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
Phenotypic and genotypic (exon 28) characterization of patients diagnosed with von Willebrand disease type 1 in Eastern Saudi Arabia.
Alzahrani FM et al.
Journal of Medicine and Life, 2023
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
Characterization of VWF gene conversions causing von Willebrand disease.
Ahmad F et al.
British Journal of Haematology, 2019
Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients.
Kasatkar P et al.
Plos One, 2014
Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.
Chuzhanova N et al.
Human Mutation, 2009
Contribution of genetical analysis for diagnosis of von Willebrand's disease type 2B.
Victor M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009
Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients.
Federici AB et al.
Blood, 2009
Prevalence of type 2b 'Malmö/New York' von Willebrand disease in Italy: the role of von Willebrand factor gene conversion.
Baronciani L et al.
Journal of Thrombosis and Haemostasis : Jth, 2008
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
Genetic mutations in von Willebrand disease identified by DHPLC and DNA sequence analysis.
Kakela JK et al.
Molecular Genetics and Metabolism, 2006
Gene conversions are a common cause of von Willebrand disease.
Gupta PK et al.
British Journal of Haematology, 2005
Multiple substitutions in the von Willebrand factor gene that mimic the pseudogene sequence.
Eikenboom JC et al.
Proceedings of the National Academy of Sciences of the United States of America, 1994
Recessive inheritance of von Willebrand's disease type I.
Eikenboom JC et al.
Lancet (london, England), 1993
Genetic defects in von Willebrand disease type 3 in Indian and Greek patients.
Gupta PK et al.
Blood Cells, Molecules & Diseases, 0