-
1
-
-
20144387640
-
The prevalence of the cysteine 1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: Co-segregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype
-
Bowen, D.J., Collins, P.W., Lester, W., Cumming, A.M., Keeney, S., Grundy, P., Enayat, S.M., Bolton-Maggs, P.H., Keeling, D.M., Khair, K., Tait, R.C., Wilde, J.T., Pasi, K.J. & Hill, F.G. (2005) The prevalence of the cysteine 1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: co-segregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype. British Journal of Haematology, 128, 830-836.
-
(2005)
British Journal of Haematology
, vol.128
, pp. 830-836
-
-
Bowen, D.J.1
Collins, P.W.2
Lester, W.3
Cumming, A.M.4
Keeney, S.5
Grundy, P.6
Enayat, S.M.7
Bolton-Maggs, P.H.8
Keeling, D.M.9
Khair, K.10
Tait, R.C.11
Wilde, J.T.12
Pasi, K.J.13
Hill, F.G.14
-
2
-
-
1242338729
-
Increased clearance of von Willebrand factor antigen post-DDAVP in Type 1 von Willebrand disease: Is it a potential pathogenic process?
-
Brown, S.A., Eldridge, A., Collins, P.W. & Bowen, D.J. (2003) Increased clearance of von Willebrand factor antigen post-DDAVP in Type 1 von Willebrand disease: is it a potential pathogenic process? Journal of Thrombosis and Haemostasis, 1, 1714-1717.
-
(2003)
Journal of Thrombosis and Haemostasis
, vol.1
, pp. 1714-1717
-
-
Brown, S.A.1
Eldridge, A.2
Collins, P.W.3
Bowen, D.J.4
-
3
-
-
25744447375
-
Detection the 3614G>A (R1205H) mutation in the VWF gene in 26 Spanish patients with high penetrance dominant type 1 von Willebrand disease
-
abstr
-
Casaña, P., Haya, S., Espinós, C., Cid, A.R. & Aznar, J.A. (2003) Detection the 3614G>A (R1205H) mutation in the VWF gene in 26 Spanish patients with high penetrance dominant type 1 von Willebrand disease. Journal of Thrombosis and Haemostasis, 1 (Suppl.), P0104 (abstr).
-
(2003)
Journal of Thrombosis and Haemostasis
, vol.1
, Issue.SUPPL.
-
-
Casaña, P.1
Haya, S.2
Espinós, C.3
Cid, A.R.4
Aznar, J.A.5
-
4
-
-
0036095699
-
Reduced von Willebrand factor survival in type Vicenza von Willebrand disease
-
Casonato, A., Pontara, E., Sartorello, F., Cattini, M.G., Sartori, M.T., Padrini, R. & Girolami, A. (2002) Reduced von Willebrand factor survival in type Vicenza von Willebrand disease. Blood, 99, 180-184.
-
(2002)
Blood
, vol.99
, pp. 180-184
-
-
Casonato, A.1
Pontara, E.2
Sartorello, F.3
Cattini, M.G.4
Sartori, M.T.5
Padrini, R.6
Girolami, A.7
-
5
-
-
31944432453
-
Identifying type Vicenza von Willebrand disease
-
Casonato, A., Pontara, E., Sartorello, F., Cattini, M.G., Gallinaro, L., Bertomoro, A., Rosato, A., Padrini, R. & Pagnan, A. (2006) Identifying type Vicenza von Willebrand disease. Journal of Laboratory and Clinical Medicine, 147, 96-102.
-
(2006)
Journal of Laboratory and Clinical Medicine
, vol.147
, pp. 96-102
-
-
Casonato, A.1
Pontara, E.2
Sartorello, F.3
Cattini, M.G.4
Gallinaro, L.5
Bertomoro, A.6
Rosato, A.7
Padrini, R.8
Pagnan, A.9
-
6
-
-
0033865397
-
An additional unique candidate mutation (G2470A; M740I) in the original families with von Willebrand disease type 2 M Vicenza and the G3864A (R1205H) mutation
-
Castaman, G., Missiaglia, E., Federici, A.B., Schneppenheim, R. & Rodeghiero, F. (2000) An additional unique candidate mutation (G2470A; M740I) in the original families with von Willebrand disease type 2 M Vicenza and the G3864A (R1205H) mutation. Thrombosis and Haemostasis, 84, 350-351.
-
(2000)
Thrombosis and Haemostasis
, vol.84
, pp. 350-351
-
-
Castaman, G.1
Missiaglia, E.2
Federici, A.B.3
Schneppenheim, R.4
Rodeghiero, F.5
-
7
-
-
0036624746
-
The elusive pathogenesis of von Willebrand disease Vicenza
-
Castaman, G., Rodeghiero, F. & Mannucci, P.M. (2002) The elusive pathogenesis of von Willebrand disease Vicenza. Blood, 99, 4243-4244.
