Research Output per year
Research Output 2011 2019
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
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
Platelets
Thrombocytopenia
Blood Platelets
Mutation
Megakaryocytes
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
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-2018-07-859496Research output: Contribution to journal › Article
Thrombocytopenia
Blood Platelets
Mutation
Megakaryocytes
Class 3 Receptor-Like Protein Tyrosine Phosphatases
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, In : Blood.Research output: Contribution to journal › Article
Thrombocytopenia
Blood Platelets
Mutation
Megakaryocytes
Receptor-Like Protein Tyrosine Phosphatases
1
Citation
(Scopus)
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
Myosin Heavy Chains
Thrombocytopenia
Mutation
Deafness
Amino Acid Substitution
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, In : Hamostaseologie.Research output: Contribution to journal › Article
Myosin Heavy Chains
Thrombocytopenia
Mutation
Deafness
Amino Acid Substitution
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
Thrombopoietin
Mutation
Thrombopoietin Receptors
Bone Marrow
Aptitude
6
Citations
(Scopus)
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
Thrombopoietin
Mutation
Thrombopoietin Receptors
Bone Marrow
Aptitude
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
Tinnitus
Color
Therapeutics
Noise
Patient Satisfaction
9
Citations
(Scopus)
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
Myelodysplastic Syndromes
Diagnostic Errors
Thrombocytopenia
Mutation
Bone Marrow Examination
9
Citations
(Scopus)
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
Myelodysplastic Syndromes
Diagnostic Errors
Thrombocytopenia
Mutation
Bone Marrow Examination
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 others, , Oct 31 2016, In : Haematologica. 101, 11, p. 1333-1342 10 p.Research output: Contribution to journal › Article
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Thrombocytopenia
Blood Platelets
Hematologic Neoplasms
Pedigree
36
Citations
(Scopus)
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 others, , Oct 31 2016, In : Haematologica. 101, 11, p. 1333-1342 10 p.Research output: Contribution to journal › Article
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Thrombocytopenia
Blood Platelets
Hematologic Neoplasms
Pedigree
16
Citations
(Scopus)
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
2015
5
Citations
(Scopus)
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
Cytoplasmic Structures
Proteins
Fetal Development
Heat-Shock Proteins
Inflammation
4
Citations
(Scopus)
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
Cytoplasmic Structures
Proteasome Endopeptidase Complex
Ubiquitin
Neoplasms
Myelodysplastic Syndromes
6
Citations
(Scopus)
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
Deafness
Mutation
Sensorineural Hearing Loss
Nonmuscle Myosin Type IIA
Penetrance
2014
55
Citations
(Scopus)
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 others, , Aug 7 2014, In : Blood. 124, 6Research output: Contribution to journal › Article
Platelets
Blood Platelets
Idiopathic Thrombocytopenic Purpura
Blood
Differential Diagnosis
2013
20
Citations
(Scopus)
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
Genetic Association Studies
Mutation
Myosins
Nonmuscle Myosin Type IIA
Inclusion Bodies
35
Citations
(Scopus)
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
Cytoplasmic Structures
Megakaryocytes
Proteasome Endopeptidase Complex
Ubiquitin
Thrombocytopenia
2012
3
Citations
(Scopus)
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
Myosin Heavy Chains
Hematuria
Cataract
Mutation
Nonmuscle Myosin Type IIA
27
Citations
(Scopus)
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
2011
99
Citations
(Scopus)
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 others, , Jan 7 2011, In : American Journal of Human Genetics. 88, 1, p. 115-120 6 p.Research output: Contribution to journal › Article
5' Untranslated Regions
Thrombocytopenia
Mutation
Genes
Genome
18
Citations
(Scopus)
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
Nonmuscle Myosin Type IIA
Thrombocytopenia
Cell Movement
Megakaryocytes
Blood Platelets