-
1
-
-
0014976247
-
Immunologic differentiation of classic hemophilia (factor 8 deficiency) and von Willebrand's disease, with observations on combined deficiencies of antihemophilic factor and proac-celerin (factor V) and on an acquired circulating anticoagulant against antihemophilic factor
-
Zimmerman TS, Ratnoff OD, Powell AE. Immunologic differentiation of classic hemophilia (factor 8 deficiency) and von Willebrand's disease, with observations on combined deficiencies of antihemophilic factor and proac-celerin (factor V) and on an acquired circulating anticoagulant against antihemophilic factor. J Clin Invest 1971 ; 50: 244-54 .
-
(1971)
J Clin Invest
, vol.50
, pp. 244-254
-
-
Zimmerman, T.S.1
Ratnoff, O.D.2
Powell, A.E.3
-
2
-
-
0015495140
-
Genetic variants of von Willebrand's disease
-
Holmberg L, Nilsson IM. Genetic variants of von Willebrand's disease. Br Med J 1972 ; 3: 317-20 .
-
(1972)
Br Med J
, vol.3
, pp. 317-320
-
-
Holmberg, L.1
Nilsson, I.M.2
-
4
-
-
0016147023
-
Inherited variants of factor-VIII-related protein in von Willebrand's disease
-
Peake IR, Bloom AL, Giddings JC. Inherited variants of factor-VIII-related protein in von Willebrand's disease. N Engl J Med 1974 ; 291: 113-17 .
-
(1974)
N Engl J Med
, vol.291
, pp. 113-117
-
-
Peake, I.R.1
Bloom, A.L.2
Giddings, J.C.3
-
5
-
-
0018888146
-
Multimeric structure of factor VIII/von Willebrand factor in von Willebrand's disease
-
Meyer D, Obert B, Pietu G, et al. Multimeric structure of factor VIII/von Willebrand factor in von Willebrand's disease. J Lab Clin Med 1980 ; 95: 590-602 .
-
(1980)
J Lab Clin Med
, vol.95
, pp. 590-602
-
-
Meyer, D.1
Obert, B.2
Pietu, G.3
-
7
-
-
0018871618
-
Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand's disease
-
Ruggeri ZM, Pareti FI, Mannucci PM, et al. Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand's disease. N Engl J Med 1980 ; 302: 1047-51 .
-
(1980)
N Engl J Med
, vol.302
, pp. 1047-1051
-
-
Ruggeri, Z.M.1
Pareti, F.I.2
Mannucci, P.M.3
-
8
-
-
0018855952
-
Variant von Willebrand's disease: characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets
-
Ruggeri ZM, Zimmerman TS. Variant von Willebrand's disease: characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets. J Clin Invest 1980 ; 65: 1318-25 .
-
(1980)
J Clin Invest
, vol.65
, pp. 1318-1325
-
-
Ruggeri, Z.M.1
Zimmerman, T.S.2
-
9
-
-
0020591405
-
Platelet aggregation induced by 1-desamino-8-D-arginine vasopressin (DDAVP) in type IIB von Willebrand's disease
-
Holmberg L, Nilsson IM, Borge L, et al. Platelet aggregation induced by 1-desamino-8-D-arginine vasopressin (DDAVP) in type IIB von Willebrand's disease. N Engl J Med 1983 ; 309: 816-21 .
-
(1983)
N Engl J Med
, vol.309
, pp. 816-821
-
-
Holmberg, L.1
Nilsson, I.M.2
Borge, L.3
-
10
-
-
0020385308
-
Aberrant multimeric structure of von Willebrand factor in a new variant of von Willebrand's disease (type IIC)
-
Ruggeri ZM, Nilsson IM, Lombardi R, et al. Aberrant multimeric structure of von Willebrand factor in a new variant of von Willebrand's disease (type IIC). J Clin Invest 1982 ; 70: 1124-7 .
