Serena Barozzi

2022

Hearing outcomes in preterm infants with confirmed hearing loss

Aldè, M., Di Berardino, F., Ambrosetti, U., Barozzi, S., Piatti, G., Consonni, D., Zanetti, D., Pignataro, L. & Cantarella, G., Oct 2022, In: International Journal of Pediatric Otorhinolaryngology. 161, 111262.

Research output: Contribution to journal › Article › peer-review

2021

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

Barozzi, S., Bozzi, V., De Rocco, D., Giangregorio, T., Noris, P., Savoia, A. & Pecci, A., Oct 2021, In: International Journal of Molecular Sciences. 22, 19, 10190.

Research output: Contribution to journal › Article › peer-review

Open Access

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

Barozzi, S., Bozzi, V., De Rocco, D., Giangregorio, T., Noris, P., Savoia, A. & Pecci, A., 2021, In: International Journal of Molecular Sciences. 22, 19

Research output: Contribution to journal › Article › peer-review

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

Di Buduo, C. A., Laurent, P. A., Zaninetti, C., Lordier, L., Soprano, P. M., Ntai, A., Barozzi, S., La Spada, A., Biunno, I., Raslova, H., Bussel, J. B., Kaplan, D. L., Balduini, C. L., Pecci, A. & Balduini, A., Jun 1 2021, In: eLife. 10

Research output: Contribution to journal › Article › peer-review

Open Access

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

Barozzi, S., Di Buduo, C. A., Marconi, C., Bozzi, V., Seri, M., Romano, F., Balduini, A. & Pecci, A., 2021, In: Haematologica. 106, 3, p. 918-922 5 p.

Research output: Contribution to journal › Article › peer-review

Prevalence of Dysphonia in Non hospitalized Patients with COVID-19 in Lombardy, the Italian Epicenter of the Pandemic

Cantarella, G., Aldè, M., Consonni, D., Zuccotti, G., Berardino, F. D., Barozzi, S., Bertoli, S., Battezzati, A., Zanetti, D. & Pignataro, L., 2021, (Accepted/In press) In: Journal of Voice.

Research output: Contribution to journal › Article › peer-review

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

Zaninetti, C., Sacco, C., Rahal, D., Barozzi, S., Balduini, C. L., Lodigiani, C. & Pecci, A., May 2021, In: Blood Transfusion. 19, 3, p. 257-260 4 p.

Research output: Contribution to journal › Article › peer-review

2020

Drp1 overexpression induces desmin disassembling and drives kinesin-1 activation promoting mitochondrial trafficking in skeletal muscle: Cell Death and Differentiation

Giovarelli, M., Zecchini, S., Martini, E., Garrè, M., Barozzi, S., Ripolone, M., Napoli, L., Coazzoli, M., Vantaggiato, C., Roux-Biejat, P., Cervia, D., Moscheni, C., Perrotta, C., Parazzoli, D., Clementi, E. & De Palma, C., 2020, In: Cell Death Differ.. 27, 8, p. 2383-2401 19 p.

Research output: Contribution to journal › Article › peer-review

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

Zaninetti, C., Gresele, P., Bertomoro, A., Klersy, C., de Candia, E., Veneri, D., Barozzi, S., Fierro, T., Alberelli, M. A., Musella, V., Noris, P., Fabris, F., Balduini, C. L. & Pecci, A., Mar 1 2020, In: Haematologica. 105, 3, p. 820-828 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

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

Barozzi, S., Di Buduo, C. A., Marconi, C., Bozzi, V., Seri, M., Romano, F., Balduini, A. & Pecci, A., Sep 28 2020, In: Haematologica. Online ahead of print

Research output: Contribution to journal › Article › peer-review

Open Access

2019

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

Zaninetti, C., Barozzi, S., Bozzi, V., Gresele, P., Balduini, C. L. & Pecci, A., Jan 1 2019, In: American Journal of Hematology.

Research output: Contribution to journal › Letter › peer-review

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

Marconi, C., DI Buduo, C. A., LeVine, K., Barozzi, S., Faleschini, M., Bozzi, V., Palombo, F., McKinstry, S., Lassandro, G., Giordano, P., Noris, P., Balduini, C. L., Savoia, A., Balduini, A., Pippucci, T., Seri, M., Katsanis, N. & Pecci, A., 2019, In: Blood. 133, 12, p. 1346-1357 12 p.

Research output: Contribution to journal › Article › peer-review

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

Marconi, C., DI Buduo, C. A., LeVine, K., Barozzi, S., Faleschini, M., Bozzi, V., Palombo, F., McKinstry, S., Lassandro, G., Giordano, P., Noris, P., Balduini, C. L., Savoia, A., Balduini, A., Pippucci, T., Seri, M., Katsanis, N. & Pecci, A., 2019, In: Blood. 133, 12, p. 1346-1357 12 p.

