Pietrobono, Roberta

Pietrobono, Roberta  

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1-gen-2019 Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. Sangiorgi, E; Azzarà, A; Molinario, C; Pietrobono, R; Rigante, D; Verrecchia, E; Sicignano, Ll; Genuardi, M; Gurrieri, F; Manna, R.
1-gen-2017 Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue Vaisfeld, Alessandro; Pomponi, Maria Grazia; Pietrobono, Roberta; Tabolacci, Elisabetta; Neri, Giovanni
1-gen-2013 Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. Gurrieri, Fiorella; Zollino, Marcella; Oliva, Antonio; Pascali, Vincenzo Lorenzo; Orteschi, Daniela; Pietrobono, Roberta; Camporeale, Antonia; Bellocci, Fulvio; Neri, Giovanni; Coll Vidal, Monica; Partemi, Sara; Brugada, R.
1-gen-2012 Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions Santoro, Massimo; Masciullo, Marcella; Pietrobono, Roberta; Conte, G; Modoni, Anna; Bianchi, Maria Laura Ester; Rizzo, Valentina; Pomponi, Maria Grazia; Tasca, Giorgio; Neri, Giovanni; Silvestri, Gabriella
1-gen-2012 Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia. Garavelli, L.; Gargano, G.; Simonte, G.; Rosato, S.; Wischmeijer, A.; Melli, N.; Braisanti, S.; Gelmini, C.; Forzano, Francesca; Pietrobono, Roberta; Pomponi, Maria Grazia; Andreucci, E; Toutain, A.; Superti Furga, A.; Neri, Giovanni
1-gen-2011 The Simpson-Golabi-Behmel syndrome: a clinical case and a detective story Gurrieri, Fiorella; Pomponi, Maria Grazia; Pietrobono, Roberta; Lucci Cordisco, Emanuela; Silvestri, Evelina; Storniello, G; Neri, Giovanni
1-gen-2010 Unexpected finding of paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother Pomponi, Maria Grazia; Pietrobono, Roberta; Neri, Caterina; Chiurazzi, Pietro; Neri, Giovanni
1-gen-2009 A premature infant with Costello syndrome due to a rare G13C HRAS mutation Piccione, Maria; Pomponi, Maria Grazia; Pietrobono, Roberta; Neri, Giovanni
1-gen-2009 A premature infant with Costello syndrome due to a rare G13C HRAS mutation. Neri, Giovanni; Piccione, M; Piro, Maddalena; Pomponi, Maria Grazia; Pietrobono, Roberta; Candela, E; Gabriele, B; Corsello, Giovanni
1-gen-2008 A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy Tabolacci, Elisabetta; Pomponi, Maria Grazia; Pietrobono, Roberta; Chiurazzi, Pietro; Neri, Giovanni
1-gen-2002 Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1gene in fragile X cells treated with 5-aza-deoxycitidine Pietrobono, Roberta; Pomponi, Maria Grazia; Tabolacci, Elisabetta; Oostra, Ben; Chiurazzi, Pietro; Neri, Giovanni