-
(1982)
J Clin Invest
, vol.70
, pp. 1124-1127
-
-
Ruggeri, Z.M.1
Nilsson, I.M.2
Lombardi, R.3
-
11
-
-
0022639590
-
von Willebrand disease type IIC with different abnormalities of von Willebrand factor in the same sibship
-
Batlle J, Lopez Fernandez MF, Lasierra J, et al. von Willebrand disease type IIC with different abnormalities of von Willebrand factor in the same sibship. Am J Hematol 1986 ; 21: 177-88 .
-
(1986)
Am J Hematol
, vol.21
, pp. 177-188
-
-
Batlle, J.1
Lopez Fernandez, M.F.2
Lasierra, J.3
-
12
-
-
0021250951
-
A new variant of dominant type II von Willebrand's disease with aberrant multimeric pattern of factor VIII-related antigen (type IID)
-
Kinoshita S, Harrison J, Lazerson J, at al. A new variant of dominant type II von Willebrand's disease with aberrant multimeric pattern of factor VIII-related antigen (type IID). Blood 1984 ; 63: 1369-71 .
-
(1984)
Blood
, vol.63
, pp. 1369-1371
-
-
Kinoshita, S.1
Harrison, J.2
Lazerson, J.3
-
13
-
-
0022517442
-
Subunit composition of plasma von Willebrand factor
-
Zimmerman TS, Dent JA, Ruggeri ZM, et al. Subunit composition of plasma von Willebrand factor. Cleav age is present in normal individuals, increased in IIA and IIB von Willebrand disease, but minimal in variants with aberrant structure of individual oligom ers (types IIC, IID, and IIE). J Clin Invest 1986 ; 77: 947-51 .
-
(1986)
Cleav age is present in normal individuals, increased in IIA and IIB von Willebrand disease, but minimal in variants with aberrant structure of individual oligom ers (types IIC, IID, and IIE). J Clin Invest
, vol.77
, pp. 947-951
-
-
Zimmerman, T.S.1
Dent, J.A.2
Ruggeri, Z.M.3
-
14
-
-
0023612519
-
von Willebrand factor and von Willebrand disease
-
Ruggeri ZM, Zimmerman TS. von Willebrand factor and von Willebrand disease. Blood 1987 ; 70: 895-904 .
-
(1987)
Blood
, vol.70
, pp. 895-904
-
-
Ruggeri, Z.M.1
Zimmerman, T.S.2
-
15
-
-
0027500241
-
von Willebrand disease: a database of point mutations, insertions, and deletions. For the Consortium on von Willebrand Factor Mutations and Polymorphisms, and the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis
-
Ginsburg D, Sadler JE. von Willebrand disease: a database of point mutations, insertions, and deletions. For the Consortium on von Willebrand Factor Mutations and Polymorphisms, and the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 1993 ; 69: 177-84 .
-
(1993)
Thromb Haemost
, vol.69
, pp. 177-184
-
-
Ginsburg, D.1
Sadler, J.E.2
-
16
-
-
0028201807
-
A revised classification of von Willebrand disease
-
Sadler JE. A revised classification of von Willebrand disease. 1994 ; Thromb Haemost 71: 520-5 .
-
(1994)
Thromb Haemost
, vol.71
, pp. 520-525
-
-
Sadler, J.E.1
-
18
-
-
0019998246
-
Willebrand's disease: characterization of a new bleeding disorder
-
Miller JL, Castella A. Willebrand's disease: characterization of a new bleeding disorder. Blood 1982 ; 60: 790-4 .
-
(1982)
Blood
, vol.60
, pp. 790-794
-
-
Miller, J.L.1
Castella, A.2
-
19
-
-
0024425034
-
New variant of von Willebrand disease with defective binding to factor VIII
-
Nishino M, Girma JP, Rothschild C, et al. New variant of von Willebrand disease with defective binding to factor VIII. Blood 1989 ; 74: 1591-9 .
-
(1989)
Blood
, vol.74
, pp. 1591-1599
-
-
Nishino, M.1
Girma, J.P.2
Rothschild, C.3
-
20
-
-
0025012865
-
A new von Willebrand factor (vWF) defect in a patient with factor VIII (FVIII) deficiency but with normal levels and mul-timeric patterns of both plasma and platelet vWF. Characterization of abnormal vWF/FVIII interaction
-
Mazurier C, Dieval J, Jorieux S, et al. A new von Willebrand factor (vWF) defect in a patient with factor VIII (FVIII) deficiency but with normal levels and mul-timeric patterns of both plasma and platelet vWF. Characterization of abnormal vWF/FVIII interaction. Blood 1990 ; 75: 20-6 .
