Universitą degli studi di Pavia
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Boeri research activity
Hereditary Hemorrhagic Teleangectasia (HHT) or Rendu-Osler-Weber disease (ROW) (MIM ID 187300, 600376) has been the object of my research; it is an dominant autosomal disease characterized by nosebleeds, telangectasia and multiorgan vascular dysplasia.
Study of HHT affected families using different techniques: Sanger sequencing, linkage analysis with STR markers and MLPA (Multiple Ligation Probe-assay Amplification). Detection of a wide family with a large deletion and its molecular characterization. Research on hematological aspects: HHT patients have an increased frequency of mature endothelial cells in peripheral blood. Structural aspects: a 3D modeling of ALK1 ecto-domain
Study of HHT affected families using different techniques: Sanger sequencing, linkage analysis with STR markers and MLPA (Multiple Ligation Probe-assay Amplification). Detection of a wide family with a large deletion and its molecular characterization. Research on hematological aspects: HHT patients have an increased frequency of mature endothelial cells in peripheral blood. Structural aspects: a 3D modeling of ALK1 ecto-domain
