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Showing 1 to 8 of 8 for “"von Willebrand disease (VWD)"”.
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Determination of ADAMTS13 Susceptibility in Type IIA von Willebrand Disease
<p>von Willebrand Disease (vWD) is a bleeding disorder caused by a deficiency in von Willebrand Factor (vWF), a large glycoprotein that assists in coagulation. Specifically, large vWF multimers in the blood stream are key components in starting the coagulation cascade. vWF is cleaved by the …
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Genetic characterization of families with von Willebrand disease
von Willebrand disease (VWD) is the most common hereditary bleeding disorder. It is caused by quantitative and/or qualitative defects of the von Willebrand factor (VWF). The severity of the disease can vary considerably, as can the hereditary patterns. The variable phenotypes of VWD have given rise …
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Understanding the Role of von Willebrand Factor (VWF) in Angiogenesis and Angiodysplasia
von Willebrand factor (VWF) is a large multimeric glycoprotein essential for hemostasis, mediating platelet adhesion to sites of vascular injury and stabilizing coagulation factor VIII (FVIII) in circulation. Deficiency or dysfunction of VWF results in von Willebrand disease (VWD), the most common …
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Study of patients with suspected platelet-based bleeding disorders: a search for patients with a defect in the P2Y12 ADP receptor
… from 140 subjects diagnosed with mild type 1 von Willebrand Disease (VWD) from the EU MCMDM-1VWD study was sequenced in view of the similarity in bleeding phenotype of patients with type 1 VWD and mild platelet disorders and the fact that both conditions show incomplete penetrance consistent …
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Aberrant and Alternative Splicing of von Willebrand Factor
von Willebrand disease (VWD) is the most commonly inherited bleeding disorder in humans resulting from quantitative deficiencies or qualitative defects of von Willebrand factor (VWF). VWD can be caused by a variety of mutations throughout the VWF gene, the majority of which are missense changes. …
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Pathogenicity assessment of genetic variants in von Willebrand disease using quantitative, qualitative, and functional approaches
Von Willebrand disease (VWD) is the most common inherited bleeding disorder. It is defined by a deficiency or dysfunction of plasma von Willebrand factor (VWF), a glycoprotein with a multifaceted role in haemostasis. The majority of circulating VWF is synthesised and released by endothelial cells …
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PATHOPHYSIOLOGY OF VON WILLEBRAND FACTOR IN BLEEDING AND THROMBOSIS
von Willebrand factor (VWF) is a multimeric glycoprotein mainly known to be involved in primary hemostasis recruiting platelets at the site of damaged vessels and acting as factor VIII (FVIII) carrier. Quantitative or qualitative alteration of VWF protein is responsible for von Willebrand disease …
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VON WILLEBRAND DISEASE: NEW INSIGHTS INTO THE EPIDEMIOLOGY, PATHOPHYSIOLOGY AND GENOTYPE/PHENOTYPE CORRELATION
La malattia di von Willebrand (VWD) è il disturbo emorragico congenito più comune ed è dovuta a difetti quantitativi (VWD di tipo 1 e di tipo 3) o qualitativi (VWD di tipo 2) della glicoproteina fattore di von Willebrand (VWF). Questa tesi mirava a fornire nuove informazioni sull'epidemiologia, …