-
(1990)
Blood
, vol.75
, pp. 20-26
-
-
Mazurier, C.1
Dieval, J.2
Jorieux, S.3
-
21
-
-
33748802581
-
Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor
-
Sadler JE, Budde U, Eikenboom JC, et al. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost 2006 ; 4: 2103-14 .
-
(2006)
J Thromb Haemost
, vol.4
, pp. 2103-2114
-
-
Sadler, J.E.1
Budde, U.2
Eikenboom, J.C.3
-
22
-
-
83055187115
-
von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA)
-
Nichols WL, Hultin MB, James AH, et al. von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA). Haemophilia 2008 ; 14: 171-232 .
-
(2008)
Haemophilia
, vol.14
, pp. 171-232
-
-
Nichols, W.L.1
Hultin, M.B.2
James, A.H.3
-
23
-
-
42149120672
-
Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD)
-
Budde U, Schneppenheim R, Eikenboom J, et al. Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD). J Thromb Haemost 2008 ; 6: 762-71 .
-
(2008)
J Thromb Haemost
, vol.6
, pp. 762-771
-
-
Budde, U.1
Schneppenheim, R.2
Eikenboom, J.3
-
24
-
-
33845967766
-
Pheno-type and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)
-
Goodeve A, Eikenboom J, Castaman G, et al. Pheno-type and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood 2007 ; 109: 112-21 .
-
(2007)
Blood
, vol.109
, pp. 112-121
-
-
Goodeve, A.1
Eikenboom, J.2
Castaman, G.3
-
25
-
-
33846026307
-
The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study
-
James PD, Notley C, Hegadorn C, et al. The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study. Blood 2007 ; 109: 145-54 .
-
(2007)
Blood
, vol.109
, pp. 145-154
-
-
James, P.D.1
Notley, C.2
Hegadorn, C.3
-
26
-
-
34548095071
-
Challenges in defining type 2M von Willebrand disease: results from a Canadian cohort study
-
James PD, Notley C, Hegadorn C, et al. Challenges in defining type 2M von Willebrand disease: results from a Canadian cohort study. J Thromb Haemost 2007 ; 5: 1914-22 .
-
(2007)
J Thromb Haemost
, vol.5
, pp. 1914-1922
-
-
James, P.D.1
Notley, C.2
Hegadorn, C.3
-
27
-
-
0029817840
-
Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor
-
Eikenboom JCJ, Matsushita T, Reitsma PH, et al. Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor. Blood 1996 ; 88: 2433-41 .
-
(1996)
Blood
, vol.88
, pp. 2433-2441
-
-
Eikenboom, J.C.J.1
Matsushita, T.2
Reitsma, P.H.3
-
28
-
-
66049129490
-
Autosomal dominant C1149R von Willebrand disease (VWD): phenotypic findings and their implications
-
Pérez -24 Rodríguez A, Garcí a-Rivero A, Lourés E, et al. Autosomal dominant C1149R von Willebrand disease (VWD): phenotypic findings and their implications. Haematologica 2009 ; 94: 679-86 .
-
(2009)
Haematologica
, vol.94
, pp. 679-686
-
-
Pérez-Rodríguez, A.1
Garcí a-Rivero, A.2
Lourés, E.3
-
29
-
-
12344262502
-
Phenotypic and genotypic diagnosis of von Willebrand disease: a 2004 update
-
Schneppenheim R, Budde U. Phenotypic and genotypic diagnosis of von Willebrand disease: a 2004 update. Semin Hematol 2005 ; 42: 15-28 .
