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
Clinical relevance of genetic variants in the von Willebrand factor according to in-silico methods.
Woods AI et al.
American Journal of Medical Genetics. Part A, 2024
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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.
Pankratz N et al.
Human Molecular Genetics, 2022
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
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
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
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Genetic Analysis of Patients With Sickle Cell Anemia and Stroke Before 4 Years of Age Suggest an Important Role for Apoliprotein E.
Brewin JN et al.
Circulation. Genomic and Precision Medicine, 2020
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
Factor VIII binding affects the mechanical unraveling of the A2 domain of von Willebrand factor.
Cao W et al.
Journal of Thrombosis and Haemostasis : Jth, 2020
Coagulation factor VIII: Relationship to cardiovascular disease risk and whole genome sequence and epigenome-wide analysis in African Americans.
Raffield LM et al.
Journal of Thrombosis and Haemostasis : Jth, 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 von Willebrand factor D'D3 assembly and structural principles for factor VIII binding and concatemer biogenesis.
Dong X et al.
Blood, 2019
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
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
Compromised shear-dependent cleavage of type 2N von Willebrand factor variants by ADAMTS13 in the presence of factor VIII.
Skipwith CG et al.
Thrombosis and Haemostasis, 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
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
VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.
Bellissimo DB et al.
Blood, 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 in the United States: a perspective from Wisconsin.
Flood VH et al.
Seminars in Thrombosis and Hemostasis, 2011
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
Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1.
Michiels JJ et al.
Acta Haematologica, 2009
[A case of type 2N von Willebrand disease with homozygous R816W mutation of the VWF gene in a Nepalese woman].
Lee SY et al.
The Korean Journal of Laboratory Medicine, 2008
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
Type 2N von Willebrand disease mutations in Brazilian individuals.
Simon D et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2004
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
Diagnosis and incidence of inherited von Willebrand disease.
Hambleton J
Current Opinion in Hematology, 2001
The molecular biology of von Willebrand disease.
Keeney S et al.
Clinical and Laboratory Haematology, 2001
Type 2N von Willebrand disease: rapid genetic diagnosis of G2811A (R854Q), C2696T (R816W), T2701A (H817Q) and G2823T (C858F)--detection of a novel candidate type 2N mutation: C2810T (R854W).
Bowen DJ et al.
Thrombosis and Haemostasis, 1998
Molecular genetics of von Willebrand disease.
Mazurier C et al.
Annales De Genetique, 1998