BALDASSARRE, GIUSEPPINA
BALDASSARRE, GIUSEPPINA
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome
2016-01-01 Mussa, Alessandro; Russo, Silvia; De Crescenzo, Agostina; Freschi, Andrea; Calzari, Luciano; Maitz, Silvia; Macchiaiolo, Marina; Molinatto, Cristina; Baldassarre, Giuseppina; Mariani, Milena; Tarani, Luigi; Bedeschi, Maria Francesca; Milani, Donatella; Melis, Daniela; Bartuli, Andrea; Cubellis, Maria Vittoria; Selicorni, Angelo; Cirillo Silengo, Margherita; Larizza, Lidia; Riccio, Andrea; Ferrero, Giovanni Battista
A heritable cause of cleft lip and palate-Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.
2010-01-01 Ferrero GB; Baldassarre G; Panza E; Valenzise M; Pippucci T; Mussa A; Pepe E; Seri M; Silengo MC
a microduplication of the centromeric domain of the 11p15.5 impirnted gene cluster is associated with loss of DNA methylation and familial BWS.
2010-01-01 Chiesa N; De Crescenzo N; Mussa A; Baldassarre G; Perone L; Carella M; Cirillo Silengo M; Riccio A; Ferrero GB
Alpha-fetoprotein assay on dried blood spot for hepatoblastoma screening in children with overgrowth-cancer predisposition syndromes.
2014-01-01 Mussa A; Pagliardini S; Pagliardini V; Molinatto C; Baldassarre G; Corrias A; Silengo MC; Ferrero GB.
Analisi del profilo di trascrizione genetica nella sindrome di Noonan.
2010-01-01 Picco G; Cantarella D; Baldassarre G; Marinosci A; Dotta A; Isella C; Crescenzo N; Timeus F; Chiesa N; Merla G; Mazzanti L; Rossi C; Zampino G; Tartaglia M; Silengo M; Medico E; Ferrero GB.
Array-CGH analysis in a patient with Acrocallosal Syndrome
2009-01-01 Belligni EF; Ferrero GB; Vetro A; Chiesa N; Biamino E; Molinatto C; Baldassarre G; Zuffardi O; Silengo M
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome
2017-01-01 Mussa, Alessandro; Molinatto, Cristina; Cerrato, Flavia; Palumbo, Orazio; Carella, Massimo; Baldassarre, Giuseppina; Carli, Diana; Peris, Clementina; Riccio, Andrea; Ferrero, Giovanni Battista
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study
2020-01-01 Calcagni G.; Gagliostro G.; Limongelli G.; Unolt M.; De Luca E.; Digilio M.C.; Baban A.; Albanese S.B.; Ferrero G.B.; Baldassarre G.; Agnoletti G.; Banaudi E.; Marek J.; Kaski J.P.; Tuo G.; Marasini M.; Cairello F.; Madrigali A.; Pacileo G.; Russo M.G.; Milanesi O.; Formigari R.; Brighenti M.; Ragni L.; Donti A.; Drago F.; Dallapiccola B.; Tartaglia M.; Marino B.; Versacci P.
Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol.
2016-01-01 Mussa, Alessandro; Molinatto, Cristina; Baldassarre, Giuseppina; Riberi, Evelise; Russo, Silvia; Larizza, Lidia; Riccio, Andrea; Ferrero, Giovanni Battista
Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results
2017-01-01 Calcagni, Giulio; Limongelli, Giuseppe; D'Ambrosio, Angelo; Gesualdo, Francesco; Digilio, M Cristina; Baban, Anwar; Albanese, Sonia B; Versacci, Paolo; De Luca, Enrica; Ferrero, Giovanni B; Baldassarre, Giuseppina; Agnoletti, Gabriella; Banaudi, Elena; Marek, Jan; Kaski, Juan P; Tuo, Giulia; Russo, M Giovanna; Pacileo, Giuseppe; Milanesi, Ornella; Messina, Daniela; Marasini, Maurizio; Cairello, Francesca; Formigari, Roberto; Brighenti, Maurizio; Dallapiccola, Bruno; Tartaglia, Marco; Marino, Bruno
Case 1: An infant with heart failure (Discussion and Diagnosis)
2009-01-01 Ferrero GB; Nitschke Y; Pucci A; Barattia G; Baldassarre G; Rutsch F
Clinical and molecolar characterization of 40 patients with Noonan syndrome
2008-01-01 Ferrero GB; Baldassarre G; Delmonaco AG; Biamino E; Banaudi E; Carta C; Rossi C; Silengo M
Clinical and molecular characterization of a cohort of 49 children affected by Beckwith-Wiedemann Syndrome and related congenital defects
2008-01-01 Mussa A; Baldassarre G; Molinatto C; Peruzzi L; Pepe E; Riccio A; Cirillo Silengo M
Clinical and molecular characterization of Noonan Syndrome
2018-11-07
Comment on "prenatal diagnosis and prognosis in Noonan syndrome".