-
(2005)
Semin Hematol
, vol.42
, pp. 15-28
-
-
Schneppenheim, R.1
Budde, U.2
-
30
-
-
0002720328
-
Von Willebrand disease: Diagnosis, classification and treatment
-
Lippincott Williams & Wilkins: Philadelphia
-
Sadler J, Blinder M. Von Willebrand disease: Diagnosis, classification and treatment. In: Colman R, Marder V, Claves A, George J, Goldhaber S (eds.). Hemostasis and Thrombosis. Basic Principles and Clinical Practice. 5th edn, pp 905-922. Lippincott Williams & Wilkins: Philadelphia, 2006 .
-
(2006)
In: Colman R, Marder V, Claves A, George J, Goldhaber S (eds.). Hemostasis and Thrombosis. Basic Principles and Clinical Practice. 5th edn
, pp. 905-922
-
-
Sadler, J.1
Blinder, M.2
-
31
-
-
0034912429
-
Type 2 von Willebrand disease causing defective von Willebrand factor -6 dependent platelet function
-
Meyer D , Fressinaud E , Hilbert L , et al. Type 2 von Willebrand disease causing defective von Willebrand factor-dependent platelet function. Best Pract Res Clin Haematol 2001 ; 14: 349 - 64 .
-
(2001)
Best Pract Res Clin Haematol
, vol.14
, pp. 349-364
-
-
Meyer, D.1
Fressinaud, E.2
Hilbert, L.3
-
32
-
-
0034852807
-
Ser968Thr mutation within the A3 domain of von Willebrand factor (VWF) in two related patients leads to a defective binding of VWF to collagen
-
Ribba AS, Loisel I, Lavergne JM, et al. Ser968Thr mutation within the A3 domain of von Willebrand factor (VWF) in two related patients leads to a defective binding of VWF to collagen. Thromb Haemost 2001 ; 86: 848-54 .
-
(2001)
Thromb Haemost
, vol.86
, pp. 848-854
-
-
Ribba, A.S.1
Loisel, I.2
Lavergne, J.M.3
-
33
-
-
0034912338
-
Type 2N von Willebrand disease: clinical manifestations, patho-physiology, laboratory diagnosis and molecular biology
-
Mazurier C, Goudemand J, Hilbert L, et al. Type 2N von Willebrand disease: clinical manifestations, patho-3physiology, laboratory diagnosis and molecular biology. Best Pract Res Clin Haematol 2001 ; 14: 337-47 .
-
(2001)
Best Pract Res Clin Haematol
, vol.14
, pp. 337-347
-
-
Mazurier, C.1
Goudemand, J.2
Hilbert, L.3
-
34
-
-
0026562062
-
Further evidence for recessive inheritance of von Willebrand disease with abnormal binding of von Willebrand factor to factor VIII
-
Lopez-Fernandez MF, Blanco-Lopez MJ, Castiñeira MP, et al. Further evidence for recessive inheritance of von Willebrand disease with abnormal binding of von Willebrand factor to factor VIII. Am J Hematol 1992 ; 40: 20-7
-
(1992)
Am J Hematol
, vol.40
, pp. 20-27
-
-
Lopez-Fernandez, M.F.1
Blanco-Lopez, M.J.2
Castiñeira, M.P.3
-
35
-
-
0034912198
-
Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology
-
Eikenboom JC. Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology. Best Pract Res Clin Haematol 2001 ; 14: 365-79 .
-
(2001)
Best Pract Res Clin Haematol
, vol.14
, pp. 365-379
-
-
Eikenboom, J.C.1
-
36
-
-
0027537705
-
Recessive inheritance of von Willebrand's disease type I
-
Eikenboom JC, Reitsma PH, Peerlinck KM, et al. Recessive inheritance of von Willebrand's disease type I. Lancet 1993 ; 341: 982-6 .
-
(1993)
Lancet
, vol.341
, pp. 982-986
-
-
Eikenboom, J.C.1
Reitsma, P.H.2
Peerlinck, K.M.3
-
37
-
-
0037443406
-
Von Willebrand disease type 1: a diagnosis in search of a disease
-
Sadler JE. Von Willebrand disease type 1: a diagnosis in search of a disease. Blood 2003 ; 101: 2089-93 .
