Sfoglia per Autore
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 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
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
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
Uniparental disomy of chromosome 4 including a novel deletion in the FGA gene that causes congenital afibrinogenemia
2004 S. Spena, R. Asselta, S. Duga, L. Monaldini, M. Malcovati, M.L. Tenchini
Missense or splicing mutation? The case of a fibrinogen Bβ-chain mutation causing severe hypofibrinogenemia
2004 R. Asselta, S. Duga, S. Spena, F. Peyvandi, G. Castaman, M. Malcovati, P.M. Mannucci, M.L. Tenchini
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
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
Molecular genetics of quantitative fibrinogen disorders
2007 R. Asselta, S. Spena, S. Duga, M.L. Tenchini
Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia
2007 S. Spena, R. Asselta, M. Platé, G. Castaman, S. Duga, 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
Molecular characterization of two novel mutations causing factor XI deficiency : a splicing defect and a missense mutation responsible for a CRM+ defect
2008 I. Guella, G. Soldà, S. Spena, R. Asselta, R. Ghiotto, M.L. Tenchini, G. Castaman, S. Duga
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
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
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
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
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
NEW POINTMUTATIONS AND EXON DELETIONS OF THE EP300 GENE IN PATIENTS WITH RUBINSTEIN-TAYBI SYNDROME
2013 G. Negri, P. Colapietro, F. Forzano, D. Rusconi, D. Milani, L. Consonni, L.G. Caffi, F. Faravelli, P. Finelli, A. Selicorni, S. Spena, L. Larizza, C. Gervasini
NUOVE MUTAZIONI PUNTIFORMI E DELEZIONI ESONICHE DEL GENE EP300 IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI
2013 G. Negri, P. Colapietro, F. Forzano, D. Rusconi, D. Milani, L. Consonni, L. Caffi, F. Faravelli, P. Finelli, A. Selicorni, S. Spena, L. Larizza, C. Gervasini
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
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