-
1
-
-
0036588833
-
von Willebrand disease: Still an intriguing disorder in the era of molecular medicine
-
Rodeghiero F. von Willebrand disease: still an intriguing disorder in the era of molecular medicine. Haemophilia 2002; 8: 292-300.
-
(2002)
Haemophilia
, vol.8
, pp. 292-300
-
-
Rodeghiero, F.1
-
2
-
-
0028201807
-
A revised classification of von Willebrand disease
-
For the Subcommittee on von Willebrand factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis
-
Sadler JE. A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 1994; 71: 520-5.
-
(1994)
Thromb Haemost
, vol.71
, pp. 520-525
-
-
Sadler, J.E.1
-
3
-
-
0023164845
-
Epidemiological investigation of the prevalence of von Willebrand's disease
-
Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand's disease. Blood 1997; 69: 454-9.
-
(1997)
Blood
, vol.69
, pp. 454-459
-
-
Rodeghiero, F.1
Castaman, G.2
Dini, E.3
-
4
-
-
0027458101
-
Prevalence of von Willebrand disease in children: A multiethnic study
-
Werner EJ, Broxson EH, Tucker EL, et al. Prevalence of von Willebrand disease in children: A multiethnic study. J Pediatr 1993; 123: 893-8.
-
(1993)
J Pediatr
, vol.123
, pp. 893-898
-
-
Werner, E.J.1
Broxson, E.H.2
Tucker., E.L.3
-
5
-
-
0031029879
-
Reviews in molecular medicine: Von Willebrand disease
-
Nichols WC, Ginsburg D. Reviews in molecular medicine: von Willebrand disease. Medicine 1997; 76: 1-20.
-
(1997)
Medicine
, vol.76
, pp. 1-20
-
-
Nichols, W.C.1
Ginsburg, D.2
-
6
-
-
0018779080
-
Genetics of classic von Willebrand's disease. I. Phenotypic variation within families
-
Miller CH, Graham JB, Goldin LR, et al. Genetics of classic von Willebrand's disease. I. Phenotypic variation within families. Blood 1979; 54: 117-45.
-
(1979)
Blood
, vol.54
, pp. 117-145
-
-
Miller, C.H.1
Graham, J.B.2
Goldin, L.R.3
-
7
-
-
0032823229
-
Inconsistency of association between type 1 von Willebrand disease phenotype and genotype in families identified in an epidemiological investigation
-
Castaman G, Eikenboom JCJ, Bertina RM, et al. Inconsistency of association between type 1 von Willebrand disease phenotype and genotype in families identified in an epidemiological investigation. Thromb Haemost 1999; 82: 1065-70.
-
(1999)
Thromb Haemost
, vol.82
, pp. 1065-1070
-
-
Castaman, G.1
Eikenboom, J.C.J.2
Bertina, R.M.3
-
8
-
-
0035676504
-
Significant linkage and non-linkage of type 1 von Willebrand disease to the von Willebrand factor gene
-
Casana P, Martinez F, Haya S, et al. Significant linkage and non-linkage of type 1 von Willebrand disease to the von Willebrand factor gene. Br J Haematol 2001; 115: 692-700.
-
(2001)
Br J Haematol
, vol.115
, pp. 692-700
-
-
Casana, P.1
Martinez, F.2
Haya, S.3
-
9
-
-
29244478621
-
Genetic analysis of 31 Swedish type 1 von Willebrand disease families reveals incomplete linkage to the von Willebrand factor gene and a high frequency of a certain disease haplotype
-
Lanke E, Johansson AM, Hallden C, et al. Genetic analysis of 31 Swedish type 1 von Willebrand disease families reveals incomplete linkage to the von Willebrand factor gene and a high frequency of a certain disease haplotype. J Thromb Haemost 2005; 3: 2656-63.
-
(2005)
J Thromb Haemost
, vol.3
, pp. 2656-2663
-
-
Lanke, E.1
Johansson, A.M.2
Hallden, C.3
-
10
-
-
33644979514
-
Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD
-
Eikenboom J, van Marion V, Putter H, et al. Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD. J Thromb Haemost 2006; 4: 774-82.
-
(2006)
J Thromb Haemost
, vol.4
, pp. 774-782
-
-
Eikenboom, J.1
van Marion, V.2
Putter, H.3
-
11
-
-
33644984651
-
Genetic linkage and association analysis in type 1 von Willebrand disease: Results from the Canadian Type 1 VWD Study
-
James PD, Paterson AD, Notley C, et al. Genetic linkage and association analysis in type 1 von Willebrand disease: results from the Canadian Type 1 VWD Study. J Thromb Haemost 2006; 4: 783-92.
