Sfoglia per Autore
DiGeorge-like syndrome in a child with a 3p12.3 deletion involving miRNA-4273 born to a diabetic mother
2014 Cirillo, Emilia; Gallo, Vera; Giardino, Giuliana; Galasso, G.; Romano, R.; D'Assante, Roberta; Genesio, R.; Baldini, A.; Nitsch, Lucio; Pignata, Claudio
TLR9 signaling in patients with ectodermal dysplasia and immunodeficiency associated with Nuclear Factor Essential Modulator (NEMO) mutations
2014 Giardino, Giuliana; Naddei, Roberta; Cirillo, Emilia; Gallo, Vera; Esposito, T.; Fusco, F.; Quinti, I.; Ursini, M. V.; Carsetti, R.; Pignata, Claudio
FOXN1 in cell development and human diseases
2014 Palamaro, Loredana; Romano, Rosa; Fusco, A.; Giardino, Giuliana; Gallo, Vera; Pignata, Claudio
Gastrointestinal involvement in patients affected with 22q11.2 deletion syndrome
2014 Giardino, Giuliana; Cirillo, Emilia; Maio, F.; Gallo, Vera; Esposito, T.; Naddei, Roberta; Grasso, F.; Pignata, Claudio
Immunodeficienze primitive: cosa c’è di nuovo
2013 Cirillo, Emilia; Gallo, Vera; Giardino, Giuliana; Pignata, Claudio
Phenotypic characterization and outcome of paediatric patients affected with haemophagocytic syndrome of unknown genetic cause.
2013 Giardino, Giuliana; Veropalumbo, C; Ruggiero, Giuseppina; Naddei, R; Rubino, Valentina; Udhayachandran, A; Cirillo, Emilia; Gallo, Vera; Poggi, V; De Fusco, C; Pignata, Claudio
FOXN1: a master regulator gene of thymic epithelial development program
2013 Romano, Rosa; Palamaro, Loredana; Fusco, Anna; Giardino, Giuliana; Gallo, Vera; DEL VECCHIO, Luigi; Pignata, Claudio
Intergenerational familial phenotipic variability in 22Q11.2 subjects: a multicenter study within the italian primary immunodeficiencies network (IPINET)
2012 Cirillo, Emilia; Giardino, Giuliana; Gallo, Vera; Puliafito, P.; Ariganello, P.; Azzari, C.; Cardinale, F.; Consolini, R.; Martino, S.; Plebani, A.; Scarano, G.; Soresina, A. R.; Cancrini, C.; Digilio, M. C.; Pignata, Claudio
Elevated IgM levels in a patient with a de novo 13Q12.3Q14.11 deletion, mimicking an A-T like phenotype
2012 Cirillo, Emilia; Romano, R.; Giardino, Giuliana; Anne, D.; Maio, F.; Gallo, Vera; Di Gregorio, E.; Cavalieri, S.; Abate, G.; DEL VECCHIO, Luigi; Brusco, A.; Pignata, Claudio
Retrospective analysis of 21 pediatric patients affected with hemophagocytic syndrome of unknown genetic cause: clinical features and outcome
2012 Veropalumbo, C.; Giardino, Giuliana; Cirillo, Emilia; Gallo, Vera; Maio, F.; Esposito, T.; Naddei, R.; Grasso, F.; Poggi, V.; De Fusco, C.; Pignata, Claudio
Evaluation of executive functions in subjects affected with 22Q11.2 deletion syndrome: a neuroanatomical hypothesis
2012 Marino, M.; Riccio, M. P.; Tiano, C.; Cirillo, Emilia; Maio, F.; Gallo, Vera; Esposito, T.; Roberta, N.; Pignata, Claudio; Bravaccio, Carmela
Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
---|---|---|---|---|
DiGeorge-like syndrome in a child with a 3p12.3 deletion involving miRNA-4273 born to a diabetic mother | 1.5 Abstract in rivista | 2014 | Cirillo, Emilia; Gallo, Vera; Giardino, Giuliana; Galasso, G.; Romano, R.; D'Assante, Roberta; Genesio, R.; Baldini, A.; Nitsch, Lucio; Pignata, Claudio | |