2013-01-01 Baldassarre G; Mussa A; Silengo M; Ferrero GB.
Congenital hypothyroidism, cerebellar atrophy and incomplete phenotipic expression of PHACES syndrome
2008-01-01 MUSSA A; CORRIAS A; BALDASSARRE G; BIAMINO E; CIRILLO M
Constitutional bone impairment in Noonan syndrome
2017-01-01 Baldassarre, Giuseppina; Mussa, Alessandro; Carli, Diana; Molinatto, Cristina; Ferrero, Giovanni Battista
Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results
2018-01-01 Calcagni, Giulio*; Limongelli, Giuseppe; D'Ambrosio, Angelo; Gesualdo, Francesco; Digilio, Maria Cristina; Baban, Anwar; Albanese, Sonia B.; Versacci, Paolo; De Luca, Enrica; Ferrero, Giovanni B.; Baldassarre, Giuseppina; Agnoletti, Gabriella; Banaudi, Elena; Marek, Jan; Kaski, Juan P.; Tuo, Giulia; Russo, Maria Giovanna; Pacileo, Giuseppe; Milanesi, Ornella; Messina, Daniela; Marasini, Maurizio; Cairello, Francesca; Formigari, Roberto; Brighenti, Maurizio; Dallapiccola, Bruno; Tartaglia, Marco; Marino, Bruno
Doppia Trisomia
2009-01-01 Molinatto C; Baldassarre G; Biamnio E; Marinosci A; Silengo M
Due nuove mutazioni di PTPN11 nella sindrome di Noonan
2006-01-01 Rossi C; Ferrari S; Ferrero GB; Delmonaco G; Baldassarre G; Belligni E; Banaudi E; Silengo M
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome | 2016 | Mussa, Alessandro; Russo, Silvia; De Crescenzo, Agostina; Freschi, Andrea; Calzari, Luciano; Maitz, Silvia; Macchiaiolo, Marina; Molinatto, Cristina; Baldassarre, Giuseppina; Mariani, Milena; Tarani, Luigi; Bedeschi, Maria Francesca; Milani, Donatella; Melis, Daniela; Bartuli, Andrea; Cubellis, Maria Vittoria; Selicorni, Angelo; Cirillo Silengo, Margherita; Larizza, Lidia; Riccio, Andrea; Ferrero, Giovanni Battista | |
| A heritable cause of cleft lip and palate-Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. | 2010 | Ferrero GB; Baldassarre G; Panza E; Valenzise M; Pippucci T; Mussa A; Pepe E; Seri M; Silengo MC | |
| a microduplication of the centromeric domain of the 11p15.5 impirnted gene cluster is associated with loss of DNA methylation and familial BWS. | 2010 | Chiesa N; De Crescenzo N; Mussa A; Baldassarre G; Perone L; Carella M; Cirillo Silengo M; Riccio A; Ferrero GB | |
| Alpha-fetoprotein assay on dried blood spot for hepatoblastoma screening in children with overgrowth-cancer predisposition syndromes. | 2014 | Mussa A; Pagliardini S; Pagliardini V; Molinatto C; Baldassarre G; Corrias A; Silengo MC; Ferrero GB. | |
| Analisi del profilo di trascrizione genetica nella sindrome di Noonan. | 2010 | Picco G; Cantarella D; Baldassarre G; Marinosci A; Dotta A; Isella C; Crescenzo N; Timeus F; Chiesa N; Merla G; Mazzanti L; Rossi C; Zampino G; Tartaglia M; Silengo M; Medico E; Ferrero GB. | |
| Array-CGH analysis in a patient with Acrocallosal Syndrome | 2009 | Belligni EF; Ferrero GB; Vetro A; Chiesa N; Biamino E; Molinatto C; Baldassarre G; Zuffardi O; Silengo M | |
| Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome | 2017 | Mussa, Alessandro; Molinatto, Cristina; Cerrato, Flavia; Palumbo, Orazio; Carella, Massimo; Baldassarre, Giuseppina; Carli, Diana; Peris, Clementina; Riccio, Andrea; Ferrero, Giovanni Battista | |
| Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study | 2020 | Calcagni G.; Gagliostro G.; Limongelli G.; Unolt M.; De Luca E.; Digilio M.C.; Baban A.; Albanese S.B.; Ferrero G.B.; Baldassarre G.; Agnoletti G.; Banaudi E.; Marek J.; Kaski J.P.; Tuo G.; Marasini M.; Cairello F.; Madrigali A.; Pacileo G.; Russo M.G.; Milanesi O.; Formigari R.; Brighenti M.; Ragni L.; Donti A.; Drago F.; Dallapiccola B.; Tartaglia M.; Marino B.; Versacci P. | |
| Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol. | 2016 | Mussa, Alessandro; Molinatto, Cristina; Baldassarre, Giuseppina; Riberi, Evelise; Russo, Silvia; Larizza, Lidia; Riccio, Andrea; Ferrero, Giovanni Battista | |
| Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results | 2017 | Calcagni, Giulio; Limongelli, Giuseppe; D'Ambrosio, Angelo; Gesualdo, Francesco; Digilio, M Cristina; Baban, Anwar; Albanese, Sonia B; Versacci, Paolo; De Luca, Enrica; Ferrero, Giovanni B; Baldassarre, Giuseppina; Agnoletti, Gabriella; Banaudi, Elena; Marek, Jan; Kaski, Juan P; Tuo, Giulia; Russo, M Giovanna; Pacileo, Giuseppe; Milanesi, Ornella; Messina, Daniela; Marasini, Maurizio; Cairello, Francesca; Formigari, Roberto; Brighenti, Maurizio; Dallapiccola, Bruno; Tartaglia, Marco; Marino, Bruno | |
| Case 1: An infant with heart failure (Discussion and Diagnosis) | 2009 | Ferrero GB; Nitschke Y; Pucci A; Barattia G; Baldassarre G; Rutsch F | |
| Clinical and molecolar characterization of 40 patients with Noonan syndrome | 2008 | Ferrero GB; Baldassarre G; Delmonaco AG; Biamino E; Banaudi E; Carta C; Rossi C; Silengo M | |
| Clinical and molecular characterization of a cohort of 49 children affected by Beckwith-Wiedemann Syndrome and related congenital defects | 2008 | Mussa A; Baldassarre G; Molinatto C; Peruzzi L; Pepe E; Riccio A; Cirillo Silengo M | |
| Clinical and molecular characterization of Noonan Syndrome | 2018 | - | |
| Comment on "prenatal diagnosis and prognosis in Noonan syndrome". | 2013 | Baldassarre G; Mussa A; Silengo M; Ferrero GB. | |
| Congenital hypothyroidism, cerebellar atrophy and incomplete phenotipic expression of PHACES syndrome | 2008 | MUSSA A; CORRIAS A; BALDASSARRE G; BIAMINO E; CIRILLO M | |
| Constitutional bone impairment in Noonan syndrome | 2017 | Baldassarre, Giuseppina; Mussa, Alessandro; Carli, Diana; Molinatto, Cristina; Ferrero, Giovanni Battista | |
| Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results | 2018 | Calcagni, Giulio*; Limongelli, Giuseppe; D'Ambrosio, Angelo; Gesualdo, Francesco; Digilio, Maria Cristina; Baban, Anwar; Albanese, Sonia B.; Versacci, Paolo; De Luca, Enrica; Ferrero, Giovanni B.; Baldassarre, Giuseppina; Agnoletti, Gabriella; Banaudi, Elena; Marek, Jan; Kaski, Juan P.; Tuo, Giulia; Russo, Maria Giovanna; Pacileo, Giuseppe; Milanesi, Ornella; Messina, Daniela; Marasini, Maurizio; Cairello, Francesca; Formigari, Roberto; Brighenti, Maurizio; Dallapiccola, Bruno; Tartaglia, Marco; Marino, Bruno | |
| Doppia Trisomia | 2009 | Molinatto C; Baldassarre G; Biamnio E; Marinosci A; Silengo M | |
| Due nuove mutazioni di PTPN11 nella sindrome di Noonan | 2006 | Rossi C; Ferrari S; Ferrero GB; Delmonaco G; Baldassarre G; Belligni E; Banaudi E; Silengo M |