Pubblicazioni | IRCCS materno infantile Burlo Garofolo

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Pecci A, Klersy C, Gresele P, Lee KJD, De Rocco D, Bozzi V, Russo G, Heller PG, Loffredo G, Ballmaier M, Fabris F, Beggiato E, Kahr WHA, Pujol-Moix N, Platokouki H, Van Geet C, Noris P, Yerram P, Hermans C, Gerber B, Economou M, De Groot M, Zieger B, De Candia E, Fraticelli V, Kersseboom R, Piccoli GB, Zimmermann S, Fierro T, Glembotsky AC, Vianello F, Zaninetti C, Nicchia E, Güthner C, Baronci C, Seri M, Knight PJ, Balduini CL, Savoia A. MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Hum Mutat 2014;35(2):236-47.

De Rocco D, Zieger B, Platokouki H, Heller PG, Pastore A, Bottega R, Noris P, Barozzi S, Glembotsky AC, Pergantou H, Balduini CL, Savoia A, Pecci A. MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations. Eur J Med Genet 2013;56(1):7-12.

Savoia A, Germeshausen M, De Rocco D, Henschel B, Kratz CP, Kuhlen M, Rath B, Steuhl K-P, Wermes C, Ballmaier M. MYH9-related disease: Report on five German families and description of a novel mutation. Ann Hematol 2010;89(10):1057-9.

Economou M, Batzios SP, Pecci A, Printza N, Savoia A, Barozzi S, Theodoridou S, Teli A, Psillas G, Zafeiriou DI. MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation. J Pediatr Hematol Oncol 2012;34(6):412-5.

Zaninetti C, De Rocco D, Giangregorio T, Bozzi V, Demeter J, Leoni P, Noris P, Ryhänen S, Barozzi S, Pecci A, Savoia A. 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. Hamostaseologie 2019;39(1):87-94.

Noris P, Marconi C, De Rocco D, Melazzini F, Pippucci T, Loffredo G, Giangregorio T, Pecci A, Seri M, Savoia A. 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.

Verver EJJ, Topsakal V, Kunst HPM, Huygen PLM, Heller PG, Pujol-Moix N, Savoia A, Benazzo M, Fierro T, Grolman W, Gresele P, Pecci A. Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease. Ear Hear 2016;37(1):112-20.

Noris P, Biino G, Pecci A, Civaschi E, Savoia A, Seri M, Melazzini F, Loffredo G, Russo G, Bozzi V, Notarangelo LDora, Gresele P, Heller PG, Pujol-Moix N, Kunishima S, Cattaneo M, Bussel J, De Candia E, Cagioni C, Ramenghi U, Barozzi S, Fabris F, Balduini CL. Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders. Blood 2014;124(6):e4-e10.

Necchi V, Sommi P, Vitali A, Vanoli A, Savoia A, Ricci V, Solcia E. Polyubiquitinated proteins, proteasome, and glycogen characterize the particle-rich cytoplasmic structure (PaCS) of neoplastic and fetal cells. Histochem Cell Biol 2014;141(5):483-97.

Balduini CL, Pecci A, Savoia A. Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol 2011;154(2):161-74.

Svahn J, Bagnasco F, Cappelli E, Onofrillo D, Caruso S, Corsolini F, De Rocco D, Savoia A, Longoni D, Pillon M, Marra N, Ramenghi U, Farruggia P, Locasciulli A, Addari C, Cerri C, Mastrodicasa E, Casazza G, Verzegnassi F, Riccardi F, Haupt R, Barone A, Cesaro S, Cugno C, Dufour C. Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Associ. Am J Hematol 2016;91(7):666-71.

Savoia A, Kunishima S, De Rocco D, Zieger B, Rand ML, Pujol-Moix N, Caliskan U, Tokgoz H, Pecci A, Noris P, Srivastava A, Ward C, Morel-Kopp M-C, Alessi M-C, Bellucci S, Beurrier P, de Maistre E, Favier R, Hézard N, Hurtaud-Roux M-F, Latger-Cannard V, Lavenu-Bombled C, Proulle V, Meunier S, Négrier C, Nurden A, Randrianaivo H, Fabris F, Platokouki H, Rosenberg N, HadjKacem B, Heller PG, Karimi M, Balduini CL, Pastore A, Lanza F. Spectrum of the mutations in Bernard-Soulier syndrome. Hum Mutat 2014;35(9):1033-45.