FERRERO, Giovanni Battista
FERRERO, Giovanni Battista
SCIENZE CLINICHE E BIOLOGICHE
(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
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: A paradigm for genomic medicine
2016-01-01 Mussa, A.; Russo, S.; Larizza, L.; Riccio, A.; Ferrero, G.B
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism
2012-01-01 Belligni, ELGA FABIA; DI GREGORIO, Eleonora; Biamino, Elisa; Calcia, Alessandro; Molinatto, Cristina; Talarico, Flavia; Ferrero, Giovanni Battista; Brusco, Alfredo; Cirillo, Margherita
A child with macrocephaly: case report of a patient with megalencephalicleukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene.
2011-01-01 Delmonaco AG; Gaidolfi E; Scheper GC; Girardo E; Molinatto C; Belligni E; Ferrero GB; Cirillo Silengo M; Van Der Knaap M.
A familial case of DD/ID variable psychiatric phenotype and optic atrophy due to a novel 1,5 Mb deletion on 2q29
2012-01-01 Belligni E; Biamino E; Molinatto C; Calcia A; Ferrero GB; Silengo M
A gene from the Xp22.3 region shares homology with voltage-gated chloride channels.
1994-01-01 van Slegtenhorst MA; Bassi MT; Borsani G; Wapenaar MC; Ferrero GB; de Conciliis L; Rugarli EI; Grillo A; Franco B; Zoghbi HY; Ballabio A.
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 high resolution deletion map of human chromosome Xp22.
1993-01-01 Schaefer L; Ferrero GB; Grillo A; Bassi MT; Roth EJ; Wapenaar MC; van Ommen GJ; Mohandas TK; Rocchi M; Zoghbi HY; Ballabio A.
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13.
2003-01-01 Morgan NV; Bacchelli C; Gissen P; Morton J; Ferrero GB; Silengo M; Labrune P; Casteels I; Hall C; Cox P; Kelly DA; Trembath RC; Scambler PJ; Maher ER; Goodman FR; Johnson CA.
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
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes
2016-01-01 Russo, Silvia; Calzari, Luciano; Mussa, Alessandro; Mainini, Ester; Cassina, Matteo; Di Candia, Stefania; Clementi, Maurizio; Guzzetti, Sara; Tabano, Silvia; Miozzo, Monica; Sirchia, Silvia; Finelli, Palma; Prontera, Paolo; Maitz, Silvia; Sorge, Giovanni; Calcagno, Annalisa; Maghnie, Mohamad; Divizia, Maria Teresa; Melis, Daniela; Manfredini, Emanuela; Ferrero, Giovanni Battista; Pecile, Vanna; Larizza, Lidia
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth
2021-01-01 Carli D.; Ferrero G.B.; Fusillo A.; Coppo P.; La Selva R.; Zinali F.; Cardaropoli S.; Ranieri C.; Iacoviello M.; Resta N.; Mussa A.
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity
2016-01-01 Biamino, Elisa; Di Gregorio, Eleonora; Belligni, Elga Fabia; Keller, Roberto; Riberi, Evelise; Gandione, Marina; Calcia, Alessandro; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Pappi, Patrizia; Talarico, Flavia; Fea, Antonio M; De Rubeis, Silvia; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Brusco, Alfredo
A novel H208D TP63 mutation in a familial case of ectrodactytly-ectodermal dysplasia-cleft lip/palate without clefting
2009-01-01 Sorasio L; Biamino E; Garelli E; Ferrero GB; Silengo MC.
A possible relationship between Beckwith-Wiedemann syndrome and prune belly syndrome.
2002-01-01 Silengo M; Barberis L; Ferrero GB; Sorasio L; Valenzise M.
A rare craniosynostosis associated with an atypical 22q11 microdeletion
2011-01-01 Molinatto C; Belligni E; Biamino E; Gaglini P; Calcia A; Di Gregorio E; Di Rocco C; Silengo M; Brusco A; Ferrero GB
A submicroscopic deletion in Xq26 associated with familial situs ambiguus.
1997-01-01 Ferrero GB; Gebbia M; Pilia G; Witte D; Peier A; Hopkin RJ; Craigen WJ; Shaffer LG; Schlessinger D; Ballabio A; Casey B
A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm
1993-01-01 Lee WC; Ferrero GB; Chinault AC; Yen PH; Ballabio A.
