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.
Adult phenotype of Beckwith-Wiedemann syndrome
2019-01-01 Carli, D; Gazzin, A; Molinatto, C; Sirchia, F; Cardaropoli, S; Mussa, A; Ferrero, GB
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome
2006-01-01 SORASIO L; FERRERO G; GARELLI E; BRUNELLO G; MARTANO C; CARANDO A; BELLIGNI E; DIANZANI I; CIRILLO 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 | |
(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. | |
Adult phenotype of Beckwith-Wiedemann syndrome | 2019 | Carli, D; Gazzin, A; Molinatto, C; Sirchia, F; Cardaropoli, S; Mussa, A; Ferrero, GB | |
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome | 2006 | SORASIO L; FERRERO G; GARELLI E; BRUNELLO G; MARTANO C; CARANDO A; BELLIGNI E; DIANZANI I; CIRILLO SILENGO M |