Associated Papers
Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.
Seidizadeh O et al.
Scientific Reports, 2026
Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Predicting the effects of single pathological mutations in hemophilia A and type 2N von Willebrand diseases using AlphaFold2-multimer and AlphaFold3.
Zhang Z et al.
The Journal of Pharmacology and Experimental Therapeutics, 2025
Application of genetic testing for the diagnosis of von Willebrand disease.
Seidizadeh O et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Periprocedural management of type 2N von Willebrand disease with efanesoctocog alfa.
Ryu JH et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.
Seidizadeh O et al.
Npj Genomic Medicine, 2023
Structural insights into blood coagulation factor VIII: Procoagulant complexes, membrane binding, and antibody inhibition.
Childers KC et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
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 factor and disease: a review for laboratory professionals.
Harris NS et al.
Critical Reviews in Clinical Laboratory Sciences, 2022
A novel mouse model of type 2N VWD was developed by CRISPR/Cas9 gene editing and recapitulates human type 2N VWD.
Shi Q et al.
Blood Advances, 2022
The genomic landscape of pediatric renal cell carcinomas.
Beck P et al.
Iscience, 2022
Type 2N VWD: Conclusions from the Spanish PCM-EVW-ES project.
Pérez-Rodríguez A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
Fibronectin binding to von Willebrand factor occurs via the A1 domain.
Keesler DA et al.
Research and Practice in Thrombosis and Haemostasis, 2021
Von Willebrand disease type 2N: An update.
Seidizadeh O et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Activated factor VIII-mimicking effect by emicizumab on thrombus formation in type 2N von Willebrand disease under high shear flow conditions.
Yaoi H et al.
Thrombosis Research, 2021
Investigation of discordant phenotype in mild Hemophilia A using whole exome sequencing.
Cygan PH et al.
Thrombosis Research, 2020
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
Evaluation of clinical severity in patients with type 2N von Willebrand disease using microchip-based flow-chamber system.
Nakajima Y et al.
International Journal of Hematology, 2020
The von Willebrand factor D'D3 assembly and structural principles for factor VIII binding and concatemer biogenesis.
Dong X et al.
Blood, 2019
Type 2N von Willebrand disease: Characterization and diagnostic difficulties.
Casonato A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018
A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.
Veyradier A et al.
Medicine, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.
Hampshire DJ et al.
Thrombosis and Haemostasis, 2013
Translational medicine advances in von Willebrand disease.
Lillicrap D
Journal of Thrombosis and Haemostasis : Jth, 2013
Weibel-Palade bodies: a window to von Willebrand disease.
Valentijn KM et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
The molecular characterization of von Willebrand disease: good in parts.
James PD et al.
British Journal of Haematology, 2013
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
von Willebrand disease: clinical and laboratory lessons learned from the large von Willebrand disease studies.
James PD et al.
American Journal of Hematology, 2012
Structure and function of von Willebrand factor.
Hassan MI et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2012
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
von Willebrand disease.
James PD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
A novel alanine or threonine 789 to proline mutation causing type 2N von Willebrand's disease when inherited homozygously or heterozygously with arginine 854 to glutamine mutation.
Enayat MS et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010
Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype.
Castaman G et al.
Journal of Thrombosis and Haemostasis : Jth, 2010
Genotype/phenotype association in von Willebrand disease: is the glass half full or empty?
Lillicrap D
Journal of Thrombosis and Haemostasis : Jth, 2009
Measurement of von Willebrand factor-FVIII binding activity in patients with suspected von Willebrand disease type 2N: application of an ELISA-based assay in a reference laboratory.
Zhukov O et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009
Intracellular cotrafficking of factor VIII and von Willebrand factor type 2N variants to storage organelles.
van den Biggelaar M et al.
Blood, 2009
Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1.
Michiels JJ et al.
Acta Haematologica, 2009
Management of inherited von Willebrand disease in 2007.
Federici AB et al.
Annals of 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
A practical approach to genetic testing for von Willebrand disease.
Pruthi RK
Mayo Clinic Proceedings, 2006
New insight into the molecular basis of hemophilia A.
Oldenburg J et al.
International Journal of Hematology, 2006
Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity.
Hilbert L et al.
British Journal of Haematology, 2003
Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment.
Castaman G et al.
Haematologica, 2003
Molecular genetics of type 2 von Willebrand disease.
Fressinaud E et al.
International Journal of Hematology, 2002
The molecular biology of von Willebrand disease.
Keeney S et al.
Clinical and Laboratory Haematology, 2001
Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor.
Allen S et al.
Blood, 2000
A common splice site mutation is shared by two families with different type 2N von Willebrand disease mutations.
Nesbitt IM et al.
Thrombosis and Haemostasis, 1999
Molecular genetics of von Willebrand disease.
Mazurier C et al.
Annales De Genetique, 1998