Adolescent gender dysphoria management: position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry
2024-01-01 Calcaterra, Valeria; Tornese, Gianluca; Zuccotti, Gianvincenzo; Staiano, Annamaria; Cherubini, Valentino; Gaudino, Rossella; Fazzi, Elisa Maria; Barbi, Egidio; Chiarelli, Francesco; Corsello, Giovanni; Esposito, Susanna Maria Roberta; Ferrara, Pietro; Iughetti, Lorenzo; Laforgia, Nicola; Maghnie, Mohamad; Marseglia, Gianluigi; Perilongo, Giorgio; Pettoello-Mantovani, Massimo; Ruggieri, Martino; Russo, Giovanna; Salerno, Mariacarolina; Striano, Pasquale; Valerio, Giuliana; Wasniewska, Malgorzata; null, null; Agosti, Massimo; Agostoni, Carlo Virginio; Aiuti, Alessandro; Azzari, Chiara; Badolato, Raffaele; Balduzzi, Adriana; Baraldi, Eugenio; Canani, Roberto Berni; Biffi, Alessandra; Biondi, Andrea; Bisogno, Gianni; Pierri, Nicola Brunetti; Carnielli, Virginio; Cianfarani, Stefano; Cogo, Paola; Corvaglia, Luigi; Dani, Carlo; Di Salvo, Giovanni; Fagioli, Franca; Fanos, Vassilios; Ferrero, Giovanni Battista; Francavilla, Ruggiero; Galli, Luisa; Gazzolo, Diego; Giaquinto, Carlo; Giordano, Paola; Gitto, Eloisa; Grosso, Salvatore; Guarino, Alfredo; Indrio, Flavia; Lanari, Marcello; Lionetti, Paolo; Locatelli, Franco; Lombardo, Fortunato; Maffeis, Claudio; Marino, Bruno; Midulla, Fabio; Del Giudice, Emanuele Miraglia; Del Giudice, Michele Miraglia; Montini, Giovanni; Parenti, Giancarlo; Parisi, Pasquale; Peroni, Diego; Perrotta, Silverio; Piacentini, Giorgio; Pietrobelli, Angelo; Raimondi, Francesco; Ramenghi, Ugo; Ravelli, Angelo; Romano, Claudio; Rossi, Francesca; Rossi, Paolo; Damiano, Vincenzo Salpietro; Spalice, Alberto; Suppiej, Agnese; Troncone, Riccardo; Verrotti, Alberto
Adult phenotype of Beckwith-Wiedemann syndrome
2019-01-01 Carli, D; Gazzin, A; Molinatto, C; Sirchia, F; Cardaropoli, S; Mussa, A; Ferrero, GB
| 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 | |
| (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: A paradigm for genomic medicine | 2016 | Mussa, A.; Russo, S.; Larizza, L.; Riccio, A.; Ferrero, G.B | |
| 790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism | 2012 | Belligni, ELGA FABIA; DI GREGORIO, Eleonora; Biamino, Elisa; Calcia, Alessandro; Molinatto, Cristina; Talarico, Flavia; Ferrero, Giovanni Battista; Brusco, Alfredo; Cirillo, Margherita | |
| A child with macrocephaly: case report of a patient with megalencephalicleukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene. | 2011 | Delmonaco AG; Gaidolfi E; Scheper GC; Girardo E; Molinatto C; Belligni E; Ferrero GB; Cirillo Silengo M; Van Der Knaap M. | |
| A familial case of DD/ID variable psychiatric phenotype and optic atrophy due to a novel 1,5 Mb deletion on 2q29 | 2012 | Belligni E; Biamino E; Molinatto C; Calcia A; Ferrero GB; Silengo M | |
| A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. | 1994 | van Slegtenhorst MA; Bassi MT; Borsani G; Wapenaar MC; Ferrero GB; de Conciliis L; Rugarli EI; Grillo A; Franco B; Zoghbi HY; Ballabio A. | |
| 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 high resolution deletion map of human chromosome Xp22. | 1993 | Schaefer L; Ferrero GB; Grillo A; Bassi MT; Roth EJ; Wapenaar MC; van Ommen GJ; Mohandas TK; Rocchi M; Zoghbi HY; Ballabio A. | |
| A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. | 2003 | Morgan NV; Bacchelli C; Gissen P; Morton J; Ferrero GB; Silengo M; Labrune P; Casteels I; Hall C; Cox P; Kelly DA; Trembath RC; Scambler PJ; Maher ER; Goodman FR; Johnson CA. | |
| 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 | |
