-
1
-
-
0034653497
-
A novel type 2N von Willebrand disease-causing mutation that results in defective factor VIII binding, multimerization, and secretion of von Willebrand factor
-
Allen S, Abuzenadah AM, Blagg JL et al. A novel type 2N von Willebrand disease-causing mutation that results in defective factor VIII binding, multimerization, and secretion of von Willebrand factor. Blood 2000; 95: 2000-7.
-
(2000)
Blood
, vol.95
, pp. 2000-2007
-
-
Allen, S.1
Abuzenadah, A.M.2
Blagg, J.L.3
-
3
-
-
0026716109
-
On laboratory problems in diagnosing mild von Willebrand's disease
-
Blombäck M, Eneroth P, Andersson O et al. On laboratory problems in diagnosing mild von Willebrand's disease. Am J Hemat 1992; 40: 117-20.
-
(1992)
Am J Hemat
, vol.40
, pp. 117-120
-
-
Blombäck, M.1
Eneroth, P.2
Andersson, O.3
-
4
-
-
0036240434
-
Laboratory diagnosis of congenital von Willebrand disease
-
Budde U, Drewke E, Mainusch K et al. Laboratory diagnosis of congenital von Willebrand disease. Sem Thromb Haemost 2002; 28: 173-98.
-
(2002)
Sem Thromb Haemost
, vol.28
, pp. 173-198
-
-
Budde, U.1
Drewke, E.2
Mainusch, K.3
-
5
-
-
0008904934
-
CBA/VWF: Ag ratio for diagnosis of von Willebrand disease (VWD): Incorrect classification in more than 10% of patients with VWD type 2
-
Budde U, Schneppenheim R, Zieger B et al. CBA/VWF: Ag ratio for diagnosis of von Willebrand disease (VWD): incorrect classification in more than 10% of patients with VWD type 2. Thromb Haemost 1999; 100 (Suppl).
-
(1999)
Thromb Haemost
, vol.100
, Issue.SUPPL.
-
-
Budde, U.1
Schneppenheim, R.2
Zieger, B.3
-
6
-
-
0035746912
-
Von Willebrand factor and von Willebrand disease
-
Budde U, Schneppenheim R. Von Willebrand factor and von Willebrand disease. Rev Clin Exp Hematol 2001; 5: 335-63.
-
(2001)
Rev Clin Exp Hematol
, vol.5
, pp. 335-363
-
-
Budde, U.1
Schneppenheim, R.2
-
7
-
-
0035133077
-
Type 2M von Willebrand disease variant characterized by abnormal multimerization
-
Casonato A, Pontara E, Sartorello F et al. Type 2M von Willebrand disease variant characterized by abnormal multimerization. J Lab Clin Med 2001; 137: 70-6.
-
(2001)
J Lab Clin Med
, vol.137
, pp. 70-76
-
-
Casonato, A.1
Pontara, E.2
Sartorello, F.3
-
8
-
-
0024431834
-
A new congenital platelet abnormality characterized by spontaneous platelet aggregation, enhanced von Willebrand factor platelet interaction, and the presence of all von Willebrand factor multimers in plasma
-
Casonato A, De Marco L, Mazzucato M et al. A new congenital platelet abnormality characterized by spontaneous platelet aggregation, enhanced von Willebrand factor platelet interaction, and the presence of all von Willebrand factor multimers in plasma. Blood 1989; 74: 2028-33.
-
(1989)
Blood
, vol.74
, pp. 2028-2033
-
-
Casonato, A.1
De Marco, L.2
Mazzucato, M.3
-
9
-
-
0023392677
-
Type IIB von Willebrand factor with normal sialic acid content induces platelet aggregation in the absence of ristocetin. Role of platelet activation, fibrinogen, and two distinct membrane receptors
-
De Marco L, Mazzuccato M, Del Ben MG et al. Type IIB von Willebrand factor with normal sialic acid content induces platelet aggregation in the absence of ristocetin. Role of platelet activation, fibrinogen, and two distinct membrane receptors. J Clin Invest 1987; 80: 475-81.
