Worldwide SARS-CoV-2 haplotype distribution in early pandemic
Cairo, Andrea, Iorio, Marilena V, Spena, Silvia, Tagliabue, Elda, Peyvandi, Flora
Published in PloS one (16.02.2022)
Published in PloS one (16.02.2022)
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Genetic Variants Identified by Whole Exome Sequencing in a Large Italian Family with High Plasma Levels of Factor VIII and Von Willebrand Factor
Spena, Silvia, Cairo, Andrea, Gianniello, Francesca, Pappalardo, Emanuela, Mortarino, Mimosa, Garagiola, Isabella, Martinelli, Ida, Peyvandi, Flora
Published in International journal of molecular sciences (01.09.2023)
Published in International journal of molecular sciences (01.09.2023)
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Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
Rusconi, Daniela, Negri, Gloria, Colapietro, Patrizia, Picinelli, Chiara, Milani, Donatella, Spena, Silvia, Magnani, Cinzia, Silengo, Margherita Cirillo, Sorasio, Lorena, Curtisova, Vaclava, Cavaliere, Maria Luigia, Prontera, Paolo, Stangoni, Gabriela, Ferrero, Giovanni Battista, Biamino, Elisa, Fischetto, Rita, Piccione, Maria, Gasparini, Paolo, Salviati, Leonardo, Selicorni, Angelo, Finelli, Palma, Larizza, Lidia, Gervasini, Cristina
Published in Human genetics (01.06.2015)
Published in Human genetics (01.06.2015)
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Genetic polymorphisms and the development of invasive bacterial infections in children
Esposito, Susanna, Bosis, Samantha, Orenti, Annalisa, Spena, Silvia, Montinaro, Valentina, Bianchini, Sonia, Zampiero, Alberto, Principi, Nicola
Published in International journal of immunopathology and pharmacology (01.03.2016)
Published in International journal of immunopathology and pharmacology (01.03.2016)
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Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript
Rimoldi, Valeria, Soldà, Giulia, Asselta, Rosanna, Spena, Silvia, Stuani, Cristiana, Buratti, Emanuele, Duga, Stefano
Published in PloS one (22.03.2013)
Published in PloS one (22.03.2013)
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Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect
Guella, Ilaria, Soldà, Giulia, Spena, Silvia, Asselta, Rosanna, Ghiotto, Rossella, Tenchini, Maria Luisa, Castaman, Giancarlo, Duga, Stefano
Published in Thrombosis and haemostasis (01.03.2008)
Published in Thrombosis and haemostasis (01.03.2008)
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Analysis of the structural effects of four novel and a previously known mutations causing factor XI deficiency
Spena, Silvia, Asselta, Rosanna, Caccia, Sonia, Rimoldi, Valeria, Giacomelli, Sofia H, Tagliaferri, Annarita, Peyvandi, Flora, Castaman, Giancarlo, Duga, Stefano
Published in Thrombosis and haemostasis (01.09.2009)
Published in Thrombosis and haemostasis (01.09.2009)
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Congenital hypofibrinogenemia: Characterization of two missense mutations affecting fibrinogen assembly and secretion
Platè, Manuela, Asselta, Rosanna, Spena, Silvia, Spreafico, Marta, Fagoonee, Sharmila, Peyvandi, Flora, Tenchini, Maria Luisa, Duga, Stefano
Published in Blood cells, molecules, & diseases (01.11.2008)
Published in Blood cells, molecules, & diseases (01.11.2008)
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Genetic Variants Associated with High Plasma Levels of Factor VIII and Von Willebrand Factor in a Family with Thrombotic Episodes
Spena, Silvia, Cairo, Andrea, Gianniello, Francesca, Pappalardo, Emanuela, Mortarino, Mimosa, Garagiola, Isabella, Martinelli, Ida, Peyvandi, Flora
Published in Blood (02.11.2023)
Published in Blood (02.11.2023)
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The Histopathological Landscape of Synovitis in Hemophilic Arthropathy
Gualtierotti, Roberta, Suffritti, Chiara, Pescia, Carlo, Giachi, Andrea, Spena, Silvia, Molfino, Federico, Lavorato, Stanislao, Semproni, Eleonora, Truma, Addolorata, Arcudi, Sara, Ciavarella, Alessandro, Maggioni, Marco, Gianelli, Umberto, Siboni, Simona Maria, Acquati Lozej, Jacopo, Solimeno, Luigi Piero, Peyvandi, Flora
Published in Blood (02.11.2023)
Published in Blood (02.11.2023)
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Ultra-Rare Syndromes: The Example of Rubinstein–Taybi Syndrome
Spena, Silvia, Gervasini, Cristina, Milani, Donatella
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.09.2015)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.09.2015)
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Genetic variants at the chromosomal region 2q21.3 underlying inhibitor development in patients with severe haemophilia A
Spena, Silvia, Cairo, Andrea, Pappalardo, Emanuela, Gorski, Marcin M., Garagiola, Isabella, Hassan, Shermarke, Gualtierotti, Roberta, Peyvandi, Flora
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.03.2022)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.03.2022)
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Genetic Polymorphisms of Functional Candidate Genes and Recurrent Acute Otitis Media With or Without Tympanic Membrane Perforation
Esposito, Susanna, Marchisio, Paola, Orenti, Annalisa, Spena, Silvia, Bianchini, Sonia, Nazzari, Erica, Rosazza, Chiara, Zampiero, Alberto, Biganzoli, Elia, Principi, Nicola
Published in Medicine (Baltimore) (01.10.2015)
Published in Medicine (Baltimore) (01.10.2015)
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Journal Article
Impact of genetic polymorphisms on paediatric atopic dermatitis
Esposito, Susanna, Patria, Maria Francesca, Spena, Silvia, Codecà, Claudio, Tagliabue, Claudia, Zampiero, Alberto, Lelii, Mara, Montinaro, Valentina, Pelucchi, Claudio, Principi, Nicola
Published in International journal of immunopathology and pharmacology (01.09.2015)
Published in International journal of immunopathology and pharmacology (01.09.2015)
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Journal Article
Pseudo‐exon activation caused by a deep‐intronic mutation in the fibrinogen γ‐chain gene as a novel mechanism for congenital afibrinogenaemia
Spena, Silvia, Asselta, Rosanna, Platé, Manuela, Castaman, Giancarlo, Duga, Stefano, Tenchini, Maria Luisa
Published in British journal of haematology (01.10.2007)
Published in British journal of haematology (01.10.2007)
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