Associated Papers
Type 2M/2A von Willebrand disease: a shared phenotype between type 2M and 2A.
Seidizadeh O et al.
Blood Advances, 2024
Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Seidizadeh O et al.
Blood Advances, 2022
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Activated αIIbβ3 on platelets mediates flow-dependent NETosis via SLC44A2.
Constantinescu-Bercu A et al.
Elife, 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
Characterization of VWF gene conversions causing von Willebrand disease.
Ahmad F et al.
British Journal of Haematology, 2019
Enhanced Local Disorder in a Clinically Elusive von Willebrand Factor Provokes High-Affinity Platelet Clumping.
Tischer A et al.
Journal of Molecular Biology, 2017
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
Role of von Willebrand Factor--A1 Domain Variants P1266L, H1268D, C1272R, and C1272F in VWD: A Molecular Modeling and Simulation Analysis Approach.
Doss CG et al.
Advances in Protein Chemistry and Structural Biology, 2016
De novo mutation and somatic mosaicism of gene mutation in type 2A, 2B and 2M VWD.
Shen MC et al.
Thrombosis Journal, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease.
Ahmad F et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014
A molten globule intermediate of the von Willebrand factor A1 domain firmly tethers platelets under shear flow.
Tischer A et al.
Proteins, 2014
Structural basis of regulation of von Willebrand factor binding to glycoprotein Ib.
Blenner MA et al.
The Journal of Biological Chemistry, 2014
Characterisation of mutations and molecular studies of type 2 von Willebrand disease.
Ahmad F et al.
Thrombosis and Haemostasis, 2013
Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.
Jacobi PM et al.
Blood, 2012
C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance.
Woods AI et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.
Gadisseur A et al.
Acta Haematologica, 2009
Management of inherited von Willebrand disease in 2007.
Federici AB et al.
Annals of Medicine, 2007
C1272S: a new candidate mutation in type 2A von Willebrand disease that disrupts the disulfide loop responsible for the interaction of VWF with platelet GP Ib-IX.
Penas N et al.
American Journal of Hematology, 2004
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
Type 2B von Willebrand's disease due to Val1316Met mutation. Heterogeneity in the same sibship.
Rendal E et al.
Annals of Hematology, 2001
Molecular genetics of von Willebrand disease.
Mazurier C et al.
Annales De Genetique, 1998