S. Barozzi

发表

Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells

C. Balduini, A. Pecci, M. Seri, 2011, Thrombosis and Haemostasis.

Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases

A. Savoia, V. Santini, A. Pecci, 2017, Journal of thrombosis and haemostasis : JTH.

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders.

P. Noris, F. Fabris, A. Savoia, 2014, Blood.

A NEW FORM OF INHERITED THROMBOCYTOPENIA CAUSED BY LOSS-OF-FUNCTION MUTATIONS IN PTPRJ

A. Balduini, P. Noris, N. Katsanis, 2018 .

Chaperone molecules concentrate together with the ubiquitin–proteasome system inside particulate cytoplasmic structures: possible role in metabolism of misfolded proteins

A. Vanoli, E. Solcia, A. Pecci, 2015, Histochemistry and Cell Biology.

Eltrombopag for the treatment of inherited thrombocytopenias: a phase II clinical trial

P. Noris, A. Bertomoro, F. Fabris, 2019, Haematologica.

Short-term eltrombopag for surgical preparation of a patient with inherited thrombocytopenia deriving from MYH9 mutation

C. Balduini, A. Pecci, S. D’amico, 2012, Thrombosis and Haemostasis.

Particulate cytoplasmic structures with high concentration of ubiquitin-proteasome accumulate in myeloid neoplasms

P. Noris, E. Solcia, A. Pecci, 2015, Journal of Hematology & Oncology.

Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim

A. Pastore, A. Savoia, C. Balduini, 2017, EMBO molecular medicine.

D. Zafeiriou, A. Savoia, M. Economou, 2012, Journal of pediatric hematology/oncology.

GP1BB c.179C > T is the most frequent cause of monoallelic Bernard–Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families

P. Noris, A. Savoia, A. Pecci, 2022, Annals of Hematology.

P. Noris, A. Savoia, S. Ryhänen, 2018, Hämostaseologie.

R705H mutation of MYH9 is associated with MYH9‐related disease and not only with non‐syndromic deafness DFNA17

A. Savoia, V. Topsakal, S. Ryhänen, 2015, Clinical genetics.

A. Pastore, P. Noris, A. Savoia, 2013, European journal of medical genetics.

Miniaturized 3D bone marrow tissue model to assess response to Thrombopoietin-receptor agonists in patients

D. Kaplan, A. Balduini, H. Raslova, 2021, eLife.

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

P. Noris, S. Perrotta, T. Pippucci, 2011, American journal of human genetics.

Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC.

A. Balduini, A. Pecci, M. Seri, 2020, Haematologica.

Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia.

A. Balduini, P. Noris, N. Katsanis, 2019, Blood.

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia

A. Balduini, P. Noris, T. Pippucci, 2016, Haematologica.

Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombocytopenia

A. Balduini, P. Noris, E. Solcia, 2012, Thrombosis and Haemostasis.

Eltrombopag in preparation for surgery in patients with severe MYH9‐related thrombocytopenia

P. Gresele, C. Balduini, A. Pecci, 2019, American journal of hematology.

A. Balduini, P. Noris, T. Pippucci, 2016, Thrombosis and Haemostasis.

A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly

P. Noris, A. Savoia, A. Pecci, 2021, International journal of molecular sciences.

Spontaneous splenic rupture due to extramedullary haematopoiesis in a patient with inherited thrombocytopenia Case report

D. Rahal, C. Lodigiani, A. Pecci, 2021 .

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup

P. Noris, T. Pippucci, A. Savoia, 2022, Haematologica.

Chaperone molecules concentrate together with the ubiquitin–proteasome system inside particulate cytoplasmic structures: possible role in metabolism of misfolded proteins

A. Vanoli, E. Solcia, A. Pecci, 2015, Histochemistry and Cell Biology.

A. Pastore, P. Noris, A. Savoia, 2013, European journal of medical genetics.

Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia.

A. Balduini, P. Noris, N. Katsanis, 2019, Blood.