-
(2002)
Blood
, vol.99
, pp. 4243-4244
-
-
Castaman, G.1
Rodeghiero, F.2
Mannucci, P.M.3
-
8
-
-
33645559083
-
Factor VIII and von Willebrand factor changes after desmopressin and during pregnancy in type 2M von Willebrand disease Vicenza: A prospective study comparing patients with single (R1205H) and double (R1205H-M740I) defect
-
Castaman, G., Federici, A.B., Bernardi, M., Moroni, B., Bertoncello, K. & Rodeghiero, F. (2006) Factor VIII and von Willebrand factor changes after desmopressin and during pregnancy in type 2M von Willebrand disease Vicenza: a prospective study comparing patients with single (R1205H) and double (R1205H-M740I) defect. Journal of Thrombosis and Haemostasis, 4, 357-360.
-
(2006)
Journal of Thrombosis and Haemostasis
, vol.4
, pp. 357-360
-
-
Castaman, G.1
Federici, A.B.2
Bernardi, M.3
Moroni, B.4
Bertoncello, K.5
Rodeghiero, F.6
-
9
-
-
0020643427
-
Analysis of the complexity of the multimeric structure of factor VIII related antigen/von Willebrand protein using a modified electrophoretic technique
-
Enayat, M.S. & Hill, F.G. (1983) Analysis of the complexity of the multimeric structure of factor VIII related antigen/von Willebrand protein using a modified electrophoretic technique. Journal of Clinical Pathology, 36, 915-919.
-
(1983)
Journal of Clinical Pathology
, vol.36
, pp. 915-919
-
-
Enayat, M.S.1
Hill, F.G.2
-
10
-
-
0035437166
-
Aberrant dimerization of von Willebrand Factor as the result of mutations in the carboxyl-terminal region: Identification of three mutations in members of three different families with type 2A (phenotype IID) von Willebrand Disease
-
Enayat, M.S., Guilliatt, A.M., Surdhar, G.K., Jenkins, P.V., Pasi, K.P., Toh, C.H., Williams, M.D. & Hill, F.G.H. (2001) Aberrant dimerization of von Willebrand Factor as the result of mutations in the carboxyl-terminal region: identification of three mutations in members of three different families with type 2A (phenotype IID) von Willebrand Disease. Blood, 98, 674-680.
-
(2001)
Blood
, vol.98
, pp. 674-680
-
-
Enayat, M.S.1
Guilliatt, A.M.2
Surdhar, G.K.3
Jenkins, P.V.4
Pasi, K.P.5
Toh, C.H.6
Williams, M.D.7
Hill, F.G.H.8
-
11
-
-
33748345935
-
Seven novel candidate mutations in exon 27 and 28 of von Willebrand gene in patients with type1, type 2M and unclassified von Willebrand disease
-
abstr
-
Enayat, M.S., Guilliatt A.M., Surdhar, G.K., Jones, N., Wilde, J.T., Chalmers, E.A., Tait, R.C., Strevens, M.J., Williams, M.D. & Hill, F.G.H. (2005) Seven novel candidate mutations in exon 27 and 28 of von Willebrand gene in patients with type1, type 2M and unclassified von Willebrand disease. British Journal of Haematology, 129 (Suppl. 1), P141 (abstr).
-
(2005)
British Journal of Haematology
, vol.129
, Issue.1 SUPPL.
-
-
Enayat, M.S.1
Guilliatt, A.M.2
Surdhar, G.K.3
Jones, N.4
Wilde, J.T.5
Chalmers, E.A.6
Tait, R.C.7
Strevens, M.J.8
Williams, M.D.9
Hill, F.G.H.10
-
12
-
-
0036199856
-
An update on conformation sensitive gel electrophoresis
-
Ganguly, A. (2002) An update on conformation sensitive gel electrophoresis. Human Mutation, 19, 334-342.
-
(2002)
Human Mutation
, vol.19
, pp. 334-342
-
-
Ganguly, A.1
-
13
-
-
0027433113
-
Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
-
Ganguly, A., Rock, M.J. & Prockop, D.J. (1993) Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proceedings of the National Academy of Sciences of the United States of America, 90, 10325-10329.
-
(1993)
Proceedings of the National Academy of Sciences of the United States of America
, vol.90
, pp. 10325-10329
-
-
Ganguly, A.1
Rock, M.J.2
Prockop, D.J.3
-
14
-
-
28344437575
-
Increased clearance explains the ultra-large multimers in von Willebrand disease type 2M Vicenza; lessons from recombinant VWF Vicenza and modeling of multimer catabolism
-
abstr
-
Gézsi, A., Balázsi, G., Sallai, K., Mohl, A., Nagy, E., Szabó, T., Sadler, J.E. & Bodó, I. (2004) Increased clearance explains the ultra-large multimers in von Willebrand disease type 2M Vicenza; lessons from recombinant VWF Vicenza and modeling of multimer catabolism. Blood, 104, P3669 (abstr).
