Associated Papers
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
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
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
Predicting the effects of single pathological mutations in hemophilia A and type 2N von Willebrand diseases using AlphaFold2-multimer and AlphaFold3.
Zhang Z et al.
The Journal of Pharmacology and Experimental Therapeutics, 2025
Challenges and considerations of genetic testing in von Willebrand disease.
Seidizadeh O et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Application of genetic testing for the diagnosis of von Willebrand disease.
Seidizadeh O et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
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 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
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
Von Willebrand factor and disease: a review for laboratory professionals.
Harris NS et al.
Critical Reviews in Clinical Laboratory Sciences, 2022
A novel mouse model of type 2N VWD was developed by CRISPR/Cas9 gene editing and recapitulates human type 2N VWD.
Shi Q et al.
Blood Advances, 2022
Molecular study of a large cohort of 109 haemophilia patients from Cuba using a gene panel with next generation sequencing-based technology.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 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
Molecular determinants of the factor VIII/von Willebrand factor complex revealed by BIVV001 cryo-electron microscopy.
Fuller JR et al.
Blood, 2021
Von Willebrand disease type 2N: An update.
Seidizadeh O et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Activated factor VIII-mimicking effect by emicizumab on thrombus formation in type 2N von Willebrand disease under high shear flow conditions.
Yaoi H et al.
Thrombosis Research, 2021
Investigation of discordant phenotype in mild Hemophilia A using whole exome sequencing.
Cygan PH et al.
Thrombosis Research, 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
Evaluation of clinical severity in patients with type 2N von Willebrand disease using microchip-based flow-chamber system.
Nakajima Y et al.
International Journal of Hematology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Interaction Between the a3 Region of Factor VIII and the TIL'E' Domains of the von Willebrand Factor.
Dagil L et al.
Biophysical Journal, 2019
The von Willebrand factor D'D3 assembly and structural principles for factor VIII binding and concatemer biogenesis.
Dong X et al.
Blood, 2019
Type 2N von Willebrand disease: Characterization and diagnostic difficulties.
Casonato A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 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
Abnormal von Willebrand factor secretion, factor VIII stabilization and thrombus dynamics in type 2N von Willebrand disease mice.
Swystun LL et al.
Journal of Thrombosis and Haemostasis : Jth, 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
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
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
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Diagnosis of inherited von Willebrand disease: comparison of two methodologies and analysis of the discrepancies.
Costa-Pinto J et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014
Similarity in joint and mucous bleeding syndromes in type 2N von Willebrand disease and severe hemophilia A coexisting with type 1 von Willebrand disease in two Chinese pedigrees.
Qin HH et al.
Blood Cells, Molecules & Diseases, 2014
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
Translational medicine advances in von Willebrand disease.
Lillicrap D
Journal of Thrombosis and Haemostasis : Jth, 2013
Weibel-Palade bodies: a window to von Willebrand disease.
Valentijn KM et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
The molecular characterization of von Willebrand disease: good in parts.
James PD et al.
British Journal of Haematology, 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
The molecular genetics of von Willebrand disease.
Berber E
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2012
von Willebrand disease: clinical and laboratory lessons learned from the large von Willebrand disease studies.
James PD et al.
American Journal of Hematology, 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
Variation in the VWF gene in Swedish patients with type 1 von Willebrand Disease.
Johansson AM et al.
Annals of Human Genetics, 2011
von Willebrand disease.
James PD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
Advances in the diagnosis and management of type 1 von Willebrand disease.
Castaman G et al.
Expert Review of Hematology, 2011