Associated Papers
Genetic determinants of clinical variability in type 2 von Willebrand disease: bridging genotype and phenotype.
Seidizadeh O et al.
Haematologica, 2026
Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort.
Yadegari H et al.
Thrombosis and Haemostasis, 2026
Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.
Seidizadeh O et al.
Scientific Reports, 2026
Von Willebrand disease: classification and epidemiology.
Castaman G et al.
Haematologica, 2026
Clinical utility of panel-based genetic sequencing for von Willebrand disease.
Ramanan R et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Challenges and considerations of genetic testing in von Willebrand disease.
Seidizadeh O et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Genetic variations of type 2 and type 3 von Willebrand diseases in Thailand.
Lauhasurayotin S et al.
Journal of Clinical Pathology, 2024
Application of genetic testing for the diagnosis of von Willebrand disease.
Seidizadeh O et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Variant mapping using mass spectrometry-based proteotyping as a diagnostic tool in von Willebrand disease.
Kreft IC et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Type 2M/2A von Willebrand disease: a shared phenotype between type 2M and 2A.
Seidizadeh O et al.
Blood Advances, 2024
A comparative study in patients with type 2 von Willebrand disease using 4 different platelet-dependent von Willebrand factor assays.
Colpani P et al.
Research and Practice in Thrombosis and Haemostasis, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Analysis of von Willebrand Disease in the "Heart of Europe".
Vangenechten I et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2022
Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease.
Atiq F et al.
Blood Advances, 2022
Structures of VWF tubules before and after concatemerization reveal a mechanism of disulfide bond exchange.
Anderson JR et al.
Blood, 2022
Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Seidizadeh O et al.
Blood Advances, 2022
Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease.
Lapić I et al.
Croatian Medical Journal, 2022
Von Willebrand disease type 2M: Correlation between genotype and phenotype: Reply to comment from Dr. Favaloro and to comment from Dr. Woods et al.
Maas DPMSM et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
Von Willebrand disease type 2M: Correlation between genotype and phenotype.
Maas DPMSM et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
Laboratory variability in the diagnosis of type 2 VWD variants.
DiGiandomenico S et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Improving diagnosis of von Willebrand disease: Reference ranges for von Willebrand factor multimer distribution.
Vangenechten I et al.
Research and Practice in Thrombosis and Haemostasis, 2020
Evaluation of a semi-automated von Willebrand factor multimer assay, the Hydragel 5 von Willebrand multimer, by two European Centers.
Bowyer AE et al.
Research and Practice in Thrombosis and Haemostasis, 2018
The elusive and heterogeneous pattern of type 2M von Willebrand disease: A diagnostic challenge.
Casonato A et al.
European Journal of Haematology, 2018
Comparison of an automated chemiluminescent assay to a manual ELISA assay for determination of von Willebrand Factor collagen binding activity on VWD plasma patients previously diagnosed through molecular analysis of VWF.
Jousselme E et al.
International Journal of Laboratory Hematology, 2018
Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.
Pérez-Rodríguez A et al.
Plos One, 2018
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.
Borràs N et al.
Haematologica, 2017
Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L.
Berber E et al.
Blood Transfusion = Trasfusione Del Sangue, 2017
Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test.
Michiels JJ et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2017
Molecular and clinical profile of VWD in a large cohort of Chinese population: application of next generation sequencing and CNVplex® technique.
Liang Q et al.
Thrombosis and Haemostasis, 2017
The Von Willebrand Factor A1-Collagen III Interaction Is Independent of Conformation and Type 2 Von Willebrand Disease Phenotype.
Machha VR et al.
Journal of Molecular Biology, 2017
Diagnosing von Willebrand disease: genetic analysis.
Goodeve A
Hematology. American Society of Hematology. Education Program, 2016
Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS.
Fidalgo T et al.
Thrombosis and Haemostasis, 2016
Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease.
Casonato A et al.
Plos One, 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
Structural origins of misfolding propensity in the platelet adhesive von Willebrand factor A1 domain.
Zimmermann MT et al.
Biophysical Journal, 2015
The spectrum of mutations in Southern Spanish patients with von Willebrand disease.
Álvarez-Laderas I et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015
New insights into genotype and phenotype of VWD.
Flood VH
Hematology. American Society of Hematology. Education Program, 2014
Storage and secretion of naturally occurring von Willebrand factor A domain variants.
Groeneveld DJ et al.
British Journal of Haematology, 2014
Misfolding of vWF to pathologically disordered conformations impacts the severity of von Willebrand disease.
Tischer A et al.
Biophysical Journal, 2014