SPENA, SILVIA

SPENA, SILVIA  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

Mostra records
Risultati 1 - 20 di 32 (tempo di esecuzione: 0.006 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia 2002 R. AsseltaS. SpenaS. DugaF. PeyvandiM. MalcovatiP.M. MannucciM.L. Tenchini Article (author) -
Analysis of the structural effects of four novel and a previously known mutations causing factor XI deficiency 2009 S. SpenaR. AsseltaS. CacciaV. RimoldiF. PeyvandiS. Duga + Article (author) -
APPROCCI TECNOLOGICI MULTIPLI PER L'IDENTIFICAZIONE DI MUTAZIONI E MECCANISMI PATOGENETICI IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 2012 C. GervasiniG. NegriP. ColapietroD. Rusconi..R. TenconiP. FinelliS. SpenaL. Larizza + Book Part (author) -
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome : an update of the CREBBP deletion repertoire 2015 D. RusconiG. NegriP. ColapietroS. SpenaP. FinelliL. LarizzaC. Gervasini + Article (author) -
Characterization of the genetic basis of FXI deficiency in fourteen unrelated patients 2009 V. RimoldiI. GuellaS. SpenaF. PeyvandiR. AsseltaP.M. MannucciS. Duga + Article (author) -
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene 2015 G. NegriD. MilaniP. ColapietroD. RusconiP. FinelliS. SpenaL. LarizzaC. Gervasini + Article (author) -
Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aalpha-chain gene 2004 S. SpenaS. DugaR. AsseltaF. PeyvandiM. MalcovatiM.L. Tenchini + Article (author) -
Congenital afibrinogenemia : intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene 2003 S. SpenaR. AsseltaS. DugaM. MalcovatiF. PeyvandiP.M. MannucciM.L. Tenchini Article (author) -
Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites 2002 S. SpenaS. DugaR. AsseltaM. MalcovatiF. PeyvandiM.L. Tenchini Article (author) -
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. AsseltaS. DugaS. SpenaF. PeyvandiM. MalcovatiP.M. MannucciM.L. Tenchini + Article (author) -
Congenital hypofibrinogenemia : characterization of two missense mutations affecting fibrinogen assembly and secretion 2008 R. AsseltaS. SpenaM. SpreaficoF. PeyvandiM.L. TenchiniS. Duga + Article (author) -
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. SpenaM.T. Tenchini + Article (author) -
DELEZIONI IN 16p13.2 COINVOLGENTI TOTALMENTE O PARZIALMENTE IL GENE CREBBP IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 2013 C. GervasiniD. RusconiP. ColapietroS. SpenaG. NegriD. MilaniP. FinelliL. Larizza + Book Part (author) -
Development of a specific monoclonal antibody to detect male cells expressing the rps4y1 protein 2021 Spena S.Garagiola I.Peyvandi F. + Article (author) -
Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript 2013 V. RimoldiG. SoldàR. AsseltaS. SpenaS. Duga + Article (author) -
Genetic polymorphisms and the development of invasive bacterial infections in children 2016 S. EspositoS. BosisA. OrentiS. SpenaV. MontinaroS. BianchiniA. ZampieroN. Principi Article (author) -
Genetic Polymorphisms of Functional Candidate Genes and Recurrent Acute Otitis Media With or Without Tympanic Membrane Perforation 2015 S. EspositoP. MarchisioA. OrentiS. SpenaS. BianchiniE. NazzariC. RosazzaA. ZampieroE. BiganzoliN. Principi Article (author) -
Genetic variants at the chromosomal region 2q21.3 underlying inhibitor development in patients with severe haemophilia A 2022 Spena S.Pappalardo E.Gorski M. M.Garagiola I.Hassan S.Gualtierotti R.Peyvandi F. + Article (author) -
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome 2012 C. GervasiniF. MottadelliS. SpenaL. Larizza + Article (author) -
Impact of genetic polymorphisms on paediatric atopic dermatitis 2015 S. EspositoS. SpenaC. TagliabueA. ZampieroM. LeliiV. MontinaroN. Principi + Article (author) -