BIAMINO, ELISA
BIAMINO, ELISA
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
7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages
2015-01-01 Adamo A; Atashpaz S; Germain PL; Zanella M; D'Agostino G; Albertin V; Chenoweth J; Micale L; Fusco C; Unger C; Augello B; Palumbo O; Hamilton B; Carella M; Donti E; Pruneri G; Selicorni A; Biamino E; Prontera P; McKay R; Merla G; Testa G
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 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 COLEC10 mutation in a child with 3MC syndrome
2021-01-01 Martina Migliorero, Silvia Kalantari, Valeria Bracciamà, Monica Sorbini, Francesca Arruga, Licia Peruzzi, Elisa Biamino, Antonio Amoroso, Tiziana Vaisitti, Silvia Deaglio
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 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 restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome
2012-01-01 Caputo V; Cianetti L; Niceta M; Carta C; Ciolfi A; Bocchinfuso G; Carrani E; Dentici ML; Biamino E; Belligni E; Garavelli L; Boccone L; Melis D; Andria G; Gelb BD; Stella L; Silengo M; Dallapiccola B; Tartaglia M.
Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome
2012-01-01 Priolo M; Micale L; Augello B; Fusco C; Zucchetti F; Prontera P; Paduano V; Biamino E; Selicorni A; Mammì C; Laganà C; Zelante L; Merla G.
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient
2010-01-01 Ferrero GB; Howald C; Micale L; Biamino E; Augello B; Fusco C; Turturo MG; Forzano S; Reymond A; Merla G.
An atypical 7q11.23 deletion in a normal IQ Williams-Beurensyndrome patient
2009-01-01 Biamino E; Howald C; Micale L; Augello B; Fusco C; Turturo MG; Forzano S; Silengo M; Ferrero GB ; Reymond A; Merla G
An atypical form of progressive extreme heterotopic calcification in a patient with a de novo insertional translocation der(X)ins(X;2)(q26.1;p13.3)
2014-01-01 E. Flex; E. Giorgio; M. Silengo; C. Defilippi; E. Di Gregorio; C. Bracco; E. Belligni; E. Biamino; G. B. Ferrero; R. C. Hennekam; M. Tartaglia; A. Brusco
Analisi molecolare Arrays-CGH in 36 pazienti con fenotipo sindromico complesso
2007-01-01 Ferrero GB; Messa J; Biamino E; Molinatto C; Sorasio L; Belligni E; Migliaccio C; Zuffardi O; Silengo M
Analisi molecolare e caratteristiche cliniche di 42 pazienti con sindrome di Beckwith e quadri correlati
2007-01-01 ferrero GB; Mussa A; Biamino E; Molinatto C; Pepe E; Bianchi M; Riccio A; Silengo M
ARRAY-CGH analysis in 92 children with complex syndromic phenotype
2009-01-01 Belligni E; Molinatto C; Biamino E; Chiesa N; Marinosci AL; Vetro A; Girirajan S; Zuffardi O; Eichler E; Ferrero GB; Silengo M
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
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
2015-01-01 Rusconi, Daniela; Negri, Gloria; Colapietro, Patrizia; Picinelli, Chiara; Milani, Donatella; Spena, Silvia; Magnani, Cinzia; Silengo, Margherita Cirillo; Sorasio, Lorena; Curtisova, Vaclava; Cavaliere, Maria Luigia; Prontera, Paolo; Stangoni, Gabriela; Ferrero, Giovanni Battista; Biamino, Elisa; Fischetto, Rita; Piccione, Maria; Gasparini, Paolo; Salviati, Leonardo; Selicorni, Angelo; Finelli, Palma; Larizza, Lidia; Gervasini, Cristina
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 manifestations in a cohort of 32 children with 22q11 deletion syndrome
2007-01-01 Delmonaco A.G; Ferrero G.B; Belligni E; Biamino E; Asnaghi V; Banaudi E; Martino S; Verdun Di Cantogno L; Forzano S; Cirillo Silengo M.
