SPENA, SILVIA

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SPENA, SILVIA

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Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti

Pubblicazioni

Risultati 1 - 20 di 31 (tempo di esecuzione: 0.0 secondi).

	Titolo	Data di pubblicazione	Autori	Tipo	File	Abstract
1	Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia	ago-2002	ASSELTA, ROSANNA ; SPENA, SILVIA ; DUGA, STEFANO ; PAYVANDI, FLORA ; MALCOVATI, MASSIMO ; MANNUCCI, PIER MANNUCCIO ; TENCHINI, MARIA LUISA GIUDITTA	Article (author)	-
2	Analysis of the structural effects of four novel and a previously known mutations causing factor XI deficiency	set-2009	SPENA, SILVIA ; ASSELTA, ROSANNA ; CACCIA, SONIA ; RIMOLDI, VALERIA ; S. H. Giacomelli; A. Tagliaferri; PAYVANDI, FLORA ; G. Castaman; DUGA, STEFANO	Article (author)	-	-
3	APPROCCI TECNOLOGICI MULTIPLI PER L'IDENTIFICAZIONE DI MUTAZIONI E MECCANISMI PATOGENETICI IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI	25-nov-2012	GERVASINI, CRISTINA COSTANZA GIOVANNA ; NEGRI, GLORIA ; COLAPIETRO, PATRIZIA ; F. Forzano; M. Silengo; C. Picinelli; RUSCONI, DANIELA ; L. Basso Ricci; L. Garavelli; TENCONI, ROSSANA ; FINELLI, PALMA ; SPENA, SILVIA ; LARIZZA, LIDIA	Book Part (author)	-
4	Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome : an update of the CREBBP deletion repertoire	2015	RUSCONI, DANIELA ; NEGRI, GLORIA ; COLAPIETRO, PATRIZIA ; C. Picinelli; D. Milani; SPENA, SILVIA ; 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; FINELLI, PALMA ; LARIZZA, LIDIA ; GERVASINI, CRISTINA COSTANZA GIOVANNA	Article (author)	riservati
5	Characterization of the genetic basis of FXI deficiency in fourteen unrelated patients	2009	RIMOLDI, VALERIA ; GUELLA, ILARIA ; SPENA, SILVIA ; N. Ciavarella; PAYVANDI, FLORA ; ASSELTA, ROSANNA ; MANNUCCI, PIER MANNUCCIO ; DUGA, STEFANO	Article (author)	-	-
6	Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene	2015	NEGRI, GLORIA ; MILANI, DONATELLA ; COLAPIETRO, PATRIZIA ; F. Forzano; M. Della Monica; RUSCONI, DANIELA ; L. Consonni; L. G. Caffi; FINELLI, PALMA ; G. Scarano; C. Magnani; A. Selicorni; SPENA, SILVIA ; LARIZZA, LIDIA ; GERVASINI, CRISTINA COSTANZA GIOVANNA	Article (author)	riservati
7	Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aalpha-chain gene	nov-2004	SPENA, SILVIA ; DUGA, STEFANO ; ASSELTA, ROSANNA ; PAYVANDI, FLORA ; C. Mahasandana; MALCOVATI, MASSIMO ; TENCHINI, MARIA LUISA GIUDITTA	Article (author)	-
8	Congenital afibrinogenemia : intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene	15-ott-2003	SPENA, SILVIA ; ASSELTA, ROSANNA ; DUGA, STEFANO ; MALCOVATI, MASSIMO ; PAYVANDI, FLORA ; MANNUCCI, PIER MANNUCCIO ; TENCHINI, MARIA LUISA GIUDITTA	Article (author)	-
9	Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites	2002	SPENA, SILVIA ; DUGA, STEFANO ; ASSELTA, ROSANNA ; MALCOVATI, MASSIMO ; PAYVANDI, FLORA ; TENCHINI, MARIA LUISA GIUDITTA	Article (author)	Open Access
10	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	ASSELTA, ROSANNA ; DUGA, STEFANO ; SPENA, SILVIA ; E. Santagostino; PAYVANDI, FLORA ; G. Piseddu; R. Targhetta; MALCOVATI, MASSIMO ; MANNUCCI, PIER MANNUCCIO ; TENCHINI, MARIA LUISA GIUDITTA	Article (author)	-
