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 Autore(i) Tipo File Abstract
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia 1-ago-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 1-set-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 25-nov-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 1-gen-2015 D. RusconiG. NegriP. ColapietroS. SpenaP. FinelliL. LarizzaC. Gervasini + Article (author) -
Characterization of the genetic basis of FXI deficiency in fourteen unrelated patients 1-gen-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 1-gen-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 1-nov-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 15-ott-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 1-gen-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 1-gen-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 1-gen-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 1-giu-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 25-set-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 1-feb-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 1-gen-2013 V. RimoldiG. SoldàR. AsseltaS. SpenaS. Duga + Article (author) -
Genetic polymorphisms and the development of invasive bacterial infections in children 1-mar-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 1-ott-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 1-gen-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 1-gen-2012 C. GervasiniF. MottadelliS. SpenaL. Larizza + Article (author) -
Impact of genetic polymorphisms on paediatric atopic dermatitis 1-set-2015 S. EspositoS. SpenaC. TagliabueA. ZampieroM. LeliiV. MontinaroN. Principi + Article (author) -