Research output: Contribution to journal › Article › peer-review

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

Marconi, C., Di Buduo, C. A., LeVine, K., Barozzi, S., Faleschini, M., Bozzi, V., Palombo, F., McKinstry, S., Lassandro, G., Giordano, P., Noris, P., Balduini, C. L., Savoia, A., Balduini, A., Pippucci, T., Seri, M., Katsanis, N. & Pecci, A., 2019, In: Blood. 133, 12, p. 1346-1357 12 p.

Research output: Contribution to journal › Article › peer-review

MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder

Zaninetti, C., De Rocco, D., Giangregorio, T., Bozzi, V., Demeter, J., Leoni, P., Noris, P., Ryhänen, S., Barozzi, S., Pecci, A. & Savoia, A., Feb 2019, In: Hamostaseologie. 39, 1, p. 87-94 8 p.

Research output: Contribution to journal › Article › peer-review

2018

A new form of inherited thrombocytopenia caused by loss-of-function mutations in <em>PTPRJ</em>

Marconi, C., Di Buduo, C. A., LeVine, K., Barozzi, S., Faleschini, M., Bozzi, V., Palombo, F., McKinstry, S., Lassandro, G., Giordano, P., Noris, P., Balduini, C. L., Savoia, A., Balduini, A., Pippucci, T., Seri, M., Katsanis, N. & Pecci, A., Jan 1 2018, In: Blood. p. blood-2018-07-859496

Research output: Contribution to journal › Article › peer-review

A new form of inherited thrombocytopenia caused by loss-of-function mutations in PTPRJ

Marconi, C., Di Buduo, C. A., LeVine, K., Barozzi, S., Faleschini, M., Bozzi, V., Palombo, F., McKinstry, S., Lassandro, G., Giordano, P., Noris, P., Balduini, C. L., Savoia, A., Balduini, A., Pippucci, T., Seri, M., Katsanis, N. & Pecci, A., Dec 27 2018, (E-pub ahead of print) In: Blood.

Research output: Contribution to journal › Article › peer-review

MYH9 -Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder

Zaninetti, C., de Rocco, D., Giangregorio, T., Bozzi, V., Demeter, J., Leoni, P., Noris, P., Ryhänen, S., Barozzi, S., Pecci, A. & Savoia, A., Jul 11 2018, (Accepted/In press) In: Hamostaseologie.

Research output: Contribution to journal › Article › peer-review

MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder

Zaninetti, C., De Rocco, D., Giangregorio, T., Bozzi, V., Demeter, J., Leoni, P., Noris, P., Ryhänen, S., Barozzi, S., Pecci, A. & Savoia, A., Jul 11 2018, (E-pub ahead of print) In: Hamostaseologie.

Research output: Contribution to journal › Article › peer-review

Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim

Pecci, A., Ragab, I., Bozzi, V., De Rocco, D., Barozzi, S., Giangregorio, T., Ali, H., Melazzini, F., Sallam, M., Alfano, C., Pastore, A., Balduini, C. L. & Savoia, A., Jan 1 2018, In: EMBO Molecular Medicine. 10, 1, p. 63-75 13 p.

Research output: Contribution to journal › Article › peer-review

Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim

Pecci, A., Ragab, I., Bozzi, V., De Rocco, D., Barozzi, S., Giangregorio, T., Ali, H., Melazzini, F., Sallam, M., Alfano, C., Pastore, A., Balduini, C. L. & Savoia, A., Jan 2018, In: EMBO Molecular Medicine. 10, 1, p. 63-75 13 p.

Research output: Contribution to journal › Article › peer-review

2017

Effects of tinnitus retraining therapy with different colours of sound

Barozzi, S., Ambrosetti, U., Callaway, S. L., Behrens, T., Passoni, S. & Bo, L. D., Dec 1 2017, In: International Tinnitus Journal. 21, 2, p. 139-143 5 p.

Research output: Contribution to journal › Article › peer-review

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

Zaninetti, C., Santini, V., Tiniakou, M., Barozzi, S., Savoia, A. & Pecci, A., Dec 2017, In: Journal of Thrombosis and Haemostasis. 15, 12, p. 2388-2392 5 p.

Research output: Contribution to journal › Article › peer-review

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

Zaninetti, C., Santini, V., Tiniakou, M., Barozzi, S., Savoia, A. & Pecci, A., Dec 1 2017, In: Journal of Thrombosis and Haemostasis. 15, 12, p. 2388-2392 5 p.

Research output: Contribution to journal › Article › peer-review

2016

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

Melazzini, F., Palombo, F., Balduini, A., De Rocco, D., Marconi, C., Noris, P., Gnan, C., Pippucci, T., Bozzi, V., Faleschini, M., Barozzi, S., Doubek, M., Buduo, C. A. D., Kozubik, K. S., Radova, L., Loffredo, G., Pospisilova, S., Alfano, C., Seri, M., Balduini, C., & 2 othersPecci, A. & Savoia, A., Oct 31 2016, In: Haematologica. 101, 11, p. 1333-1342 10 p.