| A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes | 2016 | Russo, Silvia; Calzari, Luciano; Mussa, Alessandro; Mainini, Ester; Cassina, Matteo; Di Candia, Stefania; Clementi, Maurizio; Guzzetti, Sara; Tabano, Silvia; Miozzo, Monica; Sirchia, Silvia; Finelli, Palma; Prontera, Paolo; Maitz, Silvia; Sorge, Giovanni; Calcagno, Annalisa; Maghnie, Mohamad; Divizia, Maria Teresa; Melis, Daniela; Manfredini, Emanuela; Ferrero, Giovanni Battista; Pecile, Vanna; Larizza, Lidia | |
| A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth | 2021 | Carli D.; Ferrero G.B.; Fusillo A.; Coppo P.; La Selva R.; Zinali F.; Cardaropoli S.; Ranieri C.; Iacoviello M.; Resta N.; Mussa A. | |
| A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity | 2016 | Biamino, Elisa; Di Gregorio, Eleonora; Belligni, Elga Fabia; Keller, Roberto; Riberi, Evelise; Gandione, Marina; Calcia, Alessandro; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Pappi, Patrizia; Talarico, Flavia; Fea, Antonio M; De Rubeis, Silvia; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Brusco, Alfredo | |
| A novel H208D TP63 mutation in a familial case of ectrodactytly-ectodermal dysplasia-cleft lip/palate without clefting | 2009 | Sorasio L; Biamino E; Garelli E; Ferrero GB; Silengo MC. | |
| A possible relationship between Beckwith-Wiedemann syndrome and prune belly syndrome. | 2002 | Silengo M; Barberis L; Ferrero GB; Sorasio L; Valenzise M. | |
| A rare craniosynostosis associated with an atypical 22q11 microdeletion | 2011 | Molinatto C; Belligni E; Biamino E; Gaglini P; Calcia A; Di Gregorio E; Di Rocco C; Silengo M; Brusco A; Ferrero GB | |
| A submicroscopic deletion in Xq26 associated with familial situs ambiguus. | 1997 | Ferrero GB; Gebbia M; Pilia G; Witte D; Peier A; Hopkin RJ; Craigen WJ; Shaffer LG; Schlessinger D; Ballabio A; Casey B | |
| A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm | 1993 | Lee WC; Ferrero GB; Chinault AC; Yen PH; Ballabio A. | |
| Adolescent gender dysphoria management: position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry | 2024 | Calcaterra, Valeria; Tornese, Gianluca; Zuccotti, Gianvincenzo; Staiano, Annamaria; Cherubini, Valentino; Gaudino, Rossella; Fazzi, Elisa Maria; Barbi, Egidio; Chiarelli, Francesco; Corsello, Giovanni; Esposito, Susanna Maria Roberta; Ferrara, Pietro; Iughetti, Lorenzo; Laforgia, Nicola; Maghnie, Mohamad; Marseglia, Gianluigi; Perilongo, Giorgio; Pettoello-Mantovani, Massimo; Ruggieri, Martino; Russo, Giovanna; Salerno, Mariacarolina; Striano, Pasquale; Valerio, Giuliana; Wasniewska, Malgorzata; null, null; Agosti, Massimo; Agostoni, Carlo Virginio; Aiuti, Alessandro; Azzari, Chiara; Badolato, Raffaele; Balduzzi, Adriana; Baraldi, Eugenio; Canani, Roberto Berni; Biffi, Alessandra; Biondi, Andrea; Bisogno, Gianni; Pierri, Nicola Brunetti; Carnielli, Virginio; Cianfarani, Stefano; Cogo, Paola; Corvaglia, Luigi; Dani, Carlo; Di Salvo, Giovanni; Fagioli, Franca; Fanos, Vassilios; Ferrero, Giovanni Battista; Francavilla, Ruggiero; Galli, Luisa; Gazzolo, Diego; Giaquinto, Carlo; Giordano, Paola; Gitto, Eloisa; Grosso, Salvatore; Guarino, Alfredo; Indrio, Flavia; Lanari, Marcello; Lionetti, Paolo; Locatelli, Franco; Lombardo, Fortunato; Maffeis, Claudio; Marino, Bruno; Midulla, Fabio; Del Giudice, Emanuele Miraglia; Del Giudice, Michele Miraglia; Montini, Giovanni; Parenti, Giancarlo; Parisi, Pasquale; Peroni, Diego; Perrotta, Silverio; Piacentini, Giorgio; Pietrobelli, Angelo; Raimondi, Francesco; Ramenghi, Ugo; Ravelli, Angelo; Romano, Claudio; Rossi, Francesca; Rossi, Paolo; Damiano, Vincenzo Salpietro; Spalice, Alberto; Suppiej, Agnese; Troncone, Riccardo; Verrotti, Alberto | |
| Adult phenotype of Beckwith-Wiedemann syndrome | 2019 | Carli, D; Gazzin, A; Molinatto, C; Sirchia, F; Cardaropoli, S; Mussa, A; Ferrero, GB |