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
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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Type 2M/2A von Willebrand disease: a shared phenotype between type 2M and 2A.
Seidizadeh O et al.
Blood Advances, 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
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.
Seidizadeh O et al.
Npj Genomic Medicine, 2023
Rapid Genome Sequencing Diagnosis in Pediatric Patients with Liver Dysfunction.
Bonser D et al.
The Journal of Pediatrics, 2023
Reply to "Comment on: A comparative study in type 2 von Willebrand disease patients using four 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
Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Seidizadeh O et al.
Blood Advances, 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
Cryptogenic oozers and bruisers.
Smock KJ et al.
Hematology. American Society of Hematology. Education Program, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 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 a fully automated von Willebrand factor assay panel for the diagnosis of von Willebrand disease.
Stufano F et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2020
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
Combined effects of two mutations in von Willebrand disease 2M phenotype.
Woods AI et al.
Research and Practice in Thrombosis and Haemostasis, 2018
Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients.
Manderstedt E et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2018
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
Type 2B von Willebrand disease with or without large multimers: A distinction of the two sides of the disorder is long overdue.
Casonato A et al.
Plos One, 2017
von Willebrand disease type 1 mutation p.Arg1379Cys and the variant p.Ala1377Val synergistically determine a 2M phenotype in four Italian patients.
Pagliari MT et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016
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
Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease.
Casonato A et al.
Plos One, 2016
Higher and lower active circulating VWF levels: different facets of von Willebrand disease.
Casonato A et al.
British Journal of Haematology, 2015
p.P2063S: a neutral VWF variant masquerading as a mutation.
Hampshire DJ et al.
Annals of Hematology, 2014
New development in von Willebrand disease.
Castaman G
Current Opinion in Hematology, 2013
Cellular and molecular basis of von Willebrand disease: studies on blood outgrowth endothelial cells.
Starke RD et al.
Blood, 2013
Variation in the VWF gene in Swedish patients with type 1 von Willebrand Disease.
Johansson AM et al.
Annals of Human Genetics, 2011
Advances in the diagnosis and management of type 1 von Willebrand disease.
Castaman G et al.
Expert Review of Hematology, 2011
Reduced survival of type 2B von Willebrand factor, irrespective of large multimer representation or thrombocytopenia.
Casonato A et al.
Haematologica, 2010
Genetic testing for von Willebrand disease: the case against.
Favaloro EJ
Journal of Thrombosis and Haemostasis : Jth, 2010
Contribution of genetical analysis for diagnosis of von Willebrand's disease type 2B.
Victor M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009
Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene.
Corrales I et al.
Thrombosis and Haemostasis, 2009
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
Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).
Goodeve A et al.
Blood, 2007
New mutations in exon 28 of the von Willebrand factor gene detected in patients with different types of von Willebrand's disease.
Casaña P et al.
Haematologica, 2001
Von Willebrand disease type 2B with a novel mutation in the VWF gene.
Jeraiby MA et al.
Annals of Saudi Medicine, 0