Pietrobono, Roberta
Pietrobono, Roberta
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.
2019 Sangiorgi, Eugenio; Azzara', Alessia; Molinario, C; Pietrobono, Roberta; Rigante, Donato; Verrecchia, Elena; Sicignano, Ludovico Luca; Genuardi, Maurizio; Gurrieri, Fiorella; Manna, Raffaele
Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue
2017 Vaisfeld, Alessandro; Pomponi, Maria Grazia; Pietrobono, Roberta; Tabolacci, Elisabetta; Neri, Giovanni
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p.
2013 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.
Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions
2012 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
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.
2012 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
The Simpson-Golabi-Behmel syndrome: a clinical case and a detective story
2011 Gurrieri, Fiorella; Pomponi, Maria Grazia; Pietrobono, Roberta; Lucci Cordisco, Emanuela; Silvestri, Evelina; Storniello, G; Neri, Giovanni
Unexpected finding of paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother
2010 Pomponi, Maria Grazia; Pietrobono, Roberta; Neri, Caterina; Chiurazzi, Pietro; Neri, Giovanni
A premature infant with Costello syndrome due to a rare G13C HRAS mutation
2009 Piccione, Maria; Pomponi, Maria Grazia; Pietrobono, Roberta; Neri, Giovanni
A premature infant with Costello syndrome due to a rare G13C HRAS mutation.
2009 Neri, Giovanni; Piccione, M; Piro, Maddalena; Pomponi, Maria Grazia; Pietrobono, Roberta; Candela, E; Gabriele, B; Corsello, Giovanni
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy
2008 Tabolacci, Elisabetta; Pomponi, Maria Grazia; Pietrobono, Roberta; Chiurazzi, Pietro; Neri, Giovanni
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1gene in fragile X cells treated with 5-aza-deoxycitidine
2002 Pietrobono, Roberta; Pomponi, Maria Grazia; Tabolacci, Elisabetta; Oostra, Ben; Chiurazzi, Pietro; Neri, Giovanni
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2019 | Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. | Sangiorgi, Eugenio; Azzara', Alessia; Molinario, C; Pietrobono, Roberta; Rigante, Donato; Verrecchia, Elena; Sicignano, Ludovico Luca; Genuardi, Maurizio; Gurrieri, Fiorella; Manna, Raffaele | |
| 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 |