BELLIGNI, ELGA FABIA
BELLIGNI, ELGA FABIA
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 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.
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
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
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
Array-CGH: sindromi note, varianti private e nuove sindromi
2012-01-01 E. Belligni; E. Di Gregorio; E. Biamino; A. Calcia
Un caso di inv dup del(9p) con sex-reversal e cardiopatia congenita
2011-01-01 Di Gregorio E; Belligni E; Fiocchi F; Talarico F; Biamino E; Amione M; Migone N; Cirillo Silengo M; Brusco A; Grosso E
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.
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes
2017-01-01 DI GREGORIO, Eleonora; Riberi, Evelise; Belligni, ELGA FABIA; Biamino, Elisa; Spielmann, Malte; Ala, Ugo; Calcia, Alessandro; Bagnasco, Irene; Carli, Diana; Gai, Giorgia; Giordano, Mara; Guala, Andrea; Keller, Roberto; Mandrile, Giorgia; Arduino, Carlo; Maffè, Antonella; Naretto, VALERIA GIORGIA; Sirchia, Fabio; Sorasio, Lorena; Ungari, Silvana; Zonta, Andrea; Zacchetti, Giulia; Talarico, Flavia; Pappi, Patrizia; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Ferrero, Marta; Brussino, Alessandro; Savin, Elisa; Gandione, Marina; Pelle, Alessandra; Giachino, Daniela Francesca; DE MARCHI, Mario; Restagno, Gabriella; Provero, Paolo; Silengo, Margherita Cirillo; Grosso, Enrico; Buxbaum, Joseph D; Pasini, Barbara; De Rubeis, Silvia; Brusco, Alfredo; Ferrero, Giovanni Battista
Cover Image, Volume 170A, Number 7, July 2016
2016-01-01 Giorgio, Elisa; Ciolfi, Andrea; Biamino, Elisa; Caputo, Viviana; Di Gregorio, Eleonora; Belligni, Elga Fabia; Calcia, Alessandro; Gaidolfi, Elena; Bruselles, Alessandro; Mancini, Cecilia; Cavalieri, Simona; Molinatto, Cristina; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.
2014-01-01 Novara, ; Francesca, Stanzial; Franco, Rossi; Elena, Benedicenti; Francesco, Inzana; Francesca, Di Gregorio; Eleonora, Brusco; Alfredo, Graakjaer; Jesper, ; Fagerberg, Christina; Belligni, ELGA FABIA; Elga Fabia, Cirillo; Margherita, Zuffardi; Orsetta, ; Ciccone, Roberto
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes
2017-01-01 Giorgio, Elisa; Brussino, Alessandro; Biamino, Elisa; Belligni, Elga Fabia; Bruselles, Alessandro; Ciolfi, Andrea; Caputo, Viviana; Pizzi, Simone; Calcia, Alessandro; Di Gregorio, Eleonora; Cavalieri, Simona; Mancini, Cecilia; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Borelli, Iolanda; Amoroso, Antonio; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo
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
Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder
2020-01-01 D Carli, E Giorgio, L Pavinato, E Riberi, P Dimartino, A Bruselles, S Cardaropoli, A Mussa, A Pelle, G Mandrile, V Antona, L Sorasio, E Biamino, EF Belligni, V Rizzo, F Sirchia, I Bagnasco, G Zacchetti, VG Naretto, G Gai, A Zonta, E Grosso, C Davico, R Keller, T Pippucci, M Tartaglia, S De Rubeis, A Brusco, GB Ferrero
Heterotopic bone formation not related to PHO/FOP disease: a new entity
2012-01-01 Belligni E; Biamino E; de Gregorio E; Calcia A; Defilippi C; Brusco A; Ferrero GB; Tartaglia M; Silengo M
Heterotopic bone formation not related to POH/FOP disease: a new entity?