-
(2006)
J Thromb Haemost
, vol.4
, pp. 783-792
-
-
James, P.D.1
Paterson, A.D.2
Notley, C.3
-
12
-
-
23044515558
-
Provisional criteria for the diagnosis of VWD type 1
-
on behalf of the ISTHSSC Subcommittee on von Willebrand Factor
-
Sadler JE, Rodeghiero F, on behalf of the ISTHSSC Subcommittee on von Willebrand Factor. Provisional criteria for the diagnosis of VWD type 1. J Thromb Haemost 2005; 3: 775-7.
-
(2005)
J Thromb Haemost
, vol.3
, pp. 775-777
-
-
Sadler, J.E.1
Rodeghiero, F.2
-
13
-
-
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
-
14
-
-
13244262641
-
Slippery criteria for von Willebrand disease type 1
-
Sadler JE. Slippery criteria for von Willebrand disease type 1. J Thromb Haemost 2004; 2: 1720-3.
-
(2004)
J Thromb Haemost
, vol.2
, pp. 1720-1723
-
-
Sadler, J.E.1
-
15
-
-
0034924905
-
Getting at the variable expressivity of von Willebrand disease
-
Levy G, Ginsburg D. Getting at the variable expressivity of von Willebrand disease. Thromb Haemost 2001; 86: 144-8.
-
(2001)
Thromb Haemost
, vol.86
, pp. 144-148
-
-
Levy, G.1
Ginsburg, D.2
-
16
-
-
33645551596
-
Genetic influences on fibrinogen, tissue plasminogen activator-antigen and von Willebrand factor in males and females
-
De Lange M, de Geus EJ, Kluft C, et al. Genetic influences on fibrinogen, tissue plasminogen activator-antigen and von Willebrand factor in males and females. Thromb Haemost 2006; 95: 414-9.
-
(2006)
Thromb Haemost
, vol.95
, pp. 414-419
-
-
De Lange, M.1
de Geus, E.J.2
Kluft, C.3
-
17
-
-
0021951144
-
Factor VIII and factor IX in a twin population. Evidence for a major effect of ABO locus on factor VIII level
-
Orstavik KH, Magnus P, Reisner H, et al. Factor VIII and factor IX in a twin population. Evidence for a major effect of ABO locus on factor VIII level. Am J Hum Genet 1985; 37: 89-101.
-
(1985)
Am J Hum Genet
, vol.37
, pp. 89-101
-
-
Orstavik, K.H.1
Magnus, P.2
Reisner, H.3
-
18
-
-
0023257218
-
The effect of ABO blood group on the diagnosis of von Willebrand disease
-
Gill JC, Endres-Brooks J, Bauer PJ, et al. The effect of ABO 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
-
19
-
-
0034783234
-
The molecular biology of von Willebrand disease
-
Keeney S, Cumming AM. The molecular biology of von Willebrand disease. Clin Lab Haem 2001; 23: 209-30.
-
(2001)
Clin Lab Haem
, vol.23
, pp. 209-230
-
-
Keeney, S.1
Cumming, A.M.2
-
20
-
-
2342656365
-
The diagnosis of von Willebrand disease: A guideline from the UK Haemophilia Centre Doctors' Organisation
-
Laffan M, Brown SA, Collins PW, et al. The diagnosis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organisation. Haemophilia 2004; 10: 199-217.
-
(2004)
Haemophilia
, vol.10
, pp. 199-217
-
-
Laffan, M.1
Brown, S.A.2
Collins, P.W.3
-
21
-
-
0034537373
-
Ristocetin cofactor and collagen binding activities normalized to antigen levels for a rapid diagnosis of type 2 von Willebrand disease Single center comparison of four different assays
-
Federici AB, Canciani MT, Forza I, et al. Ristocetin cofactor and collagen binding activities normalized to antigen levels for a rapid diagnosis of type 2 von Willebrand disease. Single center comparison of four different assays. Thromb Haemost 2000; 84: 1127-8.
-
(2000)
Thromb Haemost
, vol.84
, pp. 1127-1128
-
-
Federici, A.B.1
Canciani, M.T.2
Forza, I.3
-
22
-
-
0020643427
-
Analysis of the complexity of the multimeric structure of factor VIII-related antigen/von Willebrand protein using a modified electrophoretic technique
-
Enayat MS, Hill FGH. Analysis of the complexity of the multimeric structure of factor VIII-related antigen/von Willebrand protein using a modified electrophoretic technique. J Clin Pathol 1983; 36: 915-9.
