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 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
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
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
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
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.
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
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.
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.
Incidence of Beckwith-Wiedemann syndrome
2012-01-01 Molinatto C; Mussa A; De Crescenzo N; Chiesa N; Baldassarre G; Selicorni A; Russo S; Riccio A; Silengo M; Ferrero GB.
Extreme clinical variability in Noonan syndrome with loose anagen hair due to Ser2Gly SHOC mutation
2012-01-01 Baldassarre G; Rossi C; Tartaglia M; Silengo M; Ferrero GB.
Transcriptional hallmarks of noonan syndrome and noonan-like syndrome with loose anagen hair
2012-01-01 Ferrero GB; Picco G; Baldassarre G; Flex E; Isella C; Cantarella D; Corà D; Chiesa N; Crescenzio N; Timeus F; Merla G; Mazzanti L; Zampino G; Rossi C; Silengo M; Tartaglia M; Medico E.
Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome.
2012-01-01 Mussa A; Peruzzi L; Chiesa N; De Crescenzo A; Russo S; Melis D; Tarani L; Baldassarre G; Larizza L; Riccio A; Silengo M; Ferrero GB.
Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome
2013-01-01 Timeus F; Crescenzio N; Baldassarre G; Doria A; Vallero S; Foglia L; Pagliano S; Rossi C; Silengo MC; Ramenghi U; Fagioli F; Cordero di Montezemolo L; Ferrero GB
Comment on "prenatal diagnosis and prognosis in Noonan syndrome".
2013-01-01 Baldassarre G; Mussa A; Silengo M; Ferrero GB.
Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation
2014-01-01 Baldassarre G; Mussa A; Banaudi E; Rossi C; Tartaglia M; Silengo M; Ferrero GB
Fracture odds and body mass index in children
2014-01-01 Mussa, Alessandro; Baldassarre, Giuseppina; Porta, Francesco
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.
Genealogy of breastfeeding
2016-01-01 Porta, Francesco; Mussa, Alessandro; Baldassarre, Giuseppina; Perduca, Vittorio; Farina, Daniele; Spada, Marco; Ponzone, Alberto
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
Fetal growth patterns in Beckwith-Wiedemann syndrome
2016-01-01 Mussa, A; Russo, S.; de Crescenzo, A.; Freschi, A.; Calzari, L.; Maitz, S.; Macchiaiolo, M.; Molinatto, C.; Baldassarre, G.; Mariani, M.; Tarani, L.; Bedeschi, M.F.; Milani, D.; Melis, D.; Bartuli, A.; Cubellis, M.V.; Selicorni, A.; Silengo, M.C.; Larizza, L.; Riccio, A.; Ferrero, G.B.
(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
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
Constitutional bone impairment in Noonan syndrome
2017-01-01 Baldassarre, Giuseppina; Mussa, Alessandro; Carli, Diana; Molinatto, Cristina; Ferrero, Giovanni Battista
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
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome
2017-01-01 Pannone, Luca; Bocchinfuso, Gianfranco; Flex, Elisabetta; Rossi, Cesare; Baldassarre, Giuseppina; Lissewski, Christina; Pantaleoni, Francesca; Consoli, Federica; Lepri, Francesca; Magliozzi, Monia; Anselmi, Massimiliano; Delle Vigne, Silvia; Sorge, Giovanni; Karaer, Kadri; Cuturilo, Goran; Sartorio, Alessandro; Tinschert, Sigrid; Accadia, Maria; Digilio, Maria C.; Zampino, Giuseppe; De Luca, Alessandro; Cavé, Hélène; Zenker, Martin; Gelb, Bruce D.; Dallapiccola, Bruno; Stella, Lorenzo; Ferrero, Giovanni B.; Martinelli, Simone; Tartaglia, Marco
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
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations
2019-01-01 Carli, Diana; Giorgio, Elisa; Pantaleoni, Francesca; Bruselles, Alessandro; Barresi, Sabina; Riberi, Evelise; Licciardi, Francesco; Gazzin, Andrea; Baldassarre, Giuseppina; Pizzi, Simone; Niceta, Marcello; Radio, Francesca Clementina; Molinatto, Cristina; Montin, Davide; Calvo, Pier Luigi; Ciolfi, Andrea; Fleischer, Nicole; Ferrero, Giovanni Battista; Brusco, Alfredo; Tartaglia, Marco
ECG in Noonan syndrome: Beyond the “normal abnormalities”
2019-01-01 Mazza G.A.; Banaudi E.; Ferrero G.B.; Baldassarre G.; Agnoletti G.
