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
2002-08-01 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
2009-09-01 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
2012-11-25 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
2015-01-01 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
2009-01-01 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
2015-01-01 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
2004-11-01 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
2003-10-15 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
2002-01-01 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
2001-01-01 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
2008-01-01 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
2006-06-01 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
2013-09-25 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
2021-02-01 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
2013-01-01 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
2016-03-01 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
2015-10-01 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
2022-01-01 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
2012-01-01 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
2015-09-01 S. Esposito, M.F. Patria, S. Spena, C. Codecà, C. Tagliabue, A. Zampiero, M. Lelii, V. Montinaro, C. Pelucchi, N. Principi