PESCUCCI, CHIARA
PESCUCCI, CHIARA
DPT. BIOLOGIA MOLECOLARE (attivo dal 01/01/1900 al 31/10/2012)
2q24-q31 deletion: report of a case and review of the literature
2007-01-01 Pescucci, C.; Caselli, R.; Grosso, S.; Mencarelli, M. A.; Mari, F.; Farnetani, M. A.; Piccini, B.; Artuso, R.; Bruttini, M.; Priolo, M.; Zuffardi, O.; Gimelli, S.; Balestri, P.; Renieri, A.
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears
2007-01-01 Caselli, R.; Mencarelli, M. A.; Papa, F. T.; Uliana, V.; Schiavone, S.; Strambi, M.; Pescucci, C.; Ariani, F.; Rossi, V.; Longo, I.; Meloni, I.; Renieri, A.; Mari, F.
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome
2005-01-01 Mari, F.; Azimonti, S.; Bertani, I.; Bolognese, F.; Colombo, E.; Caselli, R.; Scala, E.; Longo, I.; Grosso, S.; Pescucci, C.; Ariani, F.; Hayek, G.; Balestri, P.; Bergo, A.; Badaracco, G.; Zappella, M.; Broccoli, V.; Renieri, A.; Kilstrup-Nielsen, C.; Landsberger, N.
Germline mosaicism in Rett syndrome identified by prenatal diagnosis
2005-01-01 Mari, F.; Caselli, R.; Russo, S.; Cogliati, F.; Ariani, F.; Longo, I.; Bruttini, M.; Meloni, I.; Pescucci, C.; Schurfeld, K.; Toti, P.; Tassini, M.; Larizza, L.; Hayek, G.; Zappella, M.; Renieri, A.
Is Rett syndrome a loss-of-imprinting disorder?
2005-01-01 Pescucci, Chiara; Meloni, Ilaria; Renieri, Alessandra
Molecular dissection using array comparative genomic hybridization and clinical evaluation of an infertile male carrier of an unbalanced Y;21 traslocation:A case report and rewiew of the literature
2016-01-01 Orrico, Alfredo; Marseglia, ; Pescucci, Chiara; Cortesi, A; Piomboni, Paola; Giansanti, A; Gerundino, Francesca; Ponchietti, Roberto
| Titolo | Data di pubblicazione | Autore(i) | File | Abstract |
|---|---|---|---|---|
| 2q24-q31 deletion: report of a case and review of the literature | 1-gen-2007 | Pescucci, C.; Caselli, R.; Grosso, S.; Mencarelli, M. A.; Mari, F.; Farnetani, M. A.; Piccini, B.; Artuso, R.; Bruttini, M.; Priolo, M.; Zuffardi, O.; Gimelli, S.; Balestri, P.; Renieri, A. | - | |
| A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears | 1-gen-2007 | Caselli, R.; Mencarelli, M. A.; Papa, F. T.; Uliana, V.; Schiavone, S.; Strambi, M.; Pescucci, C.; Ariani, F.; Rossi, V.; Longo, I.; Meloni, I.; Renieri, A.; Mari, F. | - | |
| CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome | 1-gen-2005 | Mari, F.; Azimonti, S.; Bertani, I.; Bolognese, F.; Colombo, E.; Caselli, R.; Scala, E.; Longo, I.; Grosso, S.; Pescucci, C.; Ariani, F.; Hayek, G.; Balestri, P.; Bergo, A.; Badaracco, G.; Zappella, M.; Broccoli, V.; Renieri, A.; Kilstrup-Nielsen, C.; Landsberger, N. | - | |
| Germline mosaicism in Rett syndrome identified by prenatal diagnosis | 1-gen-2005 | Mari, F.; Caselli, R.; Russo, S.; Cogliati, F.; Ariani, F.; Longo, I.; Bruttini, M.; Meloni, I.; Pescucci, C.; Schurfeld, K.; Toti, P.; Tassini, M.; Larizza, L.; Hayek, G.; Zappella, M.; Renieri, A. | - | |
| Is Rett syndrome a loss-of-imprinting disorder? | 1-gen-2005 | Pescucci, Chiara; Meloni, Ilaria; Renieri, Alessandra | - | |
| Molecular dissection using array comparative genomic hybridization and clinical evaluation of an infertile male carrier of an unbalanced Y;21 traslocation:A case report and rewiew of the literature | 1-gen-2016 | Orrico, Alfredo; Marseglia, ; Pescucci, Chiara; Cortesi, A; Piomboni, Paola; Giansanti, A; Gerundino, Francesca; Ponchietti, Roberto | - |