SPENA, SILVIA

SPENA, SILVIA  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

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Risultati 1 - 20 di 34 (tempo di esecuzione: 0.0 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
Gender equity in hemophilia: need for healthcare, familial, and societal advocacy 2024 Gualtierotti, RobertaGaragiola, IsabellaMortarino, MimosaSpena, SilviaPeyvandi, Flora + Article (author) -
Worldwide SARS-CoV-2 haplotype distribution in early pandemic 2022 Spena, SilviaPeyvandi, Flora + 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) -
Development of a specific monoclonal antibody to detect male cells expressing the rps4y1 protein 2021 Spena S.Garagiola I.Peyvandi F. + Article (author) -
Prediction of Factor VIII inhibitor development in the SIPPET cohort by mutational analysis and Factor VIII antigen measurement 2018 S. SpenaI. GaragiolaP. M. MannucciF. Payvandi + Article (author) -
The Influence of F8 Mutation and Thrombophilic Genetic Markers on Bleeding Phenotype of Patients Affected with Severe Hemophilia A in the SIPPET Cohort 2017 S. SpenaR. PallaI. GaragiolaM. KarimiM. E. MancusoF. Peyvandi + Article (author) -
Mutational Repertoire in the SIPPET Cohort and Prediction of FVIII Inhibitor Risk 2017 S. SpenaI. GaragiolaM. KarimiM. E. MancusoF. Peyvandi + 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) -
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi Syndrome patients 2015 S. SpenaD. MilaniD. RusconiG. NegriP. ColapietroL. LarizzaC. Gervasini + Article (author) -
Ultra-Rare Syndromes : the Example of Rubinstein-Taybi Syndrome 2015 S. SpenaC. Gervasini + Article (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) -
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) -
Impact of genetic polymorphisms on paediatric atopic dermatitis 2015 S. EspositoS. SpenaC. TagliabueA. ZampieroM. LeliiV. MontinaroN. Principi + 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) -
NEW POINTMUTATIONS AND EXON DELETIONS OF THE EP300 GENE IN PATIENTS WITH RUBINSTEIN-TAYBI SYNDROME 2013 G. NegriP. ColapietroD. RusconiD. MilaniL. ConsonniP. FinelliS. SpenaL. LarizzaC. Gervasini + Book Part (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) -
NUOVE MUTAZIONI PUNTIFORMI E DELEZIONI ESONICHE DEL GENE EP300 IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 2013 G. NegriP. ColapietroD. RusconiD. MilaniL. ConsonniP. FinelliS. SpenaL. LarizzaC. Gervasini + Book Part (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) -
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) -
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome 2012 C. GervasiniF. MottadelliS. SpenaL. Larizza + Article (author) -