-
(1987)
J Clin Invest
, vol.80
, pp. 475-481
-
-
De Marco, L.1
Mazzuccato, M.2
Del Ben, M.G.3
-
10
-
-
0024348742
-
Von Willebrand factor promotes endothelial celladhesion via an arg-gly-asp-dependent mechanism
-
Dejana E, Lampugnani MG, Giorgi M et al. Von Willebrand factor promotes endothelial celladhesion via an arg-gly-asp-dependent mechanism. J Cell Biol 1989; 109: 367-75.
-
(1989)
J Cell Biol
, vol.109
, pp. 367-375
-
-
Dejana, E.1
Lampugnani, M.G.2
Giorgi, M.3
-
11
-
-
0025044664
-
Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor
-
Dent JA, Berkowitz SD, Ware J et al. Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor. Proc Natl Acad Sci U.S.A. 1990; 87: 6306-10.
-
(1990)
Proc Natl Acad Sci U.S.A.
, vol.87
, pp. 6306-6310
-
-
Dent, J.A.1
Berkowitz, S.D.2
Ware, J.3
-
12
-
-
0028302072
-
Disulfide bonds required to assemble functional von Willebrand factor
-
Dong Z, Thoma RS, Crimmins DL et al. Disulfide bonds required to assemble functional von Willebrand factor. J Biol Chem 1994; 269: 6753-8.
-
(1994)
J Biol Chem
, vol.269
, pp. 6753-6758
-
-
Dong, Z.1
Thoma, R.S.2
Crimmins, D.L.3
-
13
-
-
0029925856
-
Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis
-
Furlan M, Robles R, Lämmle P. Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis. Blood 1996; 87: 4223-34.
-
(1996)
Blood
, vol.87
, pp. 4223-4234
-
-
Furlan, M.1
Robles, R.2
Lämmle, P.3
-
14
-
-
0023257218
-
The effect of AB0 blood group on the diagnosis of von Willebrand disease
-
Gill JC, Endres-Brooks J, Bauer PJ et al. The effect of AB0 blood group on the diagnosis of von Willebrand disease. Blood 1987; 69: 1691-5.
-
(1987)
Blood
, vol.69
, pp. 1691-1695
-
-
Gill, J.C.1
Endres-Brooks, J.2
Bauer, P.J.3
-
15
-
-
0033861690
-
Type 2M VWD resulting from a lysine deletion within a four lysine residue repeat in the A1 loop of von Willebrand factor
-
Hilbert L, Jenkins PV, Gaucher C et al. Type 2M VWD resulting from a lysine deletion within a four lysine residue repeat in the A1 loop of von Willebrand factor. Thromb Haemost 2000; 84: 188-94.
-
(2000)
Thromb Haemost
, vol.84
, pp. 188-194
-
-
Hilbert, L.1
Jenkins, P.V.2
Gaucher, C.3
-
16
-
-
0018856312
-
Factor VIII-related protein circulates in normal human plasma as high molecular weight multimers
-
Hoyer LW, Shainoff JR. Factor VIII-related protein circulates in normal human plasma as high molecular weight multimers. Blood 1980; 55: 1056-9.
-
(1980)
Blood
, vol.55
, pp. 1056-1059
-
-
Hoyer, L.W.1
Shainoff, J.R.2
-
17
-
-
0035073745
-
Standardisation of factor VIII and von Willebrand factor in plasma: Calibration of the 4th International Standard (97/586)
-
Hubbard AR, Rigsby P, Barrowcliffe TW. Standardisation of factor VIII and von Willebrand factor in plasma: Calibration of the 4th International Standard (97/586). Thromb Haemost 2001; 85: 634-8.
