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Filtri: First Letter Of Last Name è M and Autore is Melazzini, Federica [Clear All Filters]
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia. Br J Haematol 2018;183(2):276-288.
. Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations. Haematologica 2011;96(3):417-23.
. Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation). Haematologica 2012;97(1):82-8.
. Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia. Haematologica 2016;
. Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Blood 2010;116(26):5832-7.
. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood 2011;117(24):6673-80.
. Mutations of RUNX1 in families with inherited thrombocytopenia. Am J Hematol 2017;92(6):E86-E88.
. A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene. Br J Haematol 2018;181(5):698-701.
. Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders. Blood 2014;124(6):e4-e10.
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