Pomponi, Maria Grazia
Pomponi, Maria Grazia
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis
2018 Lattante, Serena; Pomponi, Maria Grazia; Conte, Amelia; Marangi, Giuseppe; Bisogni, Giulia; Patanella, Agata Katia; Meleo, Emiliana; Lunetta, Christian; Riva, Nilo; Mosca, Lorena; Carrera, Paola; Bee, Marco; Zollino, Marcella; Sabatelli, Mario
Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2
2018 Rossi, Salvatore; Romano, Angela; Modoni, Anna; Perna, Francesco; Rizzo, Valentina; Santoro, Massimo; Monforte, Mauro; Pieroni, Maurizio; Luigetti, Marco; Pomponi, Maria Grazia; Silvestri, Gabriella
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes.
2018 Ravegnini, G; Quero, Giuseppe; Sammarini, G; Giustiniani, Maria Cristina; Castri, Federica; Pomponi, Maria Grazia; Angelini, S; Alfieri, Sergio; Genuardi, Maurizio; Zamboni, G; Ricci, R.
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
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use
2017 D'Ippolito, Silvia; Di Simone, Nicoletta; Orteschi, Daniela; Pomponi, Maria Grazia; Genuardi, Maurizio; Sisti, Leuconoe Grazia; Castellani, Roberta; Rossi, Esther; Scambia, Giovanni; Zollino, Marcella
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use.
2017 D'Ippolito, Silvia; Di Simone, Nicoletta; Orteschi, Daniela; Pomponi, Maria Grazia; Genuardi, Maurizio; Sisti, Leuconoe Grazia; Castellani, Roberta; Rossi, Ed; Scambia, Giovanni; Zollino, Marcella
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
Cardio-Facio-cutaneous syndrome: phenotypic variability and differential diagnosis in 3 cases with de novo BRAF mutations
2011 Neri, Giovanni; Mancano, Giorgia; Pomponi, Maria Grazia; Ozcelik, A; Gucuyener, K.
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 new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies.
2008 Luigetti, Marco; Conte, Amelia; Madia, Francesca; Mereu, Maria Lucia; Zollino, Marcella; Marangi, Giuseppe; Pomponi, Maria Grazia; Liberatore, Giuseppe; Tonali, Pietro Attilio; Sabatelli, Mario
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
Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome
2004 Chiurazzi, Pietro; Bajer, Jolanta Alina; Tabolacci, Elisabetta; Pomponi, Maria Grazia; Lecce, Rosetta; Zollino, Marcella; 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
L-acetylcarnitine treatment on fragile X patients hyperactive behaviour
2001 Calvani, M; D'Iddio, S; De Gaetano, A; Mariotti, Paolo; Mosconi, Luigi; Pomponi, Maria Grazia; Tabolacci, Elisabetta; Torrioli, Maria Giulia; Vernacotola, Silvia; Neri, Giovanni
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2018 | ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis | Lattante, Serena; Pomponi, Maria Grazia; Conte, Amelia; Marangi, Giuseppe; Bisogni, Giulia; Patanella, Agata Katia; Meleo, Emiliana; Lunetta, Christian; Riva, Nilo; Mosca, Lorena; Carrera, Paola; Bee, Marco; Zollino, Marcella; Sabatelli, Mario | |
| 1-gen-2018 | Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2 | Rossi, Salvatore; Romano, Angela; Modoni, Anna; Perna, Francesco; Rizzo, Valentina; Santoro, Massimo; Monforte, Mauro; Pieroni, Maurizio; Luigetti, Marco; Pomponi, Maria Grazia; Silvestri, Gabriella | |
| 1-gen-2018 | Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes. | Ravegnini, G; Quero, Giuseppe; Sammarini, G; Giustiniani, Maria Cristina; Castri, Federica; Pomponi, Maria Grazia; Angelini, S; Alfieri, Sergio; Genuardi, Maurizio; Zamboni, G; Ricci, 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-2017 | The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use | D'Ippolito, Silvia; Di Simone, Nicoletta; Orteschi, Daniela; Pomponi, Maria Grazia; Genuardi, Maurizio; Sisti, Leuconoe Grazia; Castellani, Roberta; Rossi, Esther; Scambia, Giovanni; Zollino, Marcella | |
| 1-gen-2017 | The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use. | D'Ippolito, Silvia; Di Simone, Nicoletta; Orteschi, Daniela; Pomponi, Maria Grazia; Genuardi, Maurizio; Sisti, Leuconoe Grazia; Castellani, Roberta; Rossi, Ed; Scambia, Giovanni; Zollino, Marcella | |
| 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 | Cardio-Facio-cutaneous syndrome: phenotypic variability and differential diagnosis in 3 cases with de novo BRAF mutations | Neri, Giovanni; Mancano, Giorgia; Pomponi, Maria Grazia; Ozcelik, A; Gucuyener, K. | |
| 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 new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies. | Luigetti, Marco; Conte, Amelia; Madia, Francesca; Mereu, Maria Lucia; Zollino, Marcella; Marangi, Giuseppe; Pomponi, Maria Grazia; Liberatore, Giuseppe; Tonali, Pietro Attilio; Sabatelli, Mario | |
| 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-2004 | Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome | Chiurazzi, Pietro; Bajer, Jolanta Alina; Tabolacci, Elisabetta; Pomponi, Maria Grazia; Lecce, Rosetta; Zollino, Marcella; 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 | |
| 1-gen-2001 | L-acetylcarnitine treatment on fragile X patients hyperactive behaviour | Calvani, M; D'Iddio, S; De Gaetano, A; Mariotti, Paolo; Mosconi, Luigi; Pomponi, Maria Grazia; Tabolacci, Elisabetta; Torrioli, Maria Giulia; Vernacotola, Silvia; Neri, Giovanni |