Search Results - "Perry, Crystal L."
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Von Willebrand Factor (VWF) multiplex activity assay differentiation of type 1 von Willebrand Disease (VWD) and variant VWD
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01-01-2024)“…Introduction VWD diagnosis is challenging requiring multiple VWF activity tests using many individual assays. We have developed an ELISA‐based VWF Multiplex…”
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Prevalence and characterization of anti-VWF antibodies in a population of patients with type 3 VWD
Published in Blood advances (08-10-2024)“…•Multiassay strategy was developed to screen, quantify, and characterize neutralizing and nonneutralizing VWF antibodies in VWD plasma.•The prevalence of IgG…”
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Characterization of copy-number variants in a large cohort of patients with von Willebrand disease reveals a relationship between disrupted regions and disease type
Published in Research and practice in thrombosis and haemostasis (01-10-2023)“…Genetic analysis for von Willebrand disease (VWD) commonly utilizes DNA sequencing to identify variants in the von Willebrand factor (VWF) gene; however, this…”
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A novel mouse model of type 2N VWD was developed by CRISPR/Cas9 gene editing and recapitulates human type 2N VWD
Published in Blood advances (10-05-2022)“…Type 2N von Willebrand disease is caused by mutations in the factor VIII (FVIII) binding site of von Willebrand factor (VWF), resulting in dysfunctional VWF…”
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Characterization of CNVs in a Large Cohort of VWD Patients Reveals Relationship between Disrupted Regions, Clinical Variables and Disease Type
Published in Blood (15-11-2022)Get full text
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Molecular pathogenesis and heterogeneity in type 3 VWD families in U.S. Zimmerman program
Published in Journal of thrombosis and haemostasis (01-07-2022)“…Background Type 3 von Willebrand Disease (VWD) is a rare and severe form of VWD characterized by the absence of von Willebrand factor (VWF). Objectives As part…”
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Genotype-Phenotype Relationship and the Role of Alloantibodies in Type 3 VWD in the Zimmerman Program
Published in Blood (08-12-2017)“…Type 3 von Willebrand Disease (VWD) is the rarest and most severe form of VWD and is characterized by the complete absence of von Willebrand factor (VWF)…”
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Characterization and Expression of an In-Frame Exon 33-34 Deletion Causing Type 1 VWD
Published in Blood (06-12-2014)“…Introduction: In recent years, the role of copy number variation (CNV) in the pathogenesis of type 1 von Willebrand disease (VWD) has been extensively…”
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Factor VIII Inhibitors: Von Willebrand Factor Makes A Difference In Vitroand In Vivo
Published in Blood (19-11-2010)“…Abstract 709 The important association between von Willebrand factor (VWF) and factor VIII (FVIII) has been investigated for decades, but the effect of VWF on…”
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Factor VIII Inhibitors: Von Willebrand Factor Makes A Difference In Vitro and In Vivo
Published in Blood (19-11-2010)“…Abstract Abstract 709 The important association between von Willebrand factor (VWF) and factor VIII (FVIII) has been investigated for decades, but the effect…”
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