• 349 Citations
  • 9 h-Index
20112019
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Research Output 2011 2019

  • 349 Citations
  • 9 h-Index
  • 24 Article
  • 1 Letter
2019

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 journalArticle

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 journalArticle

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 journalArticle

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 journalArticle

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 journalArticle

Myosin Heavy Chains
Thrombocytopenia
Mutation
Deafness
Amino Acid Substitution
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 journalArticle

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 journalArticle

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 journalArticle

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 journalArticle

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 journalArticle

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, Pecci, A. & Savoia, A., Oct 31 2016, In : Haematologica. 101, 11, p. 1333-1342 10 p.

Research output: Contribution to journalArticle

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, Pecci, A. & Savoia, A., Oct 31 2016, In : Haematologica. 101, 11, p. 1333-1342 10 p.

Research output: Contribution to journalArticle

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 journalArticle

2015
5 Citations (Scopus)
Cytoplasmic Structures
Proteins
Fetal Development
Heat-Shock Proteins
Inflammation
4 Citations (Scopus)
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 journalArticle

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, Barozzi, S., Fabris, F. & Balduini, C. L., Aug 7 2014, In : Blood. 124, 6

Research output: Contribution to journalArticle

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 journalArticle

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 journalArticle

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 journalArticle

Myosin Heavy Chains
Hematuria
Cataract
Mutation
Nonmuscle Myosin Type IIA
27 Citations (Scopus)
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, Perini, 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 journalArticle

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 journalArticle

Nonmuscle Myosin Type IIA
Thrombocytopenia
Cell Movement
Megakaryocytes
Blood Platelets