-
(2001)
Thromb Haemost
, vol.85
, pp. 634-638
-
-
Hubbard, A.R.1
Rigsby, P.2
Barrowcliffe, T.W.3
-
18
-
-
0031571750
-
Crystal structure of the A3 domain of human von Willebrand factor: Implications for collagen binding
-
Huizinga EG, van der Plas RM, Kroon J et al. Crystal structure of the A3 domain of human von Willebrand factor: implications for collagen binding. Structure 1997; 5: 1147-56.
-
(1997)
Structure
, vol.5
, pp. 1147-1156
-
-
Huizinga, E.G.1
Van Der Plas, R.M.2
Kroon, J.3
-
19
-
-
0034658433
-
Conformational changes in the D′ domain of von Willebrand factor induced by CYS25 and CYS95 mutations lead to factor VIII binding defect and multimeric impairment
-
Jorieux S, Fressinaud E, Goudemand J et al. Conformational changes in the D′ domain of von Willebrand factor induced by CYS25 and CYS95 mutations lead to factor VIII binding defect and multimeric impairment. Blood 2000; 95: 3139-45.
-
(2000)
Blood
, vol.95
, pp. 3139-3145
-
-
Jorieux, S.1
Fressinaud, E.2
Goudemand, J.3
-
20
-
-
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 et 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
-
21
-
-
0027314657
-
New variant of von Willebrand disease type II with markedly increased levels of von Willebrand factor antigen and dominant mode of inheritance: Von Willebrand disease type IIC Miami
-
Ledford M, Rabinowtz I, Sadler JE et al. New variant of von Willebrand disease type II with markedly increased levels of von Willebrand factor antigen and dominant mode of inheritance: von Willebrand disease type IIC Miami. Blood 1993; 82: 169-75.
-
(1993)
Blood
, vol.82
, pp. 169-175
-
-
Ledford, M.1
Rabinowtz, I.2
Sadler, J.E.3
-
22
-
-
0026630044
-
Impaired intracellular transport produced by a subset of type-IIA von Willebrand disease mutations
-
Lyons SE, Bruck ME, Bowie EJW et al. Impaired intracellular transport produced by a subset of type-IIA von Willebrand disease mutations. J Biol Chem 1992; 267: 4424-30.
-
(1992)
J Biol Chem
, vol.267
, pp. 4424-4430
-
-
Lyons, S.E.1
Bruck, M.E.2
Bowie, E.J.W.3
-
23
-
-
0034912338
-
Type 2N von Willebrand disease: Clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology
-
Mazurier C, Goudemand J, Hilbert L et al. Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology. Bailliere's Clinical Haematology 2001; 14: 337-47.
-
(2001)
Bailliere's Clinical Haematology
, vol.14
, pp. 337-347
-
-
Mazurier, C.1
Goudemand, J.2
Hilbert, L.3
-
24
-
-
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
-
25
-
-
0034532364
-
Identifications of type 2 von Willebrand disease in previously diagnosed type 1 patients: A reappraisal using phenotypes, genotypes and molecular modelling
-
Nitu-Whalley IC, Ridell A, Lee CA et al. Identifications of type 2 von Willebrand disease in previously diagnosed type 1 patients: a reappraisal using phenotypes, genotypes and molecular modelling. Thromb Haemost 2000; 84: 998-1004.
-
(2000)
Thromb Haemost
, vol.84
, pp. 998-1004
-
-
Nitu-Whalley, I.C.1
Ridell, A.2
Lee, C.A.3
-
26
-
-
0021366106
-
Evidence that three adhesive proteins interact with a common recognition site on activated platelets
-
Plow EF, Srouji AH, Meyer D et al. Evidence that three adhesive proteins interact with a common recognition site on activated platelets. J Biol Chem 1984; 259: 5385-91.
