SPENA, SILVIA
SPENA, SILVIA
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia
2002 R. Asselta, S. Spena, S. Duga, F. Peyvandi, M. Malcovati, P.M. Mannucci, M.L. Tenchini
Analysis of the structural effects of four novel and a previously known mutations causing factor XI deficiency
2009 S. Spena, R. Asselta, S. Caccia, V. Rimoldi, S.H. Giacomelli, A. Tagliaferri, F. Peyvandi, G. Castaman, S. Duga
APPROCCI TECNOLOGICI MULTIPLI PER L'IDENTIFICAZIONE DI MUTAZIONI E MECCANISMI PATOGENETICI IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI
2012 C. Gervasini, G. Negri, P. Colapietro, F. Forzano, M. Silengo, C. Picinelli, D. Rusconi, L. Basso Ricci, L. Garavelli, ..R. Tenconi, P. Finelli, S. Spena, L. Larizza
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome : an update of the CREBBP deletion repertoire
2015 D. Rusconi, G. Negri, P. Colapietro, C. Picinelli, D. Milani, S. Spena, C. Magnani, M.C. Silengo, L. Sorasio, V. Curtisova, M.L. Cavaliere, P. Prontera, G. Stangoni, G.B. Ferrero, E. Biamino, R. Fischetto, M. Piccione, P. Gasparini, L. Salviati, A. Selicorni, P. Finelli, L. Larizza, C. Gervasini
Characterization of the genetic basis of FXI deficiency in fourteen unrelated patients
2009 V. Rimoldi, I. Guella, S. Spena, N. Ciavarella, F. Peyvandi, R. Asselta, P.M. Mannucci, S. Duga
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene
2015 G. Negri, D. Milani, P. Colapietro, F. Forzano, M. Della Monica, D. Rusconi, L. Consonni, L.G. Caffi, P. Finelli, G. Scarano, C. Magnani, A. Selicorni, S. Spena, L. Larizza, C. Gervasini
Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aalpha-chain gene
2004 S. Spena, S. Duga, R. Asselta, F. Peyvandi, C. Mahasandana, M. Malcovati, M.L. Tenchini
Congenital afibrinogenemia : intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene
2003 S. Spena, R. Asselta, S. Duga, M. Malcovati, F. Peyvandi, P.M. Mannucci, M.L. Tenchini
Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites
2002 S. Spena, S. Duga, R. Asselta, M. Malcovati, F. Peyvandi, M.L. Tenchini
Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs
2001 R. Asselta, S. Duga, S. Spena, E. Santagostino, F. Peyvandi, G. Piseddu, R. Targhetta, M. Malcovati, P.M. Mannucci, M.L. Tenchini
Congenital hypofibrinogenemia : characterization of two missense mutations affecting fibrinogen assembly and secretion
2008 M. Platè, R. Asselta, S. Spena, M. Spreafico, S. Fagoonee, F. Peyvandi, M.L. Tenchini, S. Duga
Cryptic splice site usage in exon 7 of the human fibrinogen Bbeta-chain gene is regulated by a naturally silent SF2/ASF binding site within this exon
2006 S. Spena, M.T. Tenchini, E. Buratti
DELEZIONI IN 16p13.2 COINVOLGENTI TOTALMENTE O PARZIALMENTE IL GENE CREBBP IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI
2013 C. Gervasini, D. Rusconi, P. Colapietro, S. Spena, C. Picinelli, G. Negri, D. Milani, A. Selicorni, P. Finelli, L. Larizza
Development of a specific monoclonal antibody to detect male cells expressing the rps4y1 protein
2021 S. Spena, C. Cordiglieri, I. Garagiola, F. Peyvandi
Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript
2013 V. Rimoldi, G. Soldà, R. Asselta, S. Spena, C. Stuani, E. Buratti, S. Duga
Genetic polymorphisms and the development of invasive bacterial infections in children
2016 S. Esposito, S. Bosis, A. Orenti, S. Spena, V. Montinaro, S. Bianchini, A. Zampiero, N. Principi
Genetic Polymorphisms of Functional Candidate Genes and Recurrent Acute Otitis Media With or Without Tympanic Membrane Perforation
2015 S. Esposito, P. Marchisio, A. Orenti, S. Spena, S. Bianchini, E. Nazzari, C. Rosazza, A. Zampiero, E. Biganzoli, N. Principi
Genetic variants at the chromosomal region 2q21.3 underlying inhibitor development in patients with severe haemophilia A
2022 S. Spena, A. Cairo, E. Pappalardo, M.M. Gorski, I. Garagiola, S. Hassan, R. Gualtierotti, F. Peyvandi
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome
2012 J.P. Lopez-Atalaya, C. Gervasini, F. Mottadelli, S. Spena, M. Piccione, G. Scarano, A. Selicorni, A. Barco, L. Larizza
Impact of genetic polymorphisms on paediatric atopic dermatitis
2015 S. Esposito, M.F. Patria, S. Spena, C. Codecà, C. Tagliabue, A. Zampiero, M. Lelii, V. Montinaro, C. Pelucchi, N. Principi