Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients

AB Federici, PM Mannucci, G Castaman… - Blood, The Journal …, 2009 - ashpublications.org
Type 2B von Willebrand disease (VWD2B) is caused by an abnormal von Willebrand factor
(VWF) with increased affinity for the platelet receptor glycoprotein Ib-α (GPIb-α) that may …

[HTML][HTML] Different bleeding risk in type 2A and 2M von Willebrand disease: a 2‐year prospective study in 107 patients

G Castaman, AB Federici, A Tosetto, S La Marca… - Journal of Thrombosis …, 2012 - Elsevier
Background: Type 2A and 2M von Willebrand disease (VWD2A and VWD2M) are
characterized by the presence of a dysfunctional von Willebrand factor (VWF) and a variable …

[HTML][HTML] The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles

M Bowman, A Tuttle, C Notley, C Brown, S Tinlin… - Journal of Thrombosis …, 2013 - Elsevier
Summary Background Type 3 von Willebrand disease (VWD) is the most severe form of the
disease and is classically inherited in an autosomal recessive fashion. Objectives The aim of …

How I treat type 2B von Willebrand disease

R Kruse-Jarres, JM Johnsen - Blood, The Journal of the …, 2018 - ashpublications.org
Type 2B von Willebrand disease (VWD) is an inherited bleeding disorder caused by
changes in von Willebrand factor (VWF) that enhance binding of VWF to GPIb on platelets …

[HTML][HTML] von Willebrand factor mutation promotes thrombocytopathy by inhibiting integrin αIIbβ3

C Casari, E Berrou, M Lebret, F Adam… - The Journal of …, 2013 - Am Soc Clin Investig
von Willebrand disease type 2B (vWD-type 2B) is characterized by gain-of-function
mutations in von Willebrand factor (vWF) that enhance its binding to the glycoprotein Ib-IX-V …

Phenotypic identification of platelet-type von Willebrand disease and its discrimination from type 2B von Willebrand disease: a question of 2B or not 2B? A story of …

EJ Favaloro - Seminars in thrombosis and hemostasis, 2008 - thieme-connect.com
Platelet-type von Willebrand disease (PT-VWD) and type 2B von Willebrand disease (2B-
VWD) have different etiologies although both present with a similar clinical bleeding and …

An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease

A Cumming, P Grundy, S Keeney… - Thrombosis and …, 2006 - thieme-connect.com
Forty families diagnosed by UK centres to have type 1 VWD were recruited. Following
review, six families were re-diagnosed to have type 2 VWD, one to have a platelet storage …

The international society on thrombosis and haematosis von Willebrand disease database: an update

DJ Hampshire, AC Goodeve - Seminars in thrombosis and …, 2011 - thieme-connect.com
The online locus-specific database for von Willebrand disease (VWFdb) acts as a repository
for sequence variant data and associated resources for those with an interest in the disorder …

[HTML][HTML] Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study

J Eikenboom, L Hilbert, AS Ribba, A Hommais… - Journal of Thrombosis …, 2009 - Elsevier
Summary Background: Candidate von Willebrand factor (VWF) mutations were identified in
70% of index cases in the European study 'Molecular and Clinical Markers for the Diagnosis …

The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study

PD James, C Notley, C Hegadorn, J Leggo, A Tuttle… - Blood, 2007 - ashpublications.org
In order to evaluate the changes within the VWF gene that might contribute to the
pathogenesis of type 1 von Willebrand disease (VWD), a large multicenter Canadian study …