Associated Papers
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
Hou H et al.
Npj Genomic Medicine, 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
Challenges and considerations of genetic testing in von Willebrand disease.
Seidizadeh O et al.
Research and Practice in Thrombosis and Haemostasis, 2025
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
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
Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in Phenotype.
Atiq F et al.
Hemasphere, 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
Diagnostic challenges in von Willebrand disease. Report of two cases with emphasis on multimeric and molecular analysis.
Moreno-Castaño AB et al.
Platelets, 2021
Variants p.Pro2063Ser and p.Arg324* co-segregate in type 3 von Willebrand disease patients from Southern Brazil.
Ornaghi AP et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.
Preisler B et al.
Journal of Clinical Medicine, 2021
Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
Pagliari MT et al.
Plos One, 2021
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
The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3.
Yadegari H et al.
Hamostaseologie, 2020
Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.
Angural A et al.
Frontiers in Genetics, 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
Alteration in GPIIb/IIIa Binding of VWD-Associated von Willebrand Factor Variants with C-Terminal Missense Mutations.
König G et al.
Thrombosis and Haemostasis, 2019
Analysis of von Willebrand Disease in the South Moravian Population (Czech Republic): Results from the BRNO-VWD Study.
Vangenechten I et al.
Thrombosis and Haemostasis, 2019
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
Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels.
Lavin M et al.
Blood, 2017
Whole-exome sequencing in evaluation of patients with venous thromboembolism.
Lee EJ et al.
Blood Advances, 2017
Group association test using a hidden Markov model.
Cheng Y et al.
Biostatistics (oxford, England), 2016
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Stavropoulos DJ et al.
Npj Genomic Medicine, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Evaluation of von Willebrand factor phenotypes and genotypes in Hemophilia A patients with and without identified F8 mutations.
Boylan B et al.
Journal of Thrombosis and Haemostasis : Jth, 2015
p.P2063S: a neutral VWF variant masquerading as a mutation.
Hampshire DJ et al.
Annals of Hematology, 2014
A variational Bayes discrete mixture test for rare variant association.
Logsdon BA et al.
Genetic Epidemiology, 2014
A common founder mutation p.P2063S in exon 36 of VWF in 11 unrelated Indian von Willebrand disease (VWD) families.
Kasatkar P et al.
Annals of Hematology, 2013
Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.
Hampshire DJ et al.
Thrombosis and Haemostasis, 2013
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
Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis.
Lotta LA 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
VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.
Bellissimo DB et al.
Blood, 2012
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
Type 1 von Willebrand disease due to reduced von Willebrand factor synthesis and/or survival: observations from a case series.
Casonato A et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2010
Genetic testing for von Willebrand disease: the case against.
Favaloro EJ
Journal of Thrombosis and Haemostasis : Jth, 2010
Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study.
Eikenboom J et al.
Journal of Thrombosis and Haemostasis : Jth, 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
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
C1584 in von Willebrand factor is necessary for enhanced proteolysis by ADAMTS13 in vitro.
Keeney S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 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