Congenital hypothyroidism, cerebellar atrophy and incomplete phenotipic expression of PHACES syndrome
2008-01-01 MUSSA A; CORRIAS A; BALDASSARRE G; BIAMINO E; CIRILLO M
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages | 2015 | Adamo A; Atashpaz S; Germain PL; Zanella M; D'Agostino G; Albertin V; Chenoweth J; Micale L; Fusco C; Unger C; Augello B; Palumbo O; Hamilton B; Carella M; Donti E; Pruneri G; Selicorni A; Biamino E; Prontera P; McKay R; Merla G; Testa G | |
| 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 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 COLEC10 mutation in a child with 3MC syndrome | 2021 | Martina Migliorero, Silvia Kalantari, Valeria Bracciamà, Monica Sorbini, Francesca Arruga, Licia Peruzzi, Elisa Biamino, Antonio Amoroso, Tiziana Vaisitti, Silvia Deaglio | |
| 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 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 restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome | 2012 | Caputo V; Cianetti L; Niceta M; Carta C; Ciolfi A; Bocchinfuso G; Carrani E; Dentici ML; Biamino E; Belligni E; Garavelli L; Boccone L; Melis D; Andria G; Gelb BD; Stella L; Silengo M; Dallapiccola B; Tartaglia M. | |
| Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome | 2012 | Priolo M; Micale L; Augello B; Fusco C; Zucchetti F; Prontera P; Paduano V; Biamino E; Selicorni A; Mammì C; Laganà C; Zelante L; Merla G. | |
| An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient | 2010 | Ferrero GB; Howald C; Micale L; Biamino E; Augello B; Fusco C; Turturo MG; Forzano S; Reymond A; Merla G. | |
| An atypical 7q11.23 deletion in a normal IQ Williams-Beurensyndrome patient | 2009 | Biamino E; Howald C; Micale L; Augello B; Fusco C; Turturo MG; Forzano S; Silengo M; Ferrero GB ; Reymond A; Merla G | |
| An atypical form of progressive extreme heterotopic calcification in a patient with a de novo insertional translocation der(X)ins(X;2)(q26.1;p13.3) | 2014 | E. Flex; E. Giorgio; M. Silengo; C. Defilippi; E. Di Gregorio; C. Bracco; E. Belligni; E. Biamino; G. B. Ferrero; R. C. Hennekam; M. Tartaglia; A. Brusco | |
| Analisi molecolare Arrays-CGH in 36 pazienti con fenotipo sindromico complesso | 2007 | Ferrero GB; Messa J; Biamino E; Molinatto C; Sorasio L; Belligni E; Migliaccio C; Zuffardi O; Silengo M | |
| Analisi molecolare e caratteristiche cliniche di 42 pazienti con sindrome di Beckwith e quadri correlati | 2007 | ferrero GB; Mussa A; Biamino E; Molinatto C; Pepe E; Bianchi M; Riccio A; Silengo M | |
| ARRAY-CGH analysis in 92 children with complex syndromic phenotype | 2009 | Belligni E; Molinatto C; Biamino E; Chiesa N; Marinosci AL; Vetro A; Girirajan S; Zuffardi O; Eichler E; Ferrero GB; Silengo M | |
| 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 | |
| Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire | 2015 | Rusconi, Daniela; Negri, Gloria; Colapietro, Patrizia; Picinelli, Chiara; Milani, Donatella; Spena, Silvia; Magnani, Cinzia; Silengo, Margherita Cirillo; Sorasio, Lorena; Curtisova, Vaclava; Cavaliere, Maria Luigia; Prontera, Paolo; Stangoni, Gabriela; Ferrero, Giovanni Battista; Biamino, Elisa; Fischetto, Rita; Piccione, Maria; Gasparini, Paolo; Salviati, Leonardo; Selicorni, Angelo; Finelli, Palma; Larizza, Lidia; Gervasini, Cristina | |
| 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 manifestations in a cohort of 32 children with 22q11 deletion syndrome | 2007 | Delmonaco A.G; Ferrero G.B; Belligni E; Biamino E; Asnaghi V; Banaudi E; Martino S; Verdun Di Cantogno L; Forzano S; Cirillo Silengo M. | |
| Congenital hypothyroidism, cerebellar atrophy and incomplete phenotipic expression of PHACES syndrome | 2008 | MUSSA A; CORRIAS A; BALDASSARRE G; BIAMINO E; CIRILLO M |