Associated Papers
Clinical utility of panel-based genetic sequencing for von Willebrand disease.
Ramanan R et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Mechano-covalent protection of coagulation factor VIII by von Willebrand factor.
Butera D et al.
Blood Advances, 2023
Laboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis.
Kalot MA et al.
Blood Advances, 2022
Von Willebrand disease type 2N: An update.
Seidizadeh O et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Molecular and clinical profile of type 2 von Willebrand disease in Iran: a thirteen-year experience.
Rassoulzadegan M et al.
International Journal of Hematology, 2020
Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses.
Kim HJ et al.
Annals of Laboratory Medicine, 2019
Abnormal von Willebrand factor secretion, factor VIII stabilization and thrombus dynamics in type 2N von Willebrand disease mice.
Swystun LL et al.
Journal of Thrombosis and Haemostasis : Jth, 2017
A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.
Casonato A et al.
Haematologica, 2013
Validation of the first commercial ELISA for type 2N von Willebrand's disease diagnosis.
Veyradier A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011
Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1.
Michiels JJ et al.
Acta Haematologica, 2009
Investigation of von Willebrand factor gene mutations in Korean von Willebrand disease patients.
Song J et al.
The Korean Journal of Laboratory Medicine, 2007
Classification and characterization of hereditary types 2A, 2B, 2C, 2D, 2E, 2M, 2N, and 2U (unclassifiable) von Willebrand disease.
Michiels JJ et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2006
Mutations C1157F and C1234W of von Willebrand factor cause intracellular retention with defective multimerization and secretion.
Hommais A et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene.
Hilbert L et al.
British Journal of Haematology, 2004
Type 2N von Willebrand disease mutations in Brazilian individuals.
Simon D et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2004
Large experience with a factor VIII binding assay of plasma von Willebrand factor using commercial reagents.
Caron C et al.
British Journal of Haematology, 2002
Molecular genetics of type 2 von Willebrand disease.
Fressinaud E et al.
International Journal of Hematology, 2002
Diagnosis and incidence of inherited von Willebrand disease.
Hambleton J
Current Opinion in Hematology, 2001
The molecular biology of von Willebrand disease.
Keeney S et al.
Clinical and Laboratory Haematology, 2001
Type 2N von Willebrand disease: rapid genetic diagnosis of G2811A (R854Q), C2696T (R816W), T2701A (H817Q) and G2823T (C858F)--detection of a novel candidate type 2N mutation: C2810T (R854W).
Bowen DJ et al.
Thrombosis and Haemostasis, 1998
Molecular genetics of von Willebrand disease.
Mazurier C et al.
Annales De Genetique, 1998