Ponzi, Emanuela
Ponzi, Emanuela
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients
2015 Zollino, Marcella; Marangi, Giuseppe; Ponzi, Emanuela; Orteschi, Daniela; Ricciardi, Stefania; Lattante, Serena; Murdolo, Marina; Battaglia, Domenica Immacolata; Contaldo, Ilaria; Mercuri, Eugenio Maria; Stefanini, Mc; Caumes, R; Edery, P; Rossi, M; Piccione, M; Corsello, G; Della Monica, M; Scarano, F; Priolo, M; Gentile, M; Zampino, Giuseppe; Vijzelaar, R; Abdulrahman, O; Rauch, A; Oneda, B; Deardorff, Ma; Saitta, Sc; Falk, Mj; Dubbs, H; Zackai, E.
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome
2015 Cafiero, C; Marangi, Giuseppe; Orteschi, Daniela; Ali, M; Asaro, Alessia; Ponzi, Emanuela; Moncada, Alice; Ricciardi, Stefania; Murdolo, Marina; Mancano, Giorgia; Contaldo, Ilaria; Leuzzi, V; Battaglia, Domenica Immacolata; Mercuri, Eugenio Maria; Slavotinek, Am; Zollino, Marcella
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype
2015 Gurrieri, Fiorella; Ponzi, Emanuela; Asaro, Alessia; Orteschi, Daniela; Genuardi, Maurizio; Zollino, Marcella
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype.
2015 Ponzi, Emanuela; Asaro, Alessia; Orteschi, Daniela; Genuardi, Maurizio; Zollino, Marcella; Guerrieri, Fiorella
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype.
2015 Ponzi, Emanuela; Asaro, Alessia; Orteschi, Daniela; Genuardi, Maurizio; Zollino, Marcella; Guerrieri, Fiorella
The ring 14 syndrome
2012 Zollino, Marcella; Ponzi, Emanuela; Gobbi, G; Neri, Giovanni
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2015 | Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients | Zollino, Marcella; Marangi, Giuseppe; Ponzi, Emanuela; Orteschi, Daniela; Ricciardi, Stefania; Lattante, Serena; Murdolo, Marina; Battaglia, Domenica Immacolata; Contaldo, Ilaria; Mercuri, Eugenio Maria; Stefanini, Mc; Caumes, R; Edery, P; Rossi, M; Piccione, M; Corsello, G; Della Monica, M; Scarano, F; Priolo, M; Gentile, M; Zampino, Giuseppe; Vijzelaar, R; Abdulrahman, O; Rauch, A; Oneda, B; Deardorff, Ma; Saitta, Sc; Falk, Mj; Dubbs, H; Zackai, E. | |
| 1-gen-2015 | Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome | Cafiero, C; Marangi, Giuseppe; Orteschi, Daniela; Ali, M; Asaro, Alessia; Ponzi, Emanuela; Moncada, Alice; Ricciardi, Stefania; Murdolo, Marina; Mancano, Giorgia; Contaldo, Ilaria; Leuzzi, V; Battaglia, Domenica Immacolata; Mercuri, Eugenio Maria; Slavotinek, Am; Zollino, Marcella | |
| 1-gen-2015 | Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype | Gurrieri, Fiorella; Ponzi, Emanuela; Asaro, Alessia; Orteschi, Daniela; Genuardi, Maurizio; Zollino, Marcella | |
| 1-gen-2015 | Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype. | Ponzi, Emanuela; Asaro, Alessia; Orteschi, Daniela; Genuardi, Maurizio; Zollino, Marcella; Guerrieri, Fiorella | |
| 1-gen-2015 | Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype. | Ponzi, Emanuela; Asaro, Alessia; Orteschi, Daniela; Genuardi, Maurizio; Zollino, Marcella; Guerrieri, Fiorella | |
| 1-gen-2012 | The ring 14 syndrome | Zollino, Marcella; Ponzi, Emanuela; Gobbi, G; Neri, Giovanni |