-
(2003)
Blood
, vol.101
, pp. 2089-2093
-
-
Sadler, J.E.1
-
38
-
-
29244439008
-
The discriminant power of bleeding history for the diagnosis of type 1 von Willebrand disease: an international, multi-center study
-
Rodeghiero F, Castaman G, Tosetto A, et al. The discriminant power of bleeding history for the diagnosis of type 1 von Willebrand disease: an international, multi-2center study. J Thromb Haemost 2005 ; 3: 2619-26 .
-
(2005)
J Thromb Haemost
, vol.3
, pp. 2619-2626
-
-
Rodeghiero, F.1
Castaman, G.2
Tosetto, A.3
-
39
-
-
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, et al. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM -26 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
-
40
-
-
12144289138
-
Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: results of a multi-center European study
-
Federici AB, Mazurier C, Berntorp E, et al. Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: results of a multi-7center European study. Blood 2004 ; 103: 2032-8 .
-
(2004)
Blood
, vol.103
, pp. 2032-2038
-
-
Federici, A.B.1
Mazurier, C.2
Berntorp, E.3
-
41
-
-
3943048700
-
Treatment of von Willebrand's Disease
-
Mannucci PM. Treatment of von Willebrand's Disease. N Engl J Med 2004 ; 351: 683-94 .
-
(2004)
N Engl J Med
, vol.351
, pp. 683-694
-
-
Mannucci, P.M.1
-
42
-
-
0036236926
-
Response of von Willebrand factor parameters to desmo-pressin in patients with type 1 and type 2 congenital von Willebrand disease: diagnostic and therapeutic implications
-
Michiels JJ, van de Velde A, van Vliet HH, et al. Response of von Willebrand factor parameters to desmo-203pressin in patients with type 1 and type 2 congenital von Willebrand disease: diagnostic and therapeutic implications. Semin Thromb Hemost 2002 ; 28: 111-32 .
-
(2002)
Semin Thromb Hemost
, vol.28
, pp. 111-132
-
-
Michiels, J.J.1
van de Velde, A.2
van Vliet, H.H.3
-
43
-
-
43549097149
-
Response to desmopressin is influenced by the genotype and phe-notype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD
-
Castaman G, Lethagen S, Federici AB, et al. Response to desmopressin is influenced by the genotype and phe-notype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD. Blood 2008 ; 111: 3531-9 .
-
(2008)
Blood
, vol.111
, pp. 3531-3539
-
-
Castaman, G.1
Lethagen, S.2
Federici, A.B.3
-
44
-
-
33646679113
-
Measurement of von Willebrand factor binding to a recombinant fragment of glycoprotein Ibalpha in an enzyme-linked immu-nosorbent assay based method: performances in patients with type 2B von Willebrand disease
-
Caron C, Hilbert L, Vanhoorelbeke K, et al. Measurement of von Willebrand factor binding to a recombinant fragment of glycoprotein Ibalpha in an enzyme-linked immu-nosorbent assay based method: performances in patients with type 2B von Willebrand disease. Br J Haematol 2006 ; 133: 655 .
-
(2006)
Br J Haematol
, vol.133
, pp. 655
-
-
Caron, C.1
Hilbert, L.2
Vanhoorelbeke, K.3
-
45
-
-
0842307008
-
A sensitive ristocetin cofactor activity assay with recombinant glyc-oprotein Ib α for the diagnosis of patients with low von Willebrand factor levels
-
Federici AB, Canciani MT, Forza I, et al. A sensitive ristocetin cofactor activity assay with recombinant glyc-oprotein Ib α for the diagnosis of patients with low von Willebrand factor levels. Haematologica 2004 ; 89: 77-85 .
-
(2004)
Haematologica
, vol.89
, pp. 77-85
-
-
Federici, A.B.1
Canciani, M.T.2
Forza, I.3
-
46
-
-
57149107591
-
The role of molecular genetics in diagnosing von Willebrand disease
-
James P, Lillicrap D. The role of molecular genetics in diagnosing von Willebrand disease. Semin Thromb Hemost 2008 ; 34: 502-8 .
-
(2008)
Semin Thromb Hemost
, vol.34
, pp. 502-508
-
-
James, P.1
Lillicrap, D.2
|