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Thrombosis and Haemostasis|May 6, 2006
Impaired dimerization of von Willebrand factor subunit due to mutation A2801D in the CK domain results in a recessive type 2A subtype IID von Willebrand diseaseAntoine Hommais, Alain Stépanian, Edith Fressinaud, et al.
British Journal of Haematology|February 18, 2003
Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacityLysiane Hilbert, Sylvie Jorieux, Valérie Proulle, et al.
The Journal of Biological Chemistry|April 12, 2002
Identification of the regulatory elements of the human von Willebrand factor for binding to platelet GPIb. Importance of structural integrity of the regions flanked by the CYS1272-CYS1458 disulfide bondTakayuki Nakayama, Tadashi Matsushita, Zhengyu Dong, et al.
British Journal of Haematology|February 18, 2003
A new mutation, S1285F, within the A1 loop of von Willebrand factor induces a conformational change in A1 loop with abnormal binding to platelet GPIb and botrocetin causing type 2M von Willebrand diseaseAlain Stepanian, Anne-Sophie Ribba, Jean-Maurice Lavergne, et al.
Haematologica|May 10, 2007
Mutational analysis of the von Willebrand factor gene in type 1 von Willebrand disease using conformation sensitive gel electrophoresis: a comparison of fluorescent and manual techniquesMohammad Hashemi Soteh, Ian R Peake, Luke Marsden, et al.
Blood|November 25, 2003
Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: results of a multicenter European studyAugusto B Federici, Claudine Mazurier, Erik Berntorp, et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis|April 12, 2006
Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiencyFlorence Quélin, Florence Mathonnet, Catherine Potentini-Esnault, et al.
British Journal of Haematology|August 27, 2010
The impact of bleeding history, von Willebrand factor and PFA-100(®) on the diagnosis of type 1 von Willebrand disease: results from the European study MCMDM-1VWDGiancarlo Castaman, Alberto Tosetto, Anne Goodeve, et al.
Blood|January 31, 2008
Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWDGiancarlo Castaman, Stefan Lethagen, Augusto B Federici, et al.
Blood|March 18, 2008
Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD)Sandra L Haberichter, Giancarlo Castaman, Ulrich Budde, et al.
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