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The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study.
In order to evaluate the changes within the VWF gene that might contribute to the pathogenesis of type 1 von Willebrand disease (VWD), a large multicenter Canadian study was undertaken. We presentExpand
Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease.
To date, no dominant mutation has been identified in a significant proportion of patients with type 1 von Willebrand disease (VWD). In this study, we examined 70 families as part of the Canadian TypeExpand
ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders
F . RODEGHIERO,* A . TOSETTO,* T . ABSH IRE , D . M . A R NO L D , B . COLLE R ,§ P . J AMES ,– C. NEUNER T** and D . L I LL ICRAP ON BEHALF OF THE I STH/SSC JOINT VWF AND PER INATAL/ PED IA TR I CExpand
Generation and validation of the Condensed MCMDM‐1VWD Bleeding Questionnaire for von Willebrand disease
Summary.  Background: Given the challenges involved in obtaining accurate bleeding histories, attempts at standardization have occurred and the value of quantifying hemorrhagic symptoms has beenExpand
Evaluation of the diagnostic utility for von Willebrand disease of a pediatric bleeding questionnaire
1 Warkentin TE, Greinacher A, Koster A, Lincoff AM. American College of Chest Physicians. Treatment and prevention of heparininduced thrombocytopenia: American College of Chest PhysiciansExpand
Quantitation of bleeding symptoms in children with von Willebrand disease: use of a standardized pediatric bleeding questionnaire
Summary.  Background: Excessive bruising and mucocutaneous bleeding are frequent presenting symptoms in childhood. A detailed bleeding history can distinguish children who may have an inheritedExpand
Aminoglycoside suppression of nonsense mutations in severe hemophilia.
Aminoglycoside antibiotics exhibit their bactericidal effect by interfering with normal ribosomal activity. In this pilot study, we have evaluated the effect of the aminoglycoside antibioticExpand
Rare bleeding disorders – bleeding assessment tools, laboratory aspects and phenotype and therapy of FXI deficiency
Rare bleeding disorders (RBDs) are inherited deficiencies of coagulation factors such as fibrinogen, factor (F) II, FV, FVII, combined FV+FVIII, FX, FXI and FXIII. These disorders usually have a lowExpand
The C-type lectin receptor CLEC4M binds, internalizes, and clears von Willebrand factor and contributes to the variation in plasma von Willebrand factor levels.
Genetic variation in or near the C-type lectin domain family 4 member M (CLEC4M) has been associated with plasma levels of von Willebrand factor (VWF) in healthy individuals. CLEC4M is a lectinExpand
The molecular characterization of von Willebrand disease: good in parts
Since the cloning of the gene that encodes von Willebrand factor (VWF), 27 years ago, significant progress has been made in our understanding of the molecular basis of the most common inheritedExpand
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