-
(2004)
Blood
, vol.104
-
-
Gézsi, A.1
Balázsi, G.2
Sallai, K.3
Mohl, A.4
Nagy, E.5
Szabó, T.6
Sadler, J.E.7
Bodó, I.8
-
15
-
-
1842530336
-
An experimental model to study the in vivo survival of von Willebrand factor. Basic aspects and application to the R1205H mutation
-
Lenting, P.J., Westein, E., Terraube, V., Ribba, A.S., Huizinga, E.G., Meyer, D., de Groot, P.G. & Denis, C.V. (2004) An experimental model to study the in vivo survival of von Willebrand factor. Basic aspects and application to the R1205H mutation. Journal of Biological Chemistry, 279, 12102-12109.
-
(2004)
Journal of Biological Chemistry
, vol.279
, pp. 12102-12109
-
-
Lenting, P.J.1
Westein, E.2
Terraube, V.3
Ribba, A.S.4
Huizinga, E.G.5
Meyer, D.6
De Groot, P.G.7
Denis, C.V.8
-
16
-
-
0023852791
-
Von Willebrand disease "Vicenza" with larger-than-normal (supranormal) von Willebrand factor multimers
-
Mannucci, P.M., Lombardi, R., Castaman, G., Dent, J.A., Lattuada, A., Rodeghiero, F. & Zimmerman, T.S. (1988) von Willebrand disease "Vicenza" with larger-than-normal (supranormal) von Willebrand factor multimers. Blood, 71, 65-70.
-
(1988)
Blood
, vol.71
, pp. 65-70
-
-
Mannucci, P.M.1
Lombardi, R.2
Castaman, G.3
Dent, J.A.4
Lattuada, A.5
Rodeghiero, F.6
Zimmerman, T.S.7
-
17
-
-
0034532364
-
Identification of type 2 von Willebrand disease in previously diagnosed type 1 patients: A reappraisal using phenotypes, genotypes and molecular modeling
-
Nitu-Whalley, N., Riddell, A., Lee, C.A., Pasi, K.J., Owens, D., Enayat, M.S., Perkins, S.J. & Jenkins, P.V. (2000) Identification of type 2 von Willebrand disease in previously diagnosed type 1 patients: a reappraisal using phenotypes, genotypes and molecular modeling. Thrombosis and Haemostasis, 84, 998-1004.
-
(2000)
Thrombosis and Haemostasis
, vol.84
, pp. 998-1004
-
-
Nitu-Whalley, N.1
Riddell, A.2
Lee, C.A.3
Pasi, K.J.4
Owens, D.5
Enayat, M.S.6
Perkins, S.J.7
Jenkins, P.V.8
-
18
-
-
0025183086
-
Family studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable number tandem repeat region of the von Willebrand factor gene
-
Peake, I.R., Bowen, D., Bignell, P., Liddell, M.B., Sadler, J.E., Standen, G. & Bloom, A.L. (1990) Family studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable number tandem repeat region of the von Willebrand factor gene. Blood, 76, 555-561.
-
(1990)
Blood
, vol.76
, pp. 555-561
-
-
Peake, I.R.1
Bowen, D.2
Bignell, P.3
Liddell, M.B.4
Sadler, J.E.5
Standen, G.6
Bloom, A.L.7
-
20
-
-
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, A.B., Budde, U., Castaman, G., Drewke, E., Krey, S., Mannucci, P.M., Riesen, G., Rodeghiero, F., Zieger, B. & Zimmermann, R. (2000) Von Willebrand Disease type 2M "Vicenza" in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families. Thrombosis and Haemostasis, 83, 136-140.
-
(2000)
Thrombosis and Haemostasis
, vol.83
, pp. 136-140
-
-
Schneppenheim, R.1
Federici, A.B.2
Budde, U.3
Castaman, G.4
Drewke, E.5
Krey, S.6
Mannucci, P.M.7
Riesen, G.8
Rodeghiero, F.9
Zieger, B.10
Zimmermann, R.11
-
21
-
-
25744469809
-
Von Willebrand disease Vicenza with mutation R1205H of von Willebrand factor (VWF): Study of 18 French patients and of recombinant VWF
-
15th XVIIIth Congress (abstr)
-
Veyradier, A., Dakik, O., Lavergne, J.M., Ribba, A.S., Girma, J.P., Hilbert, L., Mazurier, C., Fressinaud, E., Meyer, D., and the INSERM network. (2001) Von Willebrand disease Vicenza with mutation R1205H of von Willebrand factor (VWF): study of 18 French patients and of recombinant VWF. Thrombosis and Haemostasis, (15th XVIIIth Congress) (Suppl.), P1799 (abstr).
-
(2001)
Thrombosis and Haemostasis
, Issue.SUPPL.
-
-
Veyradier, A.1
Dakik, O.2
Lavergne, J.M.3
Ribba, A.S.4
Girma, J.P.5
Hilbert, L.6
Mazurier, C.7
Fressinaud, E.8
Meyer, D.9
-
22
-
-
0028321794
-
Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin
-
Zhang, Z.P., Blomback, M., Egberg, N., Falk, G. & Anvret, M. (1994) Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin. Genomics, 21, 188-193.
-
(1994)
Genomics
, vol.21
, pp. 188-193
-
-
Zhang, Z.P.1
Blomback, M.2
Egberg, N.3
Falk, G.4
Anvret, M.5
|