-
(1983)
J Clin Pathol
, vol.36
, pp. 915-919
-
-
Enayat, M.S.1
Hill, F.G.H.2
-
23
-
-
0024331438
-
Structure of the gene for human von Willebrand factor
-
Mancuso DJ, Tuley EA, Westfield LA, et al. Structure of the gene for human von Willebrand factor. J Biol Chem 1989; 264: 19514-27.
-
(1989)
J Biol Chem
, vol.264
, pp. 19514-19527
-
-
Mancuso, D.J.1
Tuley, E.A.2
Westfield, L.A.3
-
24
-
-
0022536764
-
Specific-primer-directed DNA sequencing
-
Strauss EC, Kobori JA, Siu G, et al. Specific-primer-directed DNA sequencing. Anal Biochem 1986; 154: 353-60.
-
(1986)
Anal Biochem
, vol.154
, pp. 353-360
-
-
Strauss, E.C.1
Kobori, J.A.2
Siu, G.3
-
25
-
-
0032528315
-
Automated detection of point mutations using fluorescent sequence trace subtraction
-
Bonfield JK, Rada C, Staden R. Automated detection of point mutations using fluorescent sequence trace subtraction. Nucleic Acids Res 1998; 26: 3404-9.
-
(1998)
Nucleic Acids Res
, vol.26
, pp. 3404-3409
-
-
Bonfield, J.K.1
Rada, C.2
Staden, R.3
-
26
-
-
0029101406
-
Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF
-
Hilbert L, Gaucher C, Mazurier C. Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF. Blood 1995; 86: 1010-8.
-
(1995)
Blood
, vol.86
, pp. 1010-1018
-
-
Hilbert, L.1
Gaucher, C.2
Mazurier, C.3
-
27
-
-
0028913947
-
611→His) in type I "platelet discordant" von Willebrand's disease with desmopressin-induced thrombocytopenia
-
611→His) in type I "platelet discordant" von Willebrand's disease with desmopressin-induced thrombocytopenia. Br J Haematol 1995; 89: 656-8.
-
(1995)
Br J Haematol
, vol.89
, pp. 656-658
-
-
Castaman, G.1
Eikenboom, J.C.J.2
Rodeghiero, F.3
-
28
-
-
0036624746
-
The elusive pathogenesis of von Willebrand disease Vicenza
-
Castaman G, Rodeghiero F, Mannucci PM. The elusive pathogenesis of von Willebrand disease Vicenza. Blood 2002; 99: 4243-4.
-
(2002)
Blood
, vol.99
, pp. 4243-4244
-
-
Castaman, G.1
Rodeghiero, F.2
Mannucci, P.M.3
-
29
-
-
0033865397
-
An additional unique candidate mutation (G2470A; M740I) in the original families with von Willebrand disease type 2M Vicenza and the G3864A (R1205H) mutation
-
Castaman G, Missiaglia E, Federici AB, et al. An additional unique candidate mutation (G2470A; M740I) in the original families with von Willebrand disease type 2M Vicenza and the G3864A (R1205H) mutation. Thromb Haemost 2000; 84: 350-1.
-
(2000)
Thromb Haemost
, vol.84
, pp. 350-351
-
-
Castaman, G.1
Missiaglia, E.2
Federici, A.B.3
-
30
-
-
0033971892
-
Von Willebrand disease type 2M "Vicenza" in Italian and German patients: Identification of the first candidate mutation (G3864A; 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 (G3864A; R1205H) in 8 families. Thromb Haemost 2000; 82: 136-40.
-
(2000)
Thromb Haemost
, vol.82
, pp. 136-140
-
-
Schneppenheim, R.1
Federici, A.B.2
Budde, U.3
-
31
-
-
0037624499
-
Molecular defects in type 3 von Willebrand disease: Updated results from 40 multiethnic patients
-
Baronciani L, Cozzi G, Canciani MT, et al. Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients. Blood Cells Mol Dis 2003; 30: 264-70.
-
(2003)
Blood Cells Mol Dis
, vol.30
, pp. 264-270
-
-
Baronciani, L.1
Cozzi, G.2
Canciani, M.T.3
-
32
-
-
20144387640
-
The prevalence of the cysteine1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: Cosegregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype
-
Bowen DJ, Collins PW, Lester W, et al. The prevalence of the cysteine1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: cosegregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype. Br J Haematol 2005; 128: 830-6.
-
(2005)
Br J Haematol
, vol.128
, pp. 830-836
-
-
Bowen, D.J.1
Collins, P.W.2
Lester, W.3
-
33
-
-
1642581706
-
An amino acid polymorphism in von Willebrand factor correlates with increased susceptibility to proteolysis by ADAMTS13
-
Bowen DJ, Collins PW. An amino acid polymorphism in von Willebrand factor correlates with increased susceptibility to proteolysis by ADAMTS13. Blood 2004; 103: 941-7.
