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Type 1 von Willebrand disease: application of emerging data to clinical practice

Data up to Jan 2025

Published2008
Citations27
References40

Total Citations Per Year

Abstract

References (40)

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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)

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Assay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decreased VWF survival

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Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD

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Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD

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Cysteine-mutations in von Willebrand factor associated with increased clearance

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Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease

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Genetic linkage and association analysis in type 1 von Willebrand disease: results from the Canadian Type 1 VWD Study

2006 • 81 citations

Dimerization and multimerization defects of von Willebrand factor due to mutated cysteine residues

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Type 1 von Willebrand disease — a clinical retrospective study of the diagnosis, the influence of the ABO blood group and the role of the bleeding history

2000 • 69 citations

Increased clearance of von Willebrand factor antigen post-DDAVP in Type 1 von Willebrand disease: is it a potential pathogenic process?

2003 • 64 citations

Impact of plasma von Willebrand factor levels in the diagnosis of type 1 von Willebrand disease: results from a multicenter European study (MCMDM‐1VWD)

2007 • 62 citations

Challenges in defining type 2M von Willebrand disease: results from a Canadian cohort study

2007 • 50 citations

Identification of Type 2 von Willebrand Disease in Previously Diagnosed Type 1 Patients: a Reappraisal Using Phenotypes, Genotypes and Molecular Modelling

2000 • 48 citations

Response of von Willebrand Factor Parameters to Desmopressin in Patients with Type 1 and Type 2 Congenital von Willebrand Disease: Diagnostic and Therapeutic Implications

2002 • 45 citations

Survival of von Willebrand factor released following DDAVP in a type 1 von Willebrand disease cohort: Influence of glycosylation, proteolysis and gene mutations

2008 • 45 citations

von Willebrand factor: evidence for variable clearance in vivo according to Y/C1584 phenotype and ABO blood group

2008 • 44 citations

Effect of von Willebrand factor Y/C1584 on in vivo protein level and function and interaction with ABO blood group

2006 • 43 citations

Insights into von Willebrand factor proteolysis: clinical implications

2006 • 43 citations

Significant linkage and non‐linkage of type 1 von Willebrand disease to the von Willebrand factor gene

2001 • 35 citations

Molecular Genetics of Type 2 von Willebrand Disease

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The prevalence of the cysteine1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: co‐segregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype

2005 • 31 citations

Genetic analysis of 31 Swedish type 1 von Willebrand disease families reveals incomplete linkage to the von Willebrand factor gene and a high frequency of a certain disease haplotype

2005 • 26 citations

Inherited and de novo von Willebrand disease ‘Vicenza’ in UK families with the R1205H mutation: diagnostic pitfalls and new insights

2006 • 13 citations

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