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

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes.

1993 • 685 citations

Reduced von Willebrand factor survival in type Vicenza von Willebrand disease

2002 • 161 citations

Family studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable number tandem repeat region of the von Willebrand factor gene

1990 • 160 citations

An Experimental Model to Study the in Vivo Survival of von Willebrand Factor

2004 • 159 citations

von Willebrand disease "Vicenza" with larger-than-normal (supranormal) von Willebrand factor multimers

1988 • 125 citations

An update on conformation sensitive gel electrophoresis

2002 • 104 citations

Characterization of the von Willebrand Factor Gene (VWF) in von Willebrand Disease Type III Patients from 24 Families of Swedish and Finnish Origin

1994 • 92 citations

Von Willebrand Disease Type 2M “Vicenza” in Italian and German Patients: Identification of the First Candidate Mutation (G3864A; R1205H) in 8 Families

2000 • 82 citations

Tetranucleotide repeat polymorphism in the vWF gene

1990 • 76 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

Analysis of the complexity of the multimeric structure of factor VIII related antigen/von Willebrand protein using a modified electrophoretic technique.

1983 • 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

Aberrant dimerization of von Willebrand factor as the result of mutations in the carboxy-terminal region: identification of 3 mutations in members of 3 different families with type 2A (phenotype IID) von Willebrand disease

2001 • 33 citations

Factor VIII and von Willebrand factor changes after desmopressin and during pregnancy in type 2M von Willebrand disease Vicenza: a prospective study comparing patients with single (R1205H) and double (R1205H‐M740I) defect

2006 • 33 citations

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

Identifying type Vicenza von Willebrand disease

2006 • 28 citations

Increased Clearance Explains the Ultra-Large Multimers in Von Willebrand Disease Type 2M Vicenza; Lessons from Recombinant VWF Vicenza and Modeling of Multimer Catabolism.

2004 • 6 citations