
Seligshon, U.3
-
23
-
-
0033875539
-
Role of blood coagulation factor XI in downregulation of fibrinolysis
-
Bouma BN, Meijers JC. Role of blood coagulation factor XI in downregulation of fibrinolysis. Curr Opin Hematol 2000; 7: 266-72.
-
(2000)
Curr Opin Hematol
, vol.7
, pp. 266-272
-
-
Bouma, B.N.1
Meijers, J.C.2
-
24
-
-
0032746651
-
Factor XI dependent and independent activation of thrombin activatable fibrinolysis inhibitor (TAFI) in plasma associated with clot formation
-
Bouma BN, Mosnier LO, Meijers JC, Griffin JH. Factor XI dependent and independent activation of thrombin activatable fibrinolysis inhibitor (TAFI) in plasma associated with clot formation. Thromb Haemost 1999; 82: 1703-8.
-
(1999)
Thromb Haemost
, vol.82
, pp. 1703-1708
-
-
Bouma, B.N.1
Mosnier, L.O.2
Meijers, J.C.3
Griffin, J.H.4
-
25
-
-
2342653511
-
Haemorrhagic symptoms in patients with combined factors V and VIII deficiency in north-eastern Iran
-
Mansouritorgabeh H, Rezaieyazdi Z, Pourfathollah AA, Rezai J, Esamaili H. Haemorrhagic symptoms in patients with combined factors V and VIII deficiency in north-eastern Iran. Haemophilia 2004; 10: 271-5.
-
(2004)
Haemophilia
, vol.10
, pp. 271-275
-
-
Mansouritorgabeh, H.1
Rezaieyazdi, Z.2
Pourfathollah, A.A.3
Rezai, J.4
Esamaili, H.5
-
26
-
-
67749130935
-
Combined factor V and factor VIII deficiency
-
Spreafico M, Peyvandi F. Combined factor V and factor VIII deficiency. Semin Thromb Hemost 2009; 35: 390-9.
-
(2009)
Semin Thromb Hemost
, vol.35
, pp. 390-399
-
-
Spreafico, M.1
Peyvandi, F.2
-
27
-
-
0031881892
-
Bleeding symptoms in 27 Iranian patients with the combined deficiency of factor V and factor VIII
-
Peyvandi F, Tuddenham EG, Akhtari AM, Lak M, Mannucci PM. Bleeding symptoms in 27 Iranian patients with the combined deficiency of factor V and factor VIII. Br J Haematol 1998; 100: 773-6.
-
(1998)
Br J Haematol
, vol.100
, pp. 773-776
-
-
Peyvandi, F.1
Tuddenham, E.G.2
Akhtari, A.M.3
Lak, M.4
Mannucci, P.M.5
-
28
-
-
0037103210
-
Molecular and functional characterization of a natural homozygous Arg67His mutation in the prothrombin gene of a patient with a severe procoagulant defect contrasting with a mild hemorrhagic phenotype
-
Akhavan S, De Cristofaro R, Peyvandi F, Lavoretano S, Landolfi R, Mannucci PM. Molecular and functional characterization of a natural homozygous Arg67His mutation in the prothrombin gene of a patient with a severe procoagulant defect contrasting with a mild hemorrhagic phenotype. Blood 2002; 100: 1347-53.
-
(2002)
Blood
, vol.100
, pp. 1347-1353
-
-
Akhavan, S.1
De Cristofaro, R.2
Peyvandi, F.3
Lavoretano, S.4
Landolfi, R.5
Mannucci, P.M.6
-
31
-
-
35748932957
-
The risk of recurrent venous thromboembolism among heterozygous carriers of factor V Leiden or prothrombin G20210A mutation. A systematic review of prospective studies
-
Marchiori A, Mosena L, Prins MH, Prandoni P. The risk of recurrent venous thromboembolism among heterozygous carriers of factor V Leiden or prothrombin G20210A mutation. A systematic review of prospective studies. Haematologica 2007; 92: 1107-14.
-
(2007)
Haematologica
, vol.92
, pp. 1107-1114
-
-
Marchiori, A.1
Mosena, L.2
Prins, M.H.3
Prandoni, P.4
-
32
-
-
0028877613
-
Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen
-
Haverkate F, Samama M. Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. Thromb Haemost 1995; 73: 151-61.
-
(1995)
Thromb Haemost
, vol.73
, pp. 151-161
-
-
Haverkate, F.1
Samama, M.2
-
33
-
-
0035077234
-
Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis
-
White GC 2nd, Rosendaal F, Aledort LM, Lusher JM, Rothschild C, Ingerslev J. Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 2001; 85: 560.
-
(2001)
Thromb Haemost
, vol.85
, pp. 560
-
-
White 2nd, G.C.1
Rosendaal, F.2
Aledort, L.M.3
Lusher, J.M.4
Rothschild, C.5
Ingerslev, J.6
-
34
-
-
59849093369
-
Break-through bleeding in relation to predicted factor VIII levels in patients receiving prophylactic treatment for severe hemophilia A
-
Collins PW, Blanchette VS, Fischer K, Bjorkman S, Oh M, Fritsch S, Schroth P, Spotts G, Astermark J, Ewenstein B. Break-through bleeding in relation to predicted factor VIII levels in patients receiving prophylactic treatment for severe hemophilia A. J Thromb Haemost 2009; 7: 413-20.
-
(2009)
J Thromb Haemost
, vol.7
, pp. 413-420
-
-
Collins, P.W.1
Blanchette, V.S.2
Fischer, K.3
Bjorkman, S.4
Oh, M.5
Fritsch, S.6
Schroth, P.7
Spotts, G.8
Astermark, J.9
Ewenstein, B.10
-
35
-
-
33644977050
-
A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD)
-
Tosetto A, Rodeghiero F, Castaman G, Goodeve A, Federici AB, Batlle J, Meyer D, Fressinaud E, Mazurier C, Goudemand J, Eikenboom J, Schneppenheim R, Budde U, Ingerslev J, Vorlova Z, Habart D, Holmberg L, Lethagen S, Pasi J, Hill F, et al. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD). J Thromb Haemost 2006; 4: 766-73.
-
(2006)
J Thromb Haemost
, vol.4
, pp. 766-773
-
-
Tosetto, A.1
Rodeghiero, F.2
Castaman, G.3
Goodeve, A.4
Federici, A.B.5
Batlle, J.6
Meyer, D.7
Fressinaud, E.8
Mazurier, C.9
Goudemand, J.10
Eikenboom, J.11
Schneppenheim, R.12
Budde, U.13
Ingerslev, J.14
Vorlova, Z.15
Habart, D.16
Holmberg, L.17
Lethagen, S.18
Pasi, J.19
Hill, F.20
more..
-
36
-
-
0036797888
-
The thrombogram in rare inherited coagulation disorders: its relation to clinical bleeding
-
Al Dieri R, Peyvandi F, Santagostino E, Giansily M, Mannucci PM, Schved JF, Beguin S, Hemker HC. The thrombogram in rare inherited coagulation disorders: its relation to clinical bleeding. Thromb Haemost 2002; 88: 576-82.
-
(2002)
Thromb Haemost
, vol.88
, pp. 576-582
-
-
Al Dieri, R.1
Peyvandi, F.2
Santagostino, E.3
Giansily, M.4
Mannucci, P.M.5
Schved, J.F.6
Beguin, S.7
Hemker, H.C.8
|