-
1
-
-
0033858187
-
Impact, diagnosis and treatment of von Willebrand disease
-
Sadler JE., Mannucci PM, Berntorp E, Bochkov N, Boulyjenkov V, Ginsburg D, Meyer D, Peake IR, Rodeghiero F, Srivastava A. Impact, diagnosis and treatment of von Willebrand disease. Thromb Haemost 2000; 84: 160-74.
-
(2000)
Thromb Haemost
, vol.84
, pp. 160-174
-
-
Sadler, J.E.1
Mannucci, P.M.2
Berntorp, E.3
Bochkov, N.4
Boulyjenkov, V.5
Ginsburg, D.6
Meyer, D.7
Peake, I.R.8
Rodeghiero, F.9
Srivastava, A.10
-
2
-
-
13344295095
-
Initiation of platelet adhesion by arrest onto fibrinogen or translocation on von Willebrand factor
-
Savage B, Saldivar E, Ruggeri ZM. Initiation of platelet adhesion by arrest onto fibrinogen or translocation on von Willebrand factor. Cell 1996; 84: 289-97.
-
(1996)
Cell
, vol.84
, pp. 289-297
-
-
Savage, B.1
Saldivar, E.2
Ruggeri, Z.M.3
-
3
-
-
0028825737
-
Characterization of the unique mechanism mediating the shear-dependent binding of soluble von Willebrand factor to platelets
-
Goto S, Salomon DR, Ikeda Y, Ruggeri ZM. Characterization of the unique mechanism mediating the shear-dependent binding of soluble von Willebrand factor to platelets. J Biol Chem 1995; 270: 23352-61.
-
(1995)
J Biol Chem
, vol.270
, pp. 23352-23361
-
-
Goto, S.1
Salomon, D.R.2
Ikeda, Y.3
Ruggeri, Z.M.4
-
4
-
-
0025243601
-
Cell biology of von Willebrand factor
-
Wagner DD. Cell biology of von Willebrand factor. Annu Rev Cell Biol 1990; 6: 217-46.
-
(1990)
Annu Rev Cell Biol
, vol.6
, pp. 217-246
-
-
Wagner, D.D.1
-
5
-
-
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 JCJ, Favaloro EJ, Hill FGH, Holmberg L, Ingerslev J, Lee CA, Lillicrap D, Mannucci PM, Mazurier C, Meyer D, Nichols WL, Nishino M, Peake IR, Rodeghiero F, Schneppenheim R, Ruggeri ZM, Srivastava A, Montgomery RR, 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: 1-12.
-
(2006)
J Thromb Haemost
, vol.4
, pp. 1-12
-
-
Sadler, J.E.1
Budde, U.2
Eikenboom, J.C.J.3
Favaloro, E.J.4
Hill, F.G.H.5
Holmberg, L.6
Ingerslev, J.7
Lee, C.A.8
Lillicrap, D.9
Mannucci, P.M.10
Mazurier, C.11
Meyer, D.12
Nichols, W.L.13
Nishino, M.14
Peake, I.R.15
Rodeghiero, F.16
Schneppenheim, R.17
Ruggeri, Z.M.18
Srivastava, A.19
Montgomery, R.R.20
more..
-
6
-
-
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, Kasper CK, Ruggeri ZM. Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type.IIA von Willebrand factor. Proc Natl Acad Sci USA 1990; 87: 6306-10.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 6306-6310
-
-
Dent, J.A.1
Berkowitz, S.D.2
Ware, J.3
Kasper, C.K.4
Ruggeri, Z.M.5
-
7
-
-
0026630044
-
Impaired intracellular transport produced by a subset of type.IIA von Willebrand disease mutations
-
Lyons SE, Bruck ME, Bowie EJW, Ginsburg D. 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
Ginsburg, D.4
-
8
-
-
4544232865
-
Molecular modeling of the von Willebrand factor A2 domain and the effects of associated type.2A von Willebrand disease mutations
-
Sutherland JJ, O'Brien LA, Lillicrap D, Weaver DF. Molecular modeling of the von Willebrand factor A2 domain and the effects of associated type.2A von Willebrand disease mutations. J Mol Model 2004; 10: 259-70.
-
(2004)
J Mol Model
, vol.10
, pp. 259-270
-
-
Sutherland, J.J.1
O'Brien, L.A.2
Lillicrap, D.3
Weaver, D.F.4
-
9
-
-
0028040776
-
Characterization of von Willebrand factor gene defects in two unrelated patients with type.IIC von Willebrand disease
-
Gaucher C, Dieval J, Mazurier C. Characterization of von Willebrand factor gene defects in two unrelated patients with type.IIC von Willebrand disease. Blood 1994; 84: 1024-30.
-
(1994)
Blood
, vol.84
, pp. 1024-1030
-
-
Gaucher, C.1
Dieval, J.2
Mazurier, C.3
-
10
-
-
0035312967
-
Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease
-
Schneppenheim R, Budde U, Obser T, Brassard J, Mainusch K, Ruggeri ZM, Schneppenheim S, Schwaab R, Oldenburg J. Expression and characterization of von Willebrand factor 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
Brassard, J.4
Mainusch, K.5
Ruggeri, Z.M.6
Schneppenheim, S.7
Schwaab, R.8
Oldenburg, J.9
-
11
-
-
0022508594
-
A new variant of type.II von Willebrand disease with aberrant multimeric structure of plasma but not platelet von Willebrand factor (type.IIF)
-
Mannucci PM, Lombardi R, Federici AB, Dent JA, Zimmerman TS, Ruggeri ZM. A new variant of type.II von Willebrand disease with aberrant multimeric structure of plasma but not platelet von Willebrand factor (type.IIF). Blood 1986; 68: 269-74.
-
(1986)
Blood
, vol.68
, pp. 269-274
-
-
Mannucci, P.M.1
Lombardi, R.2
Federici, A.B.3
Dent, J.A.4
Zimmerman, T.S.5
Ruggeri, Z.M.6
-
12
-
-
0024355492
-
Type-II-H von Willebrand disease: New structural abnormality of plasma and platelet von Willebrand factor in a patient with prolonged bleeding time and borderline levels of ristocetin cofactor activity
-
Federici AB, Mannucci PM, Lombardi R, Lattuada A, Colibretti ML, Dent JA, Zimmerman TS. Type-II-H von Willebrand disease: New structural abnormality of plasma and platelet von Willebrand factor in a patient with prolonged bleeding time and borderline levels of ristocetin cofactor activity. Am J Hematol 1989; 32: 287-93.
-
(1989)
Am J Hematol
, vol.32
, pp. 287-293
-
-
Federici, A.B.1
Mannucci, P.M.2
Lombardi, R.3
Lattuada, A.4
Colibretti, M.L.5
Dent, J.A.6
Zimmerman, T.S.7
-
13
-
-
0023095637
-
A variant of type.II von Willebrand disease with an abnormal triplet structure and discordant effects of protease inhibitors on plasma and platelet von Willebrand factor structure
-
Gralnick HR, Williams SB, McKeown LP, Maisonneuve P, Jenneau C, Sultan Y. A variant of type.II von Willebrand disease with an abnormal triplet structure and discordant effects of protease inhibitors on plasma and platelet von Willebrand factor structure. Am J Hematol 1987; 24: 259-66.
-
(1987)
Am J Hematol
, vol.24
, pp. 259-266
-
-
Gralnick, H.R.1
Williams, S.B.2
McKeown, L.P.3
Maisonneuve, P.4
Jenneau, C.5
Sultan, Y.6
-
14
-
-
0026520717
-
A new variant of von Willebrand disease (type.II. I) with a normal degree of proteolytic cleavage of von Willebrand factor
-
Castaman G, Rodeghiero F, Lattuada A, Mannucci PM. A new variant of von Willebrand disease (type.II. I) with a normal degree of proteolytic cleavage of von Willebrand factor. Thromb Res 1992; 65: 343-51.
-
(1992)
Thromb Res
, vol.65
, pp. 343-351
-
-
Castaman, G.1
Rodeghiero, F.2
Lattuada, A.3
Mannucci, P.M.4
-
15
-
-
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..
-
16
-
-
43149112326
-
Expression studies of missense mutations p.D141Y, p.C275S located in the propeptide of von Willebrand factor in patients with type.3 von Willebrand disease
-
Baronciani L, Federici AB, Cozzi G, La Marca S, Punzo M, Rubini V, Canciani MT, Mannucci PM. Expression studies of missense mutations p.D141Y, p.C275S located in the propeptide of von Willebrand factor in patients with type.3 von Willebrand disease. Haemophilia 2008; 14: 549-55.
-
(2008)
Haemophilia
, vol.14
, pp. 549-555
-
-
Baronciani, L.1
Federici, A.B.2
Cozzi, G.3
La Marca, S.4
Punzo, M.5
Rubini, V.6
Canciani, M.T.7
Mannucci, P.M.8
-
17
-
-
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, Ciavarella N, Zimmerman TS. 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
Ciavarella, N.4
Zimmerman, T.S.5
-
18
-
-
0024991887
-
Platelet von Willebrand factor assay: Results using two methods for platelet lysis
-
Rodeghiero F, Castaman G, Tosetto A, Mannucci PM. Platelet von Willebrand factor assay: Results using two methods for platelet lysis. Thromb Res 1990; 59: 259-67.
-
(1990)
Thromb Res
, vol.59
, pp. 259-267
-
-
Rodeghiero, F.1
Castaman, G.2
Tosetto, A.3
Mannucci, P.M.4
-
19
-
-
0024425034
-
New variant of von Willebrand disease with defective binding to factor VIII
-
Nishino M, Girma J-P, Rothschild C, Fressinaud E, Meyer D. 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
Fressinaud, E.4
Meyer, D.5
-
20
-
-
0027227873
-
Elevated platelet count as a cause of abnormal von Willebrand factor multimer distribution in plasma
-
Budde U, Scharf RE, Franke P, Hartmann-Budde K, Dent JA, Ruggeri ZM. Elevated platelet count as a cause of abnormal von Willebrand factor multimer distribution in plasma. Blood 1993; 82: 1749-57.
-
(1993)
Blood
, vol.82
, pp. 1749-1757
-
-
Budde, U.1
Scharf, R.E.2
Franke, P.3
Hartmann-Budde, K.4
Dent, J.A.5
Ruggeri, Z.M.6
-
21
-
-
0035001737
-
A standard nomenclature for von Willebrand factor gene mutations and polymorphisms. On behalf of the ISTH SSC Subcommittee on von Willebrand factor
-
Goodeve AC, Eikenboom JC, Ginsburg D, Hilbert L, Mazurier C, Peake IR, Sadler JE, Rodeghiero F. A standard nomenclature for von Willebrand factor gene mutations and polymorphisms. On behalf of the ISTH SSC Subcommittee on von Willebrand factor. Thromb Haemost 2001; 85: 929-31.
-
(2001)
Thromb Haemost
, vol.85
, pp. 929-931
-
-
Goodeve, A.C.1
Eikenboom, J.C.2
Ginsburg, D.3
Hilbert, L.4
Mazurier, C.5
Peake, I.R.6
Sadler, J.E.7
Rodeghiero, F.8
-
22
-
-
0033782679
-
Molecular characterization of a multiethnic group of 21 patients with type-3 von Willebrand disease
-
Baronciani L, Cozzi G, Canciani MT, Peyvandi F, Srivastava A, Federici AB, Mannucci PM. Molecular characterization of a multiethnic group of 21 patients with type-3 von Willebrand disease. Thromb Haemost 2000; 84: 536-40.
-
(2000)
Thromb Haemost
, vol.84
, pp. 536-540
-
-
Baronciani, L.1
Cozzi, G.2
Canciani, M.T.3
Peyvandi, F.4
Srivastava, A.5
Federici, A.B.6
Mannucci, P.M.7
-
23
-
-
0028902353
-
Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia
-
Baronciani L, Beutler E. Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia. J Clin Invest 1995; 95: 1702-9.
-
(1995)
J Clin Invest
, vol.95
, pp. 1702-1709
-
-
Baronciani, L.1
Beutler, E.2
-
24
-
-
27644516551
-
Role of the 2 adenine (g.11293_11294insAA) insertion polymorphism in the 3′ untranslated region of the factor VII (FVII) gene: Molecular characterization of a patient with severe FVII deficiency
-
Peyvandi F, Garagiola I, Palla R, Marziliano N, Mannucci PM. Role of the 2 adenine (g.11293_11294insAA) insertion polymorphism in the 3′ untranslated region of the factor VII (FVII) gene: Molecular characterization of a patient with severe FVII deficiency. Hum Mutat 2005; 26: 455-61.
-
(2005)
Hum Mutat
, vol.26
, pp. 455-461
-
-
Peyvandi, F.1
Garagiola, I.2
Palla, R.3
Marziliano, N.4
Mannucci, P.M.5
-
25
-
-
33645774439
-
Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity
-
Peyvandi F, Lavoretano S, Palla R, Valsecchi C, Merati G, De Cristofaro R, Rossi E, Mannuccio MP. Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity. Hum Mutat 2006; 27: 330-6.
-
(2006)
Hum Mutat
, vol.27
, pp. 330-336
-
-
Peyvandi, F.1
Lavoretano, S.2
Palla, R.3
Valsecchi, C.4
Merati, G.5
De Cristofaro, R.6
Rossi, E.7
Mannuccio, M.P.8
-
26
-
-
0032569884
-
von Willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome
-
Furlan M, Robles R, Galbusera M, Remuzzi G, Kyrle PA, Brenner B, Krause M, Scharrer I, Aumann V, Mittler U, Solenthaler M, Lämmle B. von Willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome. N Engl J Med 1998; 339: 1578-84.
-
(1998)
N Engl J Med
, vol.339
, pp. 1578-1584
-
-
Furlan, M.1
Robles, R.2
Galbusera, M.3
Remuzzi, G.4
Kyrle, P.A.5
Brenner, B.6
Krause, M.7
Scharrer, I.8
Aumann, V.9
Mittler, U.10
Solenthaler, M.11
Lämmle, B.12
-
27
-
-
0033525169
-
A perfect message: RNA surveillance and nonsense-mediated decay
-
Henzte M, Kulozik AE. A perfect message: RNA surveillance and nonsense-mediated decay. Cell 1999; 96: 307-10.
-
(1999)
Cell
, vol.96
, pp. 307-310
-
-
Henzte, M.1
Kulozik, A.E.2
-
28
-
-
0026065681
-
The pro-polypeptide of von Willebrand factor is required for the formation of a functional factor VIII-binding site on mature von Willebrand factor
-
Leyte A, Voorberg J, van Schijndel HB, Duim B, Pannekoek H, van Mourik JA. The pro-polypeptide of von Willebrand factor is required for the formation of a functional factor VIII-binding site on mature von Willebrand factor. Biochem J 1991; 274: 257-61.
-
(1991)
Biochem J
, vol.274
, pp. 257-261
-
-
Leyte, A.1
Voorberg, J.2
van Schijndel, H.B.3
Duim, B.4
Pannekoek, H.5
van Mourik, J.A.6
-
29
-
-
0032521230
-
Molecular modeling of ligand and mutation sites of the type.A domains of human von Willebrand factor and their relevance to von Willebrand's disease
-
Jenkins PV, Pasi KJ, Perkins SJ. Molecular modeling of ligand and mutation sites of the type.A domains of human von Willebrand factor and their relevance to von Willebrand's disease. Blood 1998; 91: 2032-44.
-
(1998)
Blood
, vol.91
, pp. 2032-2044
-
-
Jenkins, P.V.1
Pasi, K.J.2
Perkins, S.J.3
-
30
-
-
0023547917
-
Identification of disulfide-bridged substructures within human von Willebrand factor
-
Marti T, Roesselet S, Titani K, Walsh KA. Identification of disulfide-bridged substructures within human von Willebrand factor. Biochemistry 1987; 26: 8099-109.
-
(1987)
Biochemistry
, vol.26
, pp. 8099-8109
-
-
Marti, T.1
Roesselet, S.2
Titani, K.3
Walsh, K.A.4
-
31
-
-
38349155217
-
Platelet-VWF complexes are preferred substrates of ADAMTS13 under fluid shear stress
-
Shim K, Anderson PJ, Tuley EA, Wiswall E, Sadler JE. Platelet-VWF complexes are preferred substrates of ADAMTS13 under fluid shear stress. Blood 2008; 111: 651-7.
-
(2008)
Blood
, vol.111
, pp. 651-657
-
-
Shim, K.1
Anderson, P.J.2
Tuley, E.A.3
Wiswall, E.4
Sadler, J.E.5
-
32
-
-
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, Holmberg L, Zimmerman TS. 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
Holmberg, L.4
Zimmerman, T.S.5
-
33
-
-
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, Abildgaard CF. 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
Abildgaard, C.F.4
-
34
-
-
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, Nannini LH. 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
Nannini, L.H.4
|