2012-01-01 E.F. Belligni; E. Biamino; E. Di Gregorio; A. Calcia; C. De Filippi; G.B. Ferrero; A. Brusco; M. Tartaglia; M. Silengo
| 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 | |
| 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 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. | |
| 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 | |
| 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 | |
| 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 | |
| Array-CGH: sindromi note, varianti private e nuove sindromi | 2012 | E. Belligni; E. Di Gregorio; E. Biamino; A. Calcia | |
| Un caso di inv dup del(9p) con sex-reversal e cardiopatia congenita | 2011 | Di Gregorio E; Belligni E; Fiocchi F; Talarico F; Biamino E; Amione M; Migone N; Cirillo Silengo M; Brusco A; Grosso E | |
| 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. | |
| Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes | 2017 | DI GREGORIO, Eleonora; Riberi, Evelise; Belligni, ELGA FABIA; Biamino, Elisa; Spielmann, Malte; Ala, Ugo; Calcia, Alessandro; Bagnasco, Irene; Carli, Diana; Gai, Giorgia; Giordano, Mara; Guala, Andrea; Keller, Roberto; Mandrile, Giorgia; Arduino, Carlo; Maffè, Antonella; Naretto, VALERIA GIORGIA; Sirchia, Fabio; Sorasio, Lorena; Ungari, Silvana; Zonta, Andrea; Zacchetti, Giulia; Talarico, Flavia; Pappi, Patrizia; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Ferrero, Marta; Brussino, Alessandro; Savin, Elisa; Gandione, Marina; Pelle, Alessandra; Giachino, Daniela Francesca; DE MARCHI, Mario; Restagno, Gabriella; Provero, Paolo; Silengo, Margherita Cirillo; Grosso, Enrico; Buxbaum, Joseph D; Pasini, Barbara; De Rubeis, Silvia; Brusco, Alfredo; Ferrero, Giovanni Battista | |
| Cover Image, Volume 170A, Number 7, July 2016 | 2016 | Giorgio, Elisa; Ciolfi, Andrea; Biamino, Elisa; Caputo, Viviana; Di Gregorio, Eleonora; Belligni, Elga Fabia; Calcia, Alessandro; Gaidolfi, Elena; Bruselles, Alessandro; Mancini, Cecilia; Cavalieri, Simona; Molinatto, Cristina; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo | |
| Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion. | 2014 | Novara, ; Francesca, Stanzial; Franco, Rossi; Elena, Benedicenti; Francesco, Inzana; Francesca, Di Gregorio; Eleonora, Brusco; Alfredo, Graakjaer; Jesper, ; Fagerberg, Christina; Belligni, ELGA FABIA; Elga Fabia, Cirillo; Margherita, Zuffardi; Orsetta, ; Ciccone, Roberto | |
| Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes | 2017 | Giorgio, Elisa; Brussino, Alessandro; Biamino, Elisa; Belligni, Elga Fabia; Bruselles, Alessandro; Ciolfi, Andrea; Caputo, Viviana; Pizzi, Simone; Calcia, Alessandro; Di Gregorio, Eleonora; Cavalieri, Simona; Mancini, Cecilia; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Borelli, Iolanda; Amoroso, Antonio; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo | |
| 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 | |
| Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder | 2020 | D Carli, E Giorgio, L Pavinato, E Riberi, P Dimartino, A Bruselles, S Cardaropoli, A Mussa, A Pelle, G Mandrile, V Antona, L Sorasio, E Biamino, EF Belligni, V Rizzo, F Sirchia, I Bagnasco, G Zacchetti, VG Naretto, G Gai, A Zonta, E Grosso, C Davico, R Keller, T Pippucci, M Tartaglia, S De Rubeis, A Brusco, GB Ferrero | |
| Heterotopic bone formation not related to PHO/FOP disease: a new entity | 2012 | Belligni E; Biamino E; de Gregorio E; Calcia A; Defilippi C; Brusco A; Ferrero GB; Tartaglia M; Silengo M | |
| Heterotopic bone formation not related to POH/FOP disease: a new entity? | 2012 | E.F. Belligni; E. Biamino; E. Di Gregorio; A. Calcia; C. De Filippi; G.B. Ferrero; A. Brusco; M. Tartaglia; M. Silengo |