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.
| 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 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 | |
| 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 | |
| Case 1: An infant with heart failure (Discussion and Diagnosis) | 2009 | Ferrero GB; Nitschke Y; Pucci A; Barattia G; Baldassarre G; Rutsch F | |
| 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 | |
| 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. | |
| 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 | |
| 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. | |
| 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. | |
| Incidence of Beckwith-Wiedemann syndrome | 2012 | Molinatto C; Mussa A; De Crescenzo N; Chiesa N; Baldassarre G; Selicorni A; Russo S; Riccio A; Silengo M; Ferrero GB. | |
| Extreme clinical variability in Noonan syndrome with loose anagen hair due to Ser2Gly SHOC mutation | 2012 | Baldassarre G; Rossi C; Tartaglia M; Silengo M; Ferrero GB. | |
| Transcriptional hallmarks of noonan syndrome and noonan-like syndrome with loose anagen hair | 2012 | Ferrero GB; Picco G; Baldassarre G; Flex E; Isella C; Cantarella D; Corà D; Chiesa N; Crescenzio N; Timeus F; Merla G; Mazzanti L; Zampino G; Rossi C; Silengo M; Tartaglia M; Medico E. | |
| Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome. | 2012 | Mussa A; Peruzzi L; Chiesa N; De Crescenzo A; Russo S; Melis D; Tarani L; Baldassarre G; Larizza L; Riccio A; Silengo M; Ferrero GB. | |
| Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome | 2013 | Timeus F; Crescenzio N; Baldassarre G; Doria A; Vallero S; Foglia L; Pagliano S; Rossi C; Silengo MC; Ramenghi U; Fagioli F; Cordero di Montezemolo L; Ferrero GB | |
| Comment on "prenatal diagnosis and prognosis in Noonan syndrome". | 2013 | Baldassarre G; Mussa A; Silengo M; Ferrero GB. | |
| Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation | 2014 | Baldassarre G; Mussa A; Banaudi E; Rossi C; Tartaglia M; Silengo M; Ferrero GB | |
| Fracture odds and body mass index in children | 2014 | Mussa, Alessandro; Baldassarre, Giuseppina; Porta, Francesco | |
| 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. | |
| Genealogy of breastfeeding | 2016 | Porta, Francesco; Mussa, Alessandro; Baldassarre, Giuseppina; Perduca, Vittorio; Farina, Daniele; Spada, Marco; Ponzone, Alberto | |
| 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 | |
| Fetal growth patterns in Beckwith-Wiedemann syndrome | 2016 | Mussa, A; Russo, S.; de Crescenzo, A.; Freschi, A.; Calzari, L.; Maitz, S.; Macchiaiolo, M.; Molinatto, C.; Baldassarre, G.; Mariani, M.; Tarani, L.; Bedeschi, M.F.; Milani, D.; Melis, D.; Bartuli, A.; Cubellis, M.V.; Selicorni, A.; Silengo, M.C.; Larizza, L.; Riccio, A.; Ferrero, G.B. | |
| (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 | |
| 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 | |
| Constitutional bone impairment in Noonan syndrome | 2017 | Baldassarre, Giuseppina; Mussa, Alessandro; Carli, Diana; Molinatto, Cristina; Ferrero, Giovanni Battista | |
| 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 | |
| Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome | 2017 | Pannone, Luca; Bocchinfuso, Gianfranco; Flex, Elisabetta; Rossi, Cesare; Baldassarre, Giuseppina; Lissewski, Christina; Pantaleoni, Francesca; Consoli, Federica; Lepri, Francesca; Magliozzi, Monia; Anselmi, Massimiliano; Delle Vigne, Silvia; Sorge, Giovanni; Karaer, Kadri; Cuturilo, Goran; Sartorio, Alessandro; Tinschert, Sigrid; Accadia, Maria; Digilio, Maria C.; Zampino, Giuseppe; De Luca, Alessandro; Cavé, Hélène; Zenker, Martin; Gelb, Bruce D.; Dallapiccola, Bruno; Stella, Lorenzo; Ferrero, Giovanni B.; Martinelli, Simone; Tartaglia, Marco | |
| 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 | |
| NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations | 2019 | Carli, Diana; Giorgio, Elisa; Pantaleoni, Francesca; Bruselles, Alessandro; Barresi, Sabina; Riberi, Evelise; Licciardi, Francesco; Gazzin, Andrea; Baldassarre, Giuseppina; Pizzi, Simone; Niceta, Marcello; Radio, Francesca Clementina; Molinatto, Cristina; Montin, Davide; Calvo, Pier Luigi; Ciolfi, Andrea; Fleischer, Nicole; Ferrero, Giovanni Battista; Brusco, Alfredo; Tartaglia, Marco | |
| ECG in Noonan syndrome: Beyond the “normal abnormalities” | 2019 | Mazza G.A.; Banaudi E.; Ferrero G.B.; Baldassarre G.; Agnoletti G. | |
| 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. |
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