TLR9 signaling in patients with ectodermal dysplasia and immunodeficiency associated with Nuclear Factor Essential Modulator (NEMO) mutations | 1.5 Abstract in rivista | 2014 | Giardino, Giuliana; Naddei, Roberta; Cirillo, Emilia; Gallo, Vera; Esposito, T.; Fusco, F.; Quinti, I.; Ursini, M. V.; Carsetti, R.; Pignata, Claudio | |
FOXN1 in cell development and human diseases | 1.1 Articolo in rivista | 2014 | Palamaro, Loredana; Romano, Rosa; Fusco, A.; Giardino, Giuliana; Gallo, Vera; Pignata, Claudio | |
Gastrointestinal involvement in patients affected with 22q11.2 deletion syndrome | 1.1 Articolo in rivista | 2014 | Giardino, Giuliana; Cirillo, Emilia; Maio, F.; Gallo, Vera; Esposito, T.; Naddei, Roberta; Grasso, F.; Pignata, Claudio | |
Immunodeficienze primitive: cosa c’è di nuovo | 1.1 Articolo in rivista | 2013 | Cirillo, Emilia; Gallo, Vera; Giardino, Giuliana; Pignata, Claudio | |
Phenotypic characterization and outcome of paediatric patients affected with haemophagocytic syndrome of unknown genetic cause. | 1.1 Articolo in rivista | 2013 | Giardino, Giuliana; Veropalumbo, C; Ruggiero, Giuseppina; Naddei, R; Rubino, Valentina; Udhayachandran, A; Cirillo, Emilia; Gallo, Vera; Poggi, V; De Fusco, C; Pignata, Claudio | |
FOXN1: a master regulator gene of thymic epithelial development program | 1.1 Articolo in rivista | 2013 | Romano, Rosa; Palamaro, Loredana; Fusco, Anna; Giardino, Giuliana; Gallo, Vera; DEL VECCHIO, Luigi; Pignata, Claudio | |
Intergenerational familial phenotipic variability in 22Q11.2 subjects: a multicenter study within the italian primary immunodeficiencies network (IPINET) | 1.5 Abstract in rivista | 2012 | Cirillo, Emilia; Giardino, Giuliana; Gallo, Vera; Puliafito, P.; Ariganello, P.; Azzari, C.; Cardinale, F.; Consolini, R.; Martino, S.; Plebani, A.; Scarano, G.; Soresina, A. R.; Cancrini, C.; Digilio, M. C.; Pignata, Claudio | |
Elevated IgM levels in a patient with a de novo 13Q12.3Q14.11 deletion, mimicking an A-T like phenotype | 1.5 Abstract in rivista | 2012 | Cirillo, Emilia; Romano, R.; Giardino, Giuliana; Anne, D.; Maio, F.; Gallo, Vera; Di Gregorio, E.; Cavalieri, S.; Abate, G.; DEL VECCHIO, Luigi; Brusco, A.; Pignata, Claudio | |
Retrospective analysis of 21 pediatric patients affected with hemophagocytic syndrome of unknown genetic cause: clinical features and outcome | 1.5 Abstract in rivista | 2012 | Veropalumbo, C.; Giardino, Giuliana; Cirillo, Emilia; Gallo, Vera; Maio, F.; Esposito, T.; Naddei, R.; Grasso, F.; Poggi, V.; De Fusco, C.; Pignata, Claudio | |
Evaluation of executive functions in subjects affected with 22Q11.2 deletion syndrome: a neuroanatomical hypothesis | 1.5 Abstract in rivista | 2012 | Marino, M.; Riccio, M. P.; Tiano, C.; Cirillo, Emilia; Maio, F.; Gallo, Vera; Esposito, T.; Roberta, N.; Pignata, Claudio; Bravaccio, Carmela |
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