Associated Papers
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
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
Von Willebrand disease type 2M: Correlation between genotype and phenotype: Reply to comment from Dr. Favaloro and to comment from Dr. Woods et al.
Maas DPMSM et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
Von Willebrand disease type 2M: Correlation between genotype and phenotype.
Maas DPMSM et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
Type 2A and 2M von Willebrand Disease: Differences in Phenotypic Parameters According to the Affected Domain by Disease-Causing Variants and Assessment of Pathophysiological Mechanisms.
Woods AI et al.
Seminars in Thrombosis and Hemostasis, 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
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Combined effects of two mutations in von Willebrand disease 2M phenotype.
Woods AI et al.
Research and Practice in 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
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
von Willebrand factor collagen binding assay with a commercial kit using type III collagen in von Willebrand disease type 2.
Veyradier A et al.
Journal of Thrombosis and Haemostasis : Jth, 2007
Molecular genetics of type 2 von Willebrand disease.
Fressinaud E et al.
International Journal of Hematology, 2002
Molecular genetics of von Willebrand disease.
Mazurier C et al.
Annales De Genetique, 1998