Sfoglia per Autore
Myhre's syndrome in a girl with normal intelligence
2005-01-01 RULLI I; FERRERO GB; BELLIGNI E; DELMONACO AG; DEFILIPPI C; SILENGO 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
Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation
2006-01-01 FERRERO GB; BELLIGNI E; SORASIO L; DELMONACOA; OGGERO R; FARAVELLI F; PIERLUIGI M; M. CIRILLO SILENGO
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.
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
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability
2009-01-01 Belligni EF; Biamino E; Molinatto C; Messa J; Pierluigi M; Faravelli F; Zuffardi O; Ferrero GB; Silengo MC.
ZIC 3 mutation analysis in five familial cases of heterotaxy: identification of a new mutation
2010-01-01 Biamino E; Garelli E; Chiesa N; Sorasio L; Belligni E; Marinosci A;Seri M; Silengo M; Ferrero GB
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
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
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
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
2011-01-01 Micale L; Augello B; Fusco C; Selicorni A; Loviglio MN; Silengo MC; Reymond A; Gumiero B; Zucchetti F; D'Addetta EV; Belligni E; Calcagnì A; Digilio MC; Dallapiccola B; Faravelli F; Forzano F; Accadia M; Bonfante A; Clementi M; Daolio C; Douzgou S; Ferrari P; Fischetto R; Garavelli L; Lapi E; Mattina T; Melis D; Patricelli MG; Priolo M; Prontera P; Renieri A; Mencarelli MA; Scarano G; della Monica M; Toschi B; Turolla L; Vancini A; Zatterale A; Gabrielli O; Zelante L; Merla G.
Microduplicazione 17p13.1 in un paziente con diabete mellito2, sindrome metabolica e ritardo mentale
2011-01-01 Belligni EF; Di Gregorio E; Biamino E; Molinatto C; Calcia A; Talarico F; Ferrero GB; Brusco A; Silengo M
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.
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
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.
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
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
Array-CGH: sindromi note, varianti private e nuove sindromi
2012-01-01 E. Belligni; E. Di Gregorio; E. Biamino; A. Calcia
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Myhre's syndrome in a girl with normal intelligence | 2005 | RULLI I; FERRERO GB; BELLIGNI E; DELMONACO AG; DEFILIPPI C; SILENGO 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 | |
| Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation | 2006 | FERRERO GB; BELLIGNI E; SORASIO L; DELMONACOA; OGGERO R; FARAVELLI F; PIERLUIGI M; M. CIRILLO SILENGO | |
| 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. | |
| 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 | |
| Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability | 2009 | Belligni EF; Biamino E; Molinatto C; Messa J; Pierluigi M; Faravelli F; Zuffardi O; Ferrero GB; Silengo MC. | |
| ZIC 3 mutation analysis in five familial cases of heterotaxy: identification of a new mutation | 2010 | Biamino E; Garelli E; Chiesa N; Sorasio L; Belligni E; Marinosci A;Seri M; Silengo M; Ferrero GB | |
| 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 | |
| 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 | |
| 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 | |
| Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. | 2011 | Micale L; Augello B; Fusco C; Selicorni A; Loviglio MN; Silengo MC; Reymond A; Gumiero B; Zucchetti F; D'Addetta EV; Belligni E; Calcagnì A; Digilio MC; Dallapiccola B; Faravelli F; Forzano F; Accadia M; Bonfante A; Clementi M; Daolio C; Douzgou S; Ferrari P; Fischetto R; Garavelli L; Lapi E; Mattina T; Melis D; Patricelli MG; Priolo M; Prontera P; Renieri A; Mencarelli MA; Scarano G; della Monica M; Toschi B; Turolla L; Vancini A; Zatterale A; Gabrielli O; Zelante L; Merla G. | |
| Microduplicazione 17p13.1 in un paziente con diabete mellito2, sindrome metabolica e ritardo mentale | 2011 | Belligni EF; Di Gregorio E; Biamino E; Molinatto C; Calcia A; Talarico F; Ferrero GB; Brusco A; Silengo M | |
| 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. | |
| 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 | |
| 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. | |
| 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 | |
| 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 | |
| Array-CGH: sindromi note, varianti private e nuove sindromi | 2012 | E. Belligni; E. Di Gregorio; E. Biamino; A. Calcia | |
| 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 |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile