-
1
-
-
0002459799
-
Classification of von Willebrand disease
-
Verstraete M., Vermylen J., Lijnen R., and Arnout J. (Eds), Leuven University Press, Leuven
-
Ruggeri Z.M. Classification of von Willebrand disease. In: Verstraete M., Vermylen J., Lijnen R., and Arnout J. (Eds). Thrombosis and Haemostasis 1987 (1987), Leuven University Press, Leuven 419-445
-
(1987)
Thrombosis and Haemostasis 1987
, pp. 419-445
-
-
Ruggeri, Z.M.1
-
2
-
-
33748802581
-
Working party on von Willebrand disease classification. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor
-
Sadler J.E., Budde U., Eikenboom J.C., et al. Working party on von Willebrand disease classification. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J. Thromb. Haemost. 4 (2006) 2103-2114
-
(2006)
J. Thromb. Haemost.
, vol.4
, pp. 2103-2114
-
-
Sadler, J.E.1
Budde, U.2
Eikenboom, J.C.3
-
3
-
-
0026011654
-
Human von Willebrand factor gene and pseudogene structural analysis and differentiation by polymerase chain reaction
-
Mancuso D.J., Tuley E.A., Westfield L.A., et al. Human von Willebrand factor gene and pseudogene structural analysis and differentiation by polymerase chain reaction. Biochemistry 30 (1991) 253-269
-
(1991)
Biochemistry
, vol.30
, pp. 253-269
-
-
Mancuso, D.J.1
Tuley, E.A.2
Westfield, L.A.3
-
4
-
-
0022457087
-
Amino acid sequence of human von Willebrand factor
-
Titani K., Kumar S., Takio K., et al. Amino acid sequence of human von Willebrand factor. Biochemistry 25 (1986) 3171-3184
-
(1986)
Biochemistry
, vol.25
, pp. 3171-3184
-
-
Titani, K.1
Kumar, S.2
Takio, K.3
-
5
-
-
0022532391
-
cDNA sequence for human von Willebrand factor reveals five types of repeated domains and five possible protein sequence polymorphisms
-
Shelton-Inloes B.B., Titani K., and Sadler J.E. cDNA sequence for human von Willebrand factor reveals five types of repeated domains and five possible protein sequence polymorphisms. Biochemistry 25 (1986) 3164-3171
-
(1986)
Biochemistry
, vol.25
, pp. 3164-3171
-
-
Shelton-Inloes, B.B.1
Titani, K.2
Sadler, J.E.3
-
6
-
-
48749111751
-
-
http://www.shef.ac.uk/vwf/ and http://www.ragtimedesign.com/vwf/mutation/.
-
http://www.shef.ac.uk/vwf/ and http://www.ragtimedesign.com/vwf/mutation/.
-
-
-
-
7
-
-
0026849361
-
Identification of a new nonsense mutation in the von Willebrand factor gene in patients with von Willebrand disease type III
-
Zhang Z.P., Falk G., Blomback M., et al. Identification of a new nonsense mutation in the von Willebrand factor gene in patients with von Willebrand disease type III. Hum. Mol. Genet. 1 (1992) 61-62
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 61-62
-
-
Zhang, Z.P.1
Falk, G.2
Blomback, M.3
-
8
-
-
0028027430
-
Genetic heterogeneity of severe von Willebrand disease type III in German population
-
Schneppenheim R., Krey S., Gergmann, et al. Genetic heterogeneity of severe von Willebrand disease type III in German population. Hum. Genet. 94 (1994) 640-652
-
(1994)
Hum. Genet.
, vol.94
, pp. 640-652
-
-
Schneppenheim, R.1
Krey, S.2
Gergmann3
-
9
-
-
0037624499
-
Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients
-
Baronciani L., Cozzi G., Canciani M.T., et al. Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients. Blood Cells Mol. Diseases 30 (2003) 264-270
-
(2003)
Blood Cells Mol. Diseases
, vol.30
, pp. 264-270
-
-
Baronciani, L.1
Cozzi, G.2
Canciani, M.T.3
-
10
-
-
0001324515
-
A one-stage factor VIII (antihaemophilic globulin) assay and its use on venous and capillary plasma
-
Hardisty R.M., and McPherson J.C. A one-stage factor VIII (antihaemophilic globulin) assay and its use on venous and capillary plasma. Thromb. Diath. Haemorrh. 7 (1962) 215-229
-
(1962)
Thromb. Diath. Haemorrh.
, vol.7
, pp. 215-229
-
-
Hardisty, R.M.1
McPherson, J.C.2
-
11
-
-
0017587802
-
Enzyme-linked immunoabsorbent assay of factor VIII-related antigen. Interest in study of Von Willebrand's disease
-
Mazurier C., Parquet Gernez A., and Goudemand M. Enzyme-linked immunoabsorbent assay of factor VIII-related antigen. Interest in study of Von Willebrand's disease. Pathol. Biol. Paris 25 (1977) 18-24
-
(1977)
Pathol. Biol. Paris
, vol.25
, pp. 18-24
-
-
Mazurier, C.1
Parquet Gernez, A.2
Goudemand, M.3
-
12
-
-
0016865340
-
A method for assaying von Willebrand factor (ristocetin cofactor) [letter]
-
Macfarlane D.E., Stibbe J., Kirby E.P., et al. A method for assaying von Willebrand factor (ristocetin cofactor) [letter]. Thromb. Diath. Haemorrh. 34 (1975) 306-308
-
(1975)
Thromb. Diath. Haemorrh.
, vol.34
, pp. 306-308
-
-
Macfarlane, D.E.1
Stibbe, J.2
Kirby, E.P.3
-
13
-
-
0015856625
-
Quantitative assay of a plasma factor deficient in von Willebrand's disease that is necessary for platelet aggregation. Relationship to factor VIII procoagulant activity and antigen content
-
Weiss Harvey J., Hoyer L.W., Rickles Frederick R., Varma A., and Rogers J. Quantitative assay of a plasma factor deficient in von Willebrand's disease that is necessary for platelet aggregation. Relationship to factor VIII procoagulant activity and antigen content. J. Clin. Invest. 52 (1973) 2708-2716
-
(1973)
J. Clin. Invest.
, vol.52
, pp. 2708-2716
-
-
Weiss Harvey, J.1
Hoyer, L.W.2
Rickles Frederick, R.3
Varma, A.4
Rogers, J.5
-
14
-
-
0022494191
-
An ELISA test for the binding of von Willebrand antigen to collagen
-
Brown J.E., and Bosak J.O. An ELISA test for the binding of von Willebrand antigen to collagen. Thromb. Res. 43 (1986) 303-311
-
(1986)
Thromb. Res.
, vol.43
, pp. 303-311
-
-
Brown, J.E.1
Bosak, J.O.2
-
15
-
-
0019442145
-
The complex multimeric composition of factor VIII/von Willebrand factor
-
Ruggeri Z.M., and Zimmerman T.S. The complex multimeric composition of factor VIII/von Willebrand factor. Blood 57 (1981) 1140-1143
-
(1981)
Blood
, vol.57
, pp. 1140-1143
-
-
Ruggeri, Z.M.1
Zimmerman, T.S.2
-
16
-
-
0023815697
-
Luminography - an alternative assay for detection of von Willebrand factor multimers
-
Schneppenheim R., Plendl H., and Budde U. Luminography - an alternative assay for detection of von Willebrand factor multimers. Thromb. Haemost. 60 (1988) 133-136
-
(1988)
Thromb. Haemost.
, vol.60
, pp. 133-136
-
-
Schneppenheim, R.1
Plendl, H.2
Budde, U.3
-
18
-
-
0029916821
-
Defective dimerisation of von Willebrand factor subunits due to a Cys-Arg mutation in type IID von Willebrand disease
-
Schneppenheim R., Brassard J., Krey S., Budde U., Kunicki T.J., Holmberg L., Ware J., and Ruggeri Z.M. Defective dimerisation of von Willebrand factor subunits due to a Cys-Arg mutation in type IID von Willebrand disease. Proc. Natl. Acad. Sci. U. S. A. 93 (1996) 3581-3586
-
(1996)
Proc. Natl. Acad. Sci. U. S. A.
, vol.93
, pp. 3581-3586
-
-
Schneppenheim, R.1
Brassard, J.2
Krey, S.3
Budde, U.4
Kunicki, T.J.5
Holmberg, L.6
Ware, J.7
Ruggeri, Z.M.8
-
19
-
-
0026640029
-
Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand's disease type III and type I
-
Zhang Z.P., Lindstedt M., Falk G., et al. Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand's disease type III and type I. Am. J. Hum. Genet. 51 (1992) 850-858
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 850-858
-
-
Zhang, Z.P.1
Lindstedt, M.2
Falk, G.3
-
20
-
-
0026004397
-
A stop codon in patient with severe type III von Willebrand disease
-
(letter)
-
Bahnak B.R., Lavergne J.M., Rothschild C., et al. A stop codon in patient with severe type III von Willebrand disease. Blood 78 (1991) 1148-1149 (letter)
-
(1991)
Blood
, vol.78
, pp. 1148-1149
-
-
Bahnak, B.R.1
Lavergne, J.M.2
Rothschild, C.3
-
21
-
-
0029135286
-
Effects of the mutant von Willebrand factor gene in von Willebrand disease
-
Zhang Z.P., Lindstedt M., Blomback M., and Anvert M. Effects of the mutant von Willebrand factor gene in von Willebrand disease. Hum. Genet. 96 (1995) 388-394
-
(1995)
Hum. Genet.
, vol.96
, pp. 388-394
-
-
Zhang, Z.P.1
Lindstedt, M.2
Blomback, M.3
Anvert, M.4
-
22
-
-
0025202103
-
The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene
-
Pattinson J.K., Millar D.S., Mcvey J.H., et al. The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene. Blood 76 (1990) 2242-2248
-
(1990)
Blood
, vol.76
, pp. 2242-2248
-
-
Pattinson, J.K.1
Millar, D.S.2
Mcvey, J.H.3
-
23
-
-
0024421194
-
Heterogeneous phenotypes of platelet and plasma von Willebrand factor in obligatory heterozygotes for severe von Willebrand disease
-
Mannucci P.M., Lattuada A., Castaman G., et al. Heterogeneous phenotypes of platelet and plasma von Willebrand factor in obligatory heterozygotes for severe von Willebrand disease. Blood 74 (1989) 2433-2436
-
(1989)
Blood
, vol.74
, pp. 2433-2436
-
-
Mannucci, P.M.1
Lattuada, A.2
Castaman, G.3
-
24
-
-
0031957351
-
Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin
-
Eikenboom J.C.J., Castaman G., Vos H.L., et al. Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin. Thromb. Haemost. 79 (1998) 709-717
-
(1998)
Thromb. Haemost.
, vol.79
, pp. 709-717
-
-
Eikenboom, J.C.J.1
Castaman, G.2
Vos, H.L.3
-
25
-
-
0027755296
-
Requirement for both D domains of the propolypeptide in von Willebrand factor multimerization and storage
-
Journet A.M., Saffaripour S., and Wagner D.D. Requirement for both D domains of the propolypeptide in von Willebrand factor multimerization and storage. Thromb. Haemost. 70 (1993) 1053-1057
-
(1993)
Thromb. Haemost.
, vol.70
, pp. 1053-1057
-
-
Journet, A.M.1
Saffaripour, S.2
Wagner, D.D.3
-
26
-
-
0034661897
-
A novel von Willebrand disease - causing mutation (Arg 273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion
-
Allen S., Abuzenadah A.M., Hinks J., Blagg J.L., Gursel T., Ingersleve J., Goodeve A.C., Peake I.R., and Daly M.E. A novel von Willebrand disease - causing mutation (Arg 273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion. Blood 96 2 (2000) 560-568
-
(2000)
Blood
, vol.96
, Issue.2
, pp. 560-568
-
-
Allen, S.1
Abuzenadah, A.M.2
Hinks, J.3
Blagg, J.L.4
Gursel, T.5
Ingersleve, J.6
Goodeve, A.C.7
Peake, I.R.8
Daly, M.E.9
-
27
-
-
0028345761
-
Multiple substitutions in the von Willebrand factor that mimic the pseudogene sequence
-
Eikenboom J.C.J., Vink T., Briet E., et al. Multiple substitutions in the von Willebrand factor that mimic the pseudogene sequence. Proceedings of National Academic Sciences. USA 91 (1994) 2221-2224
-
(1994)
Proceedings of National Academic Sciences. USA
, vol.91
, pp. 2221-2224
-
-
Eikenboom, J.C.J.1
Vink, T.2
Briet, E.3
-
28
-
-
0027258360
-
Von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure
-
Holmberg L., Dent J.A., Schneppenheim R., et al. Von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure. J. Clin. Invest. 91 (1993) 2169-2177
-
(1993)
J. Clin. Invest.
, vol.91
, pp. 2169-2177
-
-
Holmberg, L.1
Dent, J.A.2
Schneppenheim, R.3
-
29
-
-
0030200020
-
A sequence analysis of von Willebrand factor mRNA, gene, and pseudogene in two patients with von Willebrand disease type 2B, and an investigation of gene conversion in its gene
-
Kanaji T., Okamura T., Kuroiwa M., et al. A sequence analysis of von Willebrand factor mRNA, gene, and pseudogene in two patients with von Willebrand disease type 2B, and an investigation of gene conversion in its gene. Intern. J. Hematol. 64 1 (1996) 53-59
-
(1996)
Intern. J. Hematol.
, vol.64
, Issue.1
, pp. 53-59
-
-
Kanaji, T.1
Okamura, T.2
Kuroiwa, M.3
-
30
-
-
0035412405
-
Homozygous gene conversion in von Willebrand factor gene as a cause of type 3 von Willebrand disease and predisposition to inhibitor development
-
Surdhar G.K., Enayat M.S., Lawson S., et al. Homozygous gene conversion in von Willebrand factor gene as a cause of type 3 von Willebrand disease and predisposition to inhibitor development. Blood 98 1 (2001) 248-250
-
(2001)
Blood
, vol.98
, Issue.1
, pp. 248-250
-
-
Surdhar, G.K.1
Enayat, M.S.2
Lawson, S.3
-
31
-
-
27244434480
-
Gene conversions are a common cause of von Willebrand disease
-
Gupta P.K., Adamtziki E., Budde U., et al. Gene conversions are a common cause of von Willebrand disease. Brit. J. Haematol. 130 (2005) 752-758
-
(2005)
Brit. J. Haematol.
, vol.130
, pp. 752-758
-
-
Gupta, P.K.1
Adamtziki, E.2
Budde, U.3
-
32
-
-
0019795095
-
Chi, a protomer of generalized recombination in l phage, is present in immunoglobulin genes
-
Kenter A.L., and Birshtein B.K. Chi, a protomer of generalized recombination in l phage, is present in immunoglobulin genes. Nature 293 (1981) 402-404
-
(1981)
Nature
, vol.293
, pp. 402-404
-
-
Kenter, A.L.1
Birshtein, B.K.2
-
33
-
-
0034533212
-
Q1311X - a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene
-
Casana P., Francisco M., and Haya S. Q1311X - a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene. Brit. J. Haematol. 111 (2000) 552-555
-
(2000)
Brit. J. Haematol.
, vol.111
, pp. 552-555
-
-
Casana, P.1
Francisco, M.2
Haya, S.3
|