Identificazione dei meccanismi responsabili del difetto della funzione piastrinica e della ridotta megacariocitopoiesi in una nuova variante di macrotrombocitopenia ereditaria di Glanzmann (D673-E712del)

Pubblicazioni Scientifiche

• 2019-01-02 EXPERT REVIEW OF HEMATOLOGY

  Platelet function assays in diagnosis: an update

• 2016-01-01 HAEMATOLOGICA

  Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia

• 2018-06-03 HAEMATOLOGICA

  A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations

• 2018-05-01 INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY

  Laboratory diagnosis of clinically relevant platelet function disorders

• 2012-04-23 PLOS ONE

  Outside-In Signalling Generated by a Constitutively Activated Integrin αIIbβ3 Impairs Proplatelet Formation in Human Megakaryocytes

• 2016-04-01 SEMINARS IN THROMBOSIS AND HEMOSTASIS

  Inherited Platelet Function Disorders: Algorithms for Phenotypic and Genetic Investigation