-
(1984)
J Biol Chem
, vol.259
, pp. 5385-5391
-
-
Plow, E.F.1
Srouji, A.H.2
Meyer, D.3
-
27
-
-
0024577196
-
Von Willebrand factor is an acute phase reactant in man
-
Pottinger BE, Read RC, Paleolog EM et al. Von Willebrand factor is an acute phase reactant in man. Thromb Res 1989; 53: 387-95.
-
(1989)
Thromb Res
, vol.53
, pp. 387-395
-
-
Pottinger, B.E.1
Read, R.C.2
Paleolog, E.M.3
-
28
-
-
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
-
29
-
-
0023164845
-
Epidemiological investigation of the prevalence of von Willebrand's disease
-
Rodeghiero F, Castaman GC, Dini E. Epidemiological investigation of the prevalence of von Willebrand's disease. Blood 1987; 69: 454-9.
-
(1987)
Blood
, vol.69
, pp. 454-459
-
-
Rodeghiero, F.1
Castaman, G.C.2
Dini, E.3
-
30
-
-
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
-
31
-
-
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
-
32
-
-
0023637601
-
New perspectives in cell adhesion: RGD and integrins
-
Ruoslahti E, Pierschbacher MD. New perspectives in cell adhesion: RGD and integrins. Science 1987; 328: 491-7.
-
(1987)
Science
, vol.328
, pp. 491-497
-
-
Ruoslahti, E.1
Pierschbacher, M.D.2
-
33
-
-
0029916821
-
Defective dimerization of von Willebrand factor subunits due to a Cys Arg mutation in IID von Willebrand disease
-
Schneppenheim R, Brassard J, Krey S et al. Defective dimerization of von Willebrand factor subunits due to a Cys Arg mutation in IID von Willebrand disease. Proc Natl Acad Sci USA 1996; 938: 3581-6.
-
(1996)
Proc Natl Acad Sci USA
, vol.938
, pp. 3581-3586
-
-
Schneppenheim, R.1
Brassard, J.2
Krey, S.3
-
34
-
-
0035312967
-
Expression and characterization of von Willebrand dimerization defects in different types of von Willebrand disease
-
Schneppenheim R, Budde U, Obser T et al. Expression and characterization of von Willebrand dimerization defects in different types of von Willebrand disease. Blood 2001; 97: 2059-66.
-
(2001)
Blood
, vol.97
, pp. 2059-2066
-
-
Schneppenheim, R.1
Budde, U.2
Obser, T.3
-
35
-
-
0033971892
-
Von Willebrand disease type 2M »Vicenza« in Italian and German patients: Identification of the first candidate mutation (G3864R; R1205H) in 8 families
-
Schneppenheim R, Federici AB, Budde U et al. Von Willebrand disease type 2M »Vicenza« in Italian and German patients: identification of the first candidate mutation (G3864R; R1205H) in 8 families. Thromb Haemost 2000; 83: 136-40.
-
(2000)
Thromb Haemost
, vol.83
, pp. 136-140
-
-
Schneppenheim, R.1
Federici, A.B.2
Budde, U.3
-
36
-
-
79960971638
-
Isolated molecular defects of von Willebrand factor binding to collagen do not correlate with bleeding symptoms
-
Schneppenheim R, Obser T, Drewke E et al. Isolated molecular defects of von Willebrand factor binding to collagen do not correlate with bleeding symptoms. Blood 2001; 98: 165a.
-
(2001)
Blood
, vol.98
-
-
Schneppenheim, R.1
Obser, T.2
Drewke, E.3
-
37
-
-
0000621493
-
The first mutations in von Willebrand disease type IIC Miami
-
Schneppenheim R, Obser T, Drewke E et al. The first mutations in von Willebrand disease type IIC Miami. Thromb Haemost 2001; (Suppl): P1805.
-
(2001)
Thromb Haemost
, Issue.SUPPL.
