Associated Papers
Challenges and considerations of genetic testing in von Willebrand disease.
Seidizadeh O et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Genetic variants in VWF exon 26 and their implications for type 1 Von Willebrand disease in a Saudi Arabian population.
Alzahrani FM et al.
Open Life Sciences, 2025
The search for the underlying mutations causing VWD in 13 Venezuelan families.
Marchi R et al.
Thrombosis Research, 2024
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.
Seidizadeh O et al.
Npj Genomic Medicine, 2023
Identification of von Willebrand factor D4 domain mutations in patients of Afro-Caribbean descent: In vitro characterization.
Dubois MD et al.
Research and Practice in Thrombosis and Haemostasis, 2022
Von Willebrand disease type Vicenza: In search of a classification for the archetype of reduced von Willebrand factor survival.
Casonato A et al.
Ejhaem, 2021
Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
Pagliari MT et al.
Plos One, 2021
A Combination of Two Variants p. (Val510 =) and p. (Pro2145Thrfs * 5), Responsible for von Willebrand Disease Type 3 in a Caribbean Patient.
Dubois MD et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2020
Phenotypic and Genotypic Characterization of von Willebrand Factor Gene (Exon 18 and 20) in Saudi Healthy Individuals.
Alzahrani FM et al.
Medical Archives (sarajevo, Bosnia and Herzegovina), 2020
Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives.
Zolkova J et al.
Seminars in Thrombosis and Hemostasis, 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
Unraveling the Influence of Common von Willebrand factor variants on von Willebrand Disease Phenotype: An Exploratory Study on the Molecular and Clinical Profile of von Willebrand Disease in Spain Cohort.
Borràs N et al.
Thrombosis and Haemostasis, 2020
The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3.
Yadegari H et al.
Hamostaseologie, 2020
Genetic variants of VWF gene in type 2 von Willebrand disease.
Freitas SDS et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
Evaluation of the Utility of von Willebrand Factor Propeptide in the Differential Diagnosis of von Willebrand Disease and Acquired von Willebrand Syndrome.
Stufano F et al.
Seminars in Thrombosis and Hemostasis, 2019
Standardization and comparison of nonautomated assays to measure the collagen binding activity of von Willebrand factor.
Oliveira LMM et al.
International Journal of Laboratory Hematology, 2018
Advances in the diagnosis and treatment of Von Willebrand disease.
Sharma R et al.
Blood, 2017
Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease.
Casonato A et al.
Plos One, 2016
Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project.
Johnsen JM et al.
Blood, 2013
The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.
Bowman M et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.
Wang QY et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
Von Willebrand disease: pathogenesis and management.
Rodeghiero F
Thrombosis Research, 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
VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.
Bellissimo DB et al.
Blood, 2012
Pathologic mechanisms of type 1 VWD mutations R1205H and Y1584C through in vitro and in vivo mouse models.
Pruss CM et al.
Blood, 2011
Nomenclature of genetic variants in hemostasis.
Goodeve AC et al.
Journal of Thrombosis and Haemostasis : Jth, 2011
Pregnancy and delivery in women with von Willebrand's disease and different von Willebrand factor mutations.
Castaman G et al.
Haematologica, 2010
Accelerated clearance alone explains ultra-large multimers in von Willebrand disease Vicenza.
Gézsi A et al.
Journal of Thrombosis and Haemostasis : Jth, 2010
Vicenza deciphered: modeling the von Willebrand disease enigma: commentary on accelerated clearance alone explains ultralarge multimers in VWD Vicenza.
Goodeve AC
Journal of Thrombosis and Haemostasis : Jth, 2010
Genetic testing for von Willebrand disease: the case against.
Favaloro EJ
Journal of Thrombosis and Haemostasis : Jth, 2010
Reduced von Willebrand factor survival in von Willebrand disease: pathophysiologic and clinical relevance.
Castaman G et al.
Journal of Thrombosis and Haemostasis : Jth, 2009
Laboratory testing for von Willebrand disease: toward a mechanism-based classification.
Torres R et al.
Clinics in Laboratory Medicine, 2009
Clinical and laboratory versus molecular markers for a correct classification of von Willebrand disease.
Federici AB et al.
Haematologica, 2009
Laboratory diagnosis and molecular classification of von Willebrand disease.
Gadisseur A et al.
Acta Haematologica, 2009
Laboratory diagnosis of von Willebrand disease type 1/2E (2A subtype IIE), type 1 Vicenza and mild type 1 caused by mutations in the D3, D4, B1-B3 and C1-C2 domains of the von Willebrand factor gene. Role of von Willebrand factor multimers and the von Willebrand factor propeptide/antigen ratio.
Gadisseur A et al.
Acta Haematologica, 2009
Von Willebrand factor propeptide makes it easy to identify the shorter Von Willebrand factor survival in patients with type 1 and type Vicenza von Willebrand disease.
Sztukowska M et al.
British Journal of Haematology, 2008
Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD).
Haberichter SL et al.
Blood, 2008
Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD).
Budde U et al.
Journal of Thrombosis and Haemostasis : Jth, 2008
Clinical use of Haemate P in inherited von Willebrand's disease: a cohort study on 100 Italian patients.
Federici AB et al.
Haematologica, 2007
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
Management of inherited von Willebrand disease in 2007.
Federici AB et al.
Annals of Medicine, 2007
Inherited and de novo von Willebrand disease 'Vicenza' in UK families with the R1205H mutation: diagnostic pitfalls and new insights.
Lester WA et al.
British Journal of Haematology, 2006
Von Willebrand's disease: a novel mutation, P1824H and the incidence of R1205H defect among families with dominant quantitative von Willebrand factor deficiency.
Casaña P et al.
Haematologica, 2006
Von Willebrand's disease: clinical management.
Federici AB et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2006
Genetic mutations in von Willebrand disease identified by DHPLC and DNA sequence analysis.
Kakela JK et al.
Molecular Genetics and Metabolism, 2006
Factor VIII and von Willebrand factor changes after desmopressin and during pregnancy in type 2M von Willebrand disease Vicenza: a prospective study comparing patients with single (R1205H) and double (R1205H-M740I) defect.
Castaman G et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
Identifying type Vicenza von Willebrand disease.
Casonato A et al.
The Journal of Laboratory and Clinical Medicine, 2006
Clinical diagnosis of von Willebrand disease.
Federici AB
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2004
Fainting induces an acute increase in the concentration of plasma factor VIII and von Willebrand factor.
Casonato A et al.
Haematologica, 2003