11	Congenital hypofibrinogenemia : characterization of two missense mutations affecting fibrinogen assembly and secretion	2008	M. Platè; ASSELTA, ROSANNA ; SPENA, SILVIA ; SPREAFICO, MARTA ; S. Fagoonee; PAYVANDI, FLORA ; TENCHINI, MARIA LUISA GIUDITTA ; DUGA, STEFANO	Article (author)	-
12	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	giu-2006	SPENA, SILVIA ; TENCHINI, MARIA LUISA GIUDITTA ; E. Buratti	Article (author)	-
13	DELEZIONI IN 16p13.2 COINVOLGENTI TOTALMENTE O PARZIALMENTE IL GENE CREBBP IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI	25-set-2013	GERVASINI, CRISTINA COSTANZA GIOVANNA ; RUSCONI, DANIELA ; COLAPIETRO, PATRIZIA ; SPENA, SILVIA ; C. Picinelli; NEGRI, GLORIA ; MILANI, DONATELLA ; A. Selicorni; FINELLI, PALMA ; LARIZZA, LIDIA	Book Part (author)	-
14	Development of a specific monoclonal antibody to detect male cells expressing the rps4y1 protein	feb-2021	SPENA, SILVIA ; Cordiglieri C.; GARAGIOLA, ISABELLA MARIA ; PAYVANDI, FLORA	Article (author)	Open Access
15	Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript	2013	RIMOLDI, VALERIA ; SOLDA', GIULIA MARIA EMILIA ANTONIETTA ; ASSELTA, ROSANNA ; SPENA, SILVIA ; C. Stuani; E. Buratti; DUGA, STEFANO	Article (author)	Open Access
16	Genetic polymorphisms and the development of invasive bacterial infections in children	mar-2016	ESPOSITO, SUSANNA ; BOSIS, SAMANTHA ; ORENTI, ANNALISA ; SPENA, SILVIA ; MONTINARO, VALENTINA ; BIANCHINI, SONIA ; ZAMPIERO, ALBERTO ; PRINCIPI, NICOLA	Article (author)	-
17	Genetic Polymorphisms of Functional Candidate Genes and Recurrent Acute Otitis Media With or Without Tympanic Membrane Perforation	ott-2015	ESPOSITO, SUSANNA ; MARCHISIO, PAOLA GIOVANNA ; ORENTI, ANNALISA ; SPENA, SILVIA ; BIANCHINI, SONIA ; NAZZARI, ERICA CAROLINA ; ROSAZZA, CHIARA ; ZAMPIERO, ALBERTO ; BIGANZOLI, ELIA ; PRINCIPI, NICOLA	Article (author)	Open Access
18	Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome	gen-2012	J. P. Lopez Atalaya; GERVASINI, CRISTINA COSTANZA GIOVANNA ; MOTTADELLI, FEDERICA ; SPENA, SILVIA ; M. Piccione; G. Scarano; A. Selicorni; A. Barco; LARIZZA, LIDIA	Article (author)	Open Access
19	Impact of genetic polymorphisms on paediatric atopic dermatitis	set-2015	ESPOSITO, SUSANNA ; M. F. Patria; SPENA, SILVIA ; C. Codecà; TAGLIABUE, CLAUDIA ; ZAMPIERO, ALBERTO ; LELII, MARA ; MONTINARO, VALENTINA ; C. Pelucchi; PRINCIPI, NICOLA	Article (author)	-
20	The Influence of F8 Mutation and Thrombophilic Genetic Markers on Bleeding Phenotype of Patients Affected with Severe Hemophilia A in the SIPPET Cohort	2017	A. Cannavò; SPENA, SILVIA ; PALLA, ROBERTA ; GARAGIOLA, ISABELLA MARIA ; A. El-Beshlawy; M. Elalfy; V. Ramanan; P. Eshghi; S. Hanagavadi; R. Varadarajan; KARIMI, MOJDEH ; M. V. Manglani; C. Ross; G. Young; T. Seth; S. Apte; D. M. Nayak; E. Santagostino; MANCUSO, MARIA ELISA ; A. C. Sandoval Gonzales; J. N. Mahlangu; S. Bonanad; M. Cerqueira; N. P. Ewing; C. Male; T. Owaidah; V. Soto Arellano; N. L. Kobrinsky; S. Majumdar; R. Perez Garrido; A. Sachdeva; M. Simpson; M. Thomas; E. Zanon; B. Antmen; K. Kavakli; M. J. Manco-Johnson; M. Martinez; E. Marzouka; M. G. Mazzucconi; D. Neme; A. Palomo; Bravo; R. Paredes Aguilera; A. Prezotti; K. Schmitt; B. M. Wicklund; B. Zulfikar; F. R. Rosendaal; P. M. Mannucci; PAYVANDI, FLORA	Article (author)	riservati	-

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SPENA, SILVIA

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