Sfoglia per Autore
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
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
Four new cases of PHACES syndrome: variable phenotypic expression and endocrinefeatures
2008-01-01 Mussa A; Baldassarre G; Rosaia De Santis L; Gastaldi R; Corrias A; Silengo MC.
Congenital hypothyroidism, cerebellar atrophy and incomplete phenotipic expression of PHACES syndrome
2008-01-01 MUSSA A; CORRIAS A; BALDASSARRE G; BIAMINO E; CIRILLO M
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
Doppia Trisomia
2009-01-01 Molinatto C; Baldassarre G; Biamnio E; Marinosci A; Silengo M
Transcriptional hallmarks of Noonan syndrome in peripheral blood mononuclear cells
2009-01-01 Ferrero GB; Cantarella D; Baldassarre G; Isella C; Crescenzio N; Pagliano S; Silengo M; Medico E
Genotypic and phenotypic spectrum of 44 patients with Noonan syndrome
2009-01-01 Baldassarre G; Rossi C; Chiesa N; Mussa A; Marinosci A; Tartaglia M; Silengo M; 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
Molecular and clinical characterization of 37 patients with Noonan syndrome
2009-01-01 Baldassarre G; Rossi C; Tartaglia M; Carta C; Banaudi E; Chiesa N; Silengo MC; Ferrero GB
Molecular dissection of Noonan syndrome by transcriptiome analysis
2009-01-01 Ferrero GB; Cantarella D; Baldassarre G; Isella C; Crescenzo N; Timeus F; Chiesa N; Merla G; Mazzanti L; Rossi C; Zampino G; Tartaglia M; Silengo M; Medico E
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
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
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.
Myhre syndrome. report of three unrelated patients
2010-01-01 Belligni E; Biamino E; Molinatto C;Baldassarre G; Marinosci A; Ferrero GB; Silengo M
Eyebrow anomalies as a diagnostic sign of genomic disorders
2010-01-01 Silengo M; Belligni E; Molinatto C; Baldassarre G; Biamino E; Chiesa N; Zuffardi O; Girirajan S; Eichler EE; Ferrero GB
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
The overlap between Sotos and Beckwith-Wiedemann syndromes
2010-01-01 Mussa A; Chiesa N; Porta F; Baldassarre G; Silengo MC; Ferrero GB.
Prenatal features of Noonan syndrome: prevalence and prognostic value.
2011-01-01 Baldassarre G; Mussa A; Dotta A; Banaudi E; Forzano S; Marinosci A; Rossi C; Tartaglia M; Silengo M; Ferrero GB.
SOS1 mutations in Noonan syndrome:molecular spectrum, structural insights on pathogenic effects, andgenotype-phenotype correlations.
2011-01-01 Lepri F; De Luca A; Stella L; Rossi C; Baldassarre G; Pantaleoni F; Cordeddu V; Williams BJ; Dentici ML; Caputo V; Venanzi S; Bonaguro M; Kavamura I; Faienza MF; Pilotta A; Stanzial F; Faravelli F; Gabrielli O; Marino B; Neri G; Silengo MC; Ferrero GB; Torrrente I; Selicorni A; Mazzanti L; Digilio MC; Zampino G; Dallapiccola B; Gelb BD; Tartaglia M.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| 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 | |
| Four new cases of PHACES syndrome: variable phenotypic expression and endocrinefeatures | 2008 | Mussa A; Baldassarre G; Rosaia De Santis L; Gastaldi R; Corrias A; Silengo MC. | |
| Congenital hypothyroidism, cerebellar atrophy and incomplete phenotipic expression of PHACES syndrome | 2008 | MUSSA A; CORRIAS A; BALDASSARRE G; BIAMINO E; CIRILLO M | |
| 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 | |
| Doppia Trisomia | 2009 | Molinatto C; Baldassarre G; Biamnio E; Marinosci A; Silengo M | |
| Transcriptional hallmarks of Noonan syndrome in peripheral blood mononuclear cells | 2009 | Ferrero GB; Cantarella D; Baldassarre G; Isella C; Crescenzio N; Pagliano S; Silengo M; Medico E | |
| Genotypic and phenotypic spectrum of 44 patients with Noonan syndrome | 2009 | Baldassarre G; Rossi C; Chiesa N; Mussa A; Marinosci A; Tartaglia M; Silengo M; 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 | |
| Molecular and clinical characterization of 37 patients with Noonan syndrome | 2009 | Baldassarre G; Rossi C; Tartaglia M; Carta C; Banaudi E; Chiesa N; Silengo MC; Ferrero GB | |
| Molecular dissection of Noonan syndrome by transcriptiome analysis | 2009 | Ferrero GB; Cantarella D; Baldassarre G; Isella C; Crescenzo N; Timeus F; Chiesa N; Merla G; Mazzanti L; Rossi C; Zampino G; Tartaglia M; Silengo M; Medico E | |
| Case 1: An infant with heart failure (Discussion and Diagnosis) | 2009 | Ferrero GB; Nitschke Y; Pucci A; Barattia G; Baldassarre G; Rutsch F | |
| 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 | |
| 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. | |
| Myhre syndrome. report of three unrelated patients | 2010 | Belligni E; Biamino E; Molinatto C;Baldassarre G; Marinosci A; Ferrero GB; Silengo M | |
| Eyebrow anomalies as a diagnostic sign of genomic disorders | 2010 | Silengo M; Belligni E; Molinatto C; Baldassarre G; Biamino E; Chiesa N; Zuffardi O; Girirajan S; Eichler EE; Ferrero GB | |
| 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 | |
| The overlap between Sotos and Beckwith-Wiedemann syndromes | 2010 | Mussa A; Chiesa N; Porta F; Baldassarre G; Silengo MC; Ferrero GB. | |
| Prenatal features of Noonan syndrome: prevalence and prognostic value. | 2011 | Baldassarre G; Mussa A; Dotta A; Banaudi E; Forzano S; Marinosci A; Rossi C; Tartaglia M; Silengo M; Ferrero GB. | |
| SOS1 mutations in Noonan syndrome:molecular spectrum, structural insights on pathogenic effects, andgenotype-phenotype correlations. | 2011 | Lepri F; De Luca A; Stella L; Rossi C; Baldassarre G; Pantaleoni F; Cordeddu V; Williams BJ; Dentici ML; Caputo V; Venanzi S; Bonaguro M; Kavamura I; Faienza MF; Pilotta A; Stanzial F; Faravelli F; Gabrielli O; Marino B; Neri G; Silengo MC; Ferrero GB; Torrrente I; Selicorni A; Mazzanti L; Digilio MC; Zampino G; Dallapiccola B; Gelb BD; Tartaglia M. |
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