-
-
Schneppenheim, R.1
Obser, T.2
Drewke, E.3
-
38
-
-
0003200865
-
Characterization of a combined defect of FVIII binding and multimerization in a patient with von Willebrand disease type 2N
-
Schneppenheim R, Obser T, Lenk H et al. Characterization of a combined defect of FVIII binding and multimerization in a patient with von Willebrand disease type 2N. Blood 2000; 96: 566a.
-
(2000)
Blood
, vol.96
-
-
Schneppenheim, R.1
Obser, T.2
Lenk, H.3
-
39
-
-
0003228197
-
Von Willebrand disease type 2A with aberrant structure of individual oligomers is caused by mutations clustering in the von Willebrand factor D3 domain
-
Schneppenheim R, Obser T, Schneppenheim S et al. Von Willebrand disease type 2A with aberrant structure of individual oligomers is caused by mutations clustering in the von Willebrand factor D3 domain. Blood 2000; 96: 566a.
-
(2000)
Blood
, vol.96
-
-
Schneppenheim, R.1
Obser, T.2
Schneppenheim, S.3
-
40
-
-
0025899266
-
Von Willebrand factor and the blood vessel wall
-
Sixma JJ, De Groot PG. Von Willebrand factor and the blood vessel wall. Mayo Clin Proc 1991; 66: 628-3.
-
(1991)
Mayo Clin Proc
, vol.66
, pp. 628-623
-
-
Sixma, J.J.1
De Groot, P.G.2
-
41
-
-
0027984194
-
A simple test for the determination of the von Willebrand factor function: The collagen binding activity
-
Thomas KB, Sutor AH, Zieger B et al. A simple test for the determination of the von Willebrand factor function: The collagen binding activity. Hämostaseologie 1994; 14: 133-9.
-
(1994)
Hämostaseologie
, vol.14
, pp. 133-139
-
-
Thomas, K.B.1
Sutor, A.H.2
Zieger, B.3
-
42
-
-
0029878123
-
Physiologic cleavage of von Willebrand factor by a plasma protease is depentent on its confirmation and requires calcium ion
-
Tsai HM. Physiologic cleavage of von Willebrand factor by a plasma protease is depentent on its confirmation and requires calcium ion. Blood 1996; 87: 4235-44.
-
(1996)
Blood
, vol.87
, pp. 4235-4244
-
-
Tsai, H.M.1
-
43
-
-
0030824891
-
New families with von Willebrand disease type 2M (Vicenza)
-
Zieger B, Budde U, Jessat U et al. New families with von Willebrand disease type 2M (Vicenza). Thromb Res 1997; 87: 57-64.
-
(1997)
Thromb Res
, vol.87
, pp. 57-64
-
-
Zieger, B.1
Budde, U.2
Jessat, U.3
-
44
-
-
0022517442
-
Subunit composition of plasma von Willebrand factor. Cleavage is present in normal individuals, increased in IIA and IIB von Willebrand disease, but minimal in variants with aberrant structure of individual oligomers (types IIC, IID and IIE)
-
Zimmerman TS, Dent JA, Ruggeri ZM et al. Subunit composition of plasma von Willebrand factor. Cleavage is present in normal individuals, increased in IIA and IIB von Willebrand disease, but minimal in variants with aberrant structure of individual oligomers (types IIC, IID and IIE). J Clin Invest 1986; 77: 947-51.
-
(1986)
J Clin Invest
, vol.77
, pp. 947-951
-
-
Zimmerman, T.S.1
Dent, J.A.2
Ruggeri, Z.M.3
-
45
-
-
0001374401
-
A reliable and reproducible ELISA method to measure ristocetin cofactor activity of von Willebrand factor
-
Vanhoorelbeke K, Cauwenbergs N, Vauterin S et al. A reliable and reproducible ELISA method to measure ristocetin cofactor activity of von Willebrand factor. Thromb Haemost 2000; 83: 107-13.
-
(2000)
Thromb Haemost
, vol.83
, pp. 107-113
-
-
Vanhoorelbeke, K.1
Cauwenbergs, N.2
Vauterin, S.3
|