Sfoglia per Autore
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome : an update of the CREBBP deletion repertoire
2015 D. Rusconi, G. Negri, P. Colapietro, C. Picinelli, D. Milani, S. Spena, 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, P. Finelli, L. Larizza, C. Gervasini
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi Syndrome patients
2015 S. Spena, D. Milani, D. Rusconi, G. Negri, P. Colapietro, N. Elcioglu, F. Bedeschi, A. Pilotta, L. Spaccini, A. Ficcadenti, C. Magnani, G. Scarano, A. Selicorni, L. Larizza, C. Gervasini
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene
2015 G. Negri, D. Milani, P. Colapietro, F. Forzano, M. Della Monica, D. Rusconi, L. Consonni, L.G. Caffi, P. Finelli, G. Scarano, C. Magnani, A. Selicorni, S. Spena, L. Larizza, C. Gervasini
Impact of genetic polymorphisms on paediatric atopic dermatitis
2015 S. Esposito, M.F. Patria, S. Spena, C. Codecà, C. Tagliabue, A. Zampiero, M. Lelii, V. Montinaro, C. Pelucchi, N. Principi
Ultra-Rare Syndromes : the Example of Rubinstein-Taybi Syndrome
2015 S. Spena, C. Gervasini, D. Milani
Genetic Polymorphisms of Functional Candidate Genes and Recurrent Acute Otitis Media With or Without Tympanic Membrane Perforation
2015 S. Esposito, P. Marchisio, A. Orenti, S. Spena, S. Bianchini, E. Nazzari, C. Rosazza, A. Zampiero, E. Biganzoli, N. Principi
Genetic polymorphisms and the development of invasive bacterial infections in children
2016 S. Esposito, S. Bosis, A. Orenti, S. Spena, V. Montinaro, S. Bianchini, A. Zampiero, N. Principi
Mutational Repertoire in the SIPPET Cohort and Prediction of FVIII Inhibitor Risk
2017 S. Spena, I. Garagiola, A. Cannavò, M. Mortarino, A. El-Beshlawy, M. Elalfy, V. Ramanan, P. Eshghi, S. Hanagavadi7, R. Varadarajan, M. Karimi, M.V. Manglani, C. Ross, G. Young, T. Seth, S. Apte, D.M. Nayak, E. Santagostino, M.E. Mancuso, 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, P.M. Mannucci, F.R. Rosendaal, F. Peyvandi
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, S. Spena, R. Palla, I. Garagiola, A. El-Beshlawy, M. Elalfy, V. Ramanan, P. Eshghi, S. Hanagavadi, R. Varadarajan, M. Karimi, M.V. Manglani, C. Ross, G. Young, T. Seth, S. Apte, D.M. Nayak, E. Santagostino, M.E. Mancuso, 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, F. Peyvandi
Prediction of Factor VIII inhibitor development in the SIPPET cohort by mutational analysis and Factor VIII antigen measurement
2018 S. Spena, I. Garagiola, A. Cannavò, M. Mortarino, P.M. Mannucci, F.R. Rosendaal, F. Payvandi, A. El-Beshlawy, M. Elalfy, V. Ramanan, P. Eshghi, S. Hanagavadi, R. Varadarajan, M. Karimi, M.V. Manglani, C. Ross, G. Young, T. Seth, S. Apte, D.M. Nayak, E. Santagostino, M.E. Mancuso, A.C. Sandoval Gonzalez, J.N. Mahlangu, S. Bonanad Boix
Development of a specific monoclonal antibody to detect male cells expressing the rps4y1 protein
2021 S. Spena, C. Cordiglieri, I. Garagiola, F. Peyvandi
Genetic variants at the chromosomal region 2q21.3 underlying inhibitor development in patients with severe haemophilia A
2022 S. Spena, A. Cairo, E. Pappalardo, M.M. Gorski, I. Garagiola, S. Hassan, R. Gualtierotti, F. Peyvandi
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