-
(2004)
Blood
, vol.103
, pp. 941-947
-
-
Bowen, D.J.1
Collins, P.W.2
-
34
-
-
0141707691
-
An influence of ABO blood group on the rate of proteolysis of von Willebrand factor by ADAMTS13
-
Bowen DJ. An influence of ABO blood group on the rate of proteolysis of von Willebrand factor by ADAMTS13. J Thromb Haemost 2003; 1: 3 3-40.
-
(2003)
J Thromb Haemost
, vol.1
, pp. 33-40
-
-
Bowen, D.J.1
-
35
-
-
0038156292
-
Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease
-
O'Brien LA, James PD, Othman M, et al. Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease. Blood 2003; 102: 549-57.
-
(2003)
Blood
, vol.102
, pp. 549-557
-
-
O'Brien, L.A.1
James, P.D.2
Othman, M.3
-
36
-
-
0037328171
-
Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity
-
Hilbert L, Jorieux S, Proulle V, et al. Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity. Br J Haematol 2003; 120: 627-32.
-
(2003)
Br J Haematol
, vol.120
, pp. 627-632
-
-
Hilbert, L.1
Jorieux, S.2
Proulle, V.3
-
37
-
-
33751255639
-
Effect of the R924Q von Willebrand factor substitution on the expression of the von Willebrand disease phenotype
-
Abstract 307
-
Berber E, James PD, Leggo J, et al. Effect of the R924Q von Willebrand factor substitution on the expression of the von Willebrand disease phenotype. Blood 2003; 102: Abstract 307.
-
(2003)
Blood
, vol.102
-
-
Berber, E.1
James, P.D.2
Leggo, J.3
-
39
-
-
0035892101
-
Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: A possible general mechanism for dominant mutations of oligomeric proteins
-
Bódo I, Katsumi A, Tuley EA, et al. Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins. Blood 2001; 98: 2973-9.
-
(2001)
Blood
, vol.98
, pp. 2973-2979
-
-
Bódo, I.1
Katsumi, A.2
Tuley, E.A.3
-
40
-
-
33846026307
-
The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study
-
Blood first edition paper, prepublished online August 10, doi:10.1182 /blood-2006-05-021105
-
James PD, Notley C, Hegadorn C, et al. The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study. Blood first edition paper, prepublished online August 10, 2006; doi:10.1182/ blood-2006-05-021105.
-
(2006)
-
-
James, P.D.1
Notley, C.2
Hegadorn, C.3
-
41
-
-
0033564853
-
Variation at the von Willebrand factor (vWF) gene locus is associated with plasma vWF:Ag levels: Identification of three novel single nucleotide polymorphisms in the vWF gene promoter
-
Keightley AM, Lam YM, Brady JN, et al. Variation at the von Willebrand factor (vWF) gene locus is associated with plasma vWF:Ag levels: identification of three novel single nucleotide polymorphisms in the vWF gene promoter. Blood 1999; 93: 4277-83.
-
(1999)
Blood
, vol.93
, pp. 4277-4283
-
-
Keightley, A.M.1
Lam, Y.M.2
Brady, J.N.3
-
42
-
-
33751237631
-
The haplotype structure of the von Willebrand factor (VWF) gene promoter indicates balancing selection
-
Abstract P1466
-
Johansson AM, Säll T, Lethagen S, et al. The haplotype structure of the von Willebrand factor (VWF) gene promoter indicates balancing selection. J Thromb Haemost 2005; 3 (Suppl 1): Abstract P1466.
-
(2005)
J Thromb Haemost
, vol.3
, Issue.SUPPL. 1
-
-
Johansson, A.M.1
Säll, T.2
Lethagen, S.3
-
43
-
-
4944264978
-
An association of candidate gene haplotypes and bleeding severity in von Willebrand disease (VWD) type 1 pedigrees
-
Kunicki TJ, Federici AB, Salomon DR, et al. An association of candidate gene haplotypes and bleeding severity in von Willebrand disease (VWD) type 1 pedigrees. Blood 2004; 140: 2359-67.
-
(2004)
Blood
, vol.140
, pp. 2359-2367
-
-
Kunicki, T.J.1
Federici, A.B.2
Salomon, D.R.3
-
44
-
-
0033137301
-
1 levels in type 1 von Willebrand disease correlate with impaired platelet function in a high shear stress system
-
1 levels in type 1 von Willebrand disease correlate with impaired platelet function in a high shear stress system. Blood 1999; 93: 3578-82.
-
(1999)
Blood
, vol.93
, pp. 3578-3582
-
-
Di Paola, J.1
Federici, A.B.2
Mannucci, P.M.3
|