Research output: Contribution to journal › Article › peer-review

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

Melazzini, F., Palombo, F., Balduini, A., De Rocco, D., Marconi, C., Noris, P., Gnan, C., Pippucci, T., Bozzi, V., Faleschini, M., Barozzi, S., Doubek, M., Buduo, C. A. D., Kozubik, K. S., Radova, L., Loffredo, G., Pospisilova, S., Alfano, C., Seri, M., Balduini, C. L., & 2 othersPecci, A. & Savoia, A., Oct 31 2016, In: Haematologica. 101, 11, p. 1333-1342 10 p.

Research output: Contribution to journal › Article › peer-review

SLFN14-related thrombocytopenia: Identification within a large series of patients with inherited thrombocytopenia

Marconi, C., Di Buduo, C. A., Barozzi, S., Palombo, F., Pardini, S., Zaninetti, C., Pippucci, T., Noris, P., Balduini, A., Seri, M. & Pecci, A., May 1 2016, In: Thrombosis and Haemostasis. 115, 5, p. 1076-1079 4 p.

Research output: Contribution to journal › Article › peer-review

2015

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

Vanoli, A., Necchi, V., Barozzi, S., Manca, R., Pecci, A. & Solcia, E., May 8 2015, In: Histochemistry and Cell Biology. 144, 2, p. 179-184 6 p.

Research output: Contribution to journal › Article › peer-review

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

Pecci, A., Necchi, V., Barozzi, S., Vitali, A., Boveri, E., Elena, C., Bernasconi, P., Noris, P. & Solcia, E., Jun 18 2015, In: Journal of Hematology and Oncology. 8, 1, 71.

Research output: Contribution to journal › Article › peer-review

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

Verver, E., Pecci, A., De Rocco, D., Ryhänen, S., Barozzi, S., Kunst, H., Topsakal, V. & Savoia, A., Jul 1 2015, In: Clinical Genetics. 88, 1, p. 85-89 5 p.

Research output: Contribution to journal › Article › peer-review

2014

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

Noris, P., Biino, G., Pecci, A., Civaschi, E., Savoia, A., Seri, M., Melazzini, F., Loffredo, G., Russo, G., Bozzi, V., Notarangelo, L. D., Gresele, P., Heller, P. G., Pujol-Moix, N., Kunishima, S., Cattaneo, M., Bussel, J., De Candia, E., Cagioni, C., Ramenghi, U., & 3 othersBarozzi, S., Fabris, F. & Balduini, C. L., Aug 7 2014, In: Blood. 124, 6

Research output: Contribution to journal › Article › peer-review

2013

MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations

De Rocco, D., Zieger, B., Platokouki, H., Heller, P. G., Pastore, A., Bottega, R., Noris, P., Barozzi, S., Glembotsky, A. C., Pergantou, H., Balduini, C. L., Savoia, A. & Pecci, A., Jan 2013, In: European Journal of Medical Genetics. 56, 1, p. 7-12 6 p.

Research output: Contribution to journal › Article › peer-review

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

Necchi, V., Balduini, A., Noris, P., Barozzi, S., Sommi, P., di Buduo, C., Balduini, C. L., Solcia, E. & Pecci, A., 2013, In: Thrombosis and Haemostasis. 109, 2, p. 263-271 9 p.

Research output: Contribution to journal › Article › peer-review

2012

MYH9-related disorders: Report on a patient of greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation

Economou, M., Batzios, S. P., Pecci, A., Printza, N., Savoia, A., Barozzi, S., Theodoridou, S., Teli, A., Psillas, G. & Zafeiriou, D. I., Aug 2012, In: Journal of Pediatric Hematology/Oncology. 34, 6, p. 412-415 4 p.

Research output: Contribution to journal › Article › peer-review

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

Pecci, A., Barozzi, S., d'Amico, S. & Balduini, C. L., Jun 2012, In: Thrombosis and Haemostasis. 107, 6, p. 1188-1189 2 p.

Research output: Contribution to journal › Article › peer-review

2011

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

Pippucci, T., Savoia, A., Perrotta, S., Pujol-Moix, N., Noris, P., Castegnaro, G., Pecci, A., Gnan, C., Punzo, F., Marconi, C., Gherardi, S., Loffredo, G., De Rocco, D., Scianguetta, S., Barozzi, S., Magini, P., Bozzi, V., Dezzani, L., Di Stazio, M., Ferraro, M., & 3 othersPerini, G., Seri, M. & Balduini, C. L., Jan 7 2011, In: American Journal of Human Genetics. 88, 1, p. 115-120 6 p.

Research output: Contribution to journal › Article › peer-review

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

Pecci, A., Bozzi, V., Panza, E., Barozzi, S., Gruppi, C., Seri, M. & Balduini, C. L., Oct 2011, In: Thrombosis and Haemostasis. 106, 4, p. 693-704 12 p.

Research output: Contribution to journal › Article › peer-review

Serena Barozzi

Research output

Search results