FERRERO, Giovanni Battista

FERRERO, Giovanni Battista  

SCIENZE CLINICHE E BIOLOGICHE  

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(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 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
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.