Silengo MC - Search Results

1

790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism.

Belligni EF, Di Gregorio E, Biamino E, Calcia A, Molinatto C, Talarico F, Ferrero GB, Brusco A, Silengo MC. Belligni EF, et al. Among authors: silengo mc. Eur J Med Genet. 2012 Mar;55(3):222-4. doi: 10.1016/j.ejmg.2012.01.016. Epub 2012 Feb 6. Eur J Med Genet. 2012. PMID: 22365944

2

Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.

Ferrero GB, Biamino E, Sorasio L, Banaudi E, Peruzzi L, Forzano S, di Cantogno LV, Silengo MC. Ferrero GB, et al. Among authors: silengo mc. Eur J Med Genet. 2007 Sep-Oct;50(5):327-37. doi: 10.1016/j.ejmg.2007.05.005. Epub 2007 Jun 6. Eur J Med Genet. 2007. PMID: 17625998

3

Clinical and molecular characterization of 40 patients with Noonan syndrome.

Ferrero GB, Baldassarre G, Delmonaco AG, Biamino E, Banaudi E, Carta C, Rossi C, Silengo MC. Ferrero GB, et al. Among authors: silengo mc. Eur J Med Genet. 2008 Nov-Dec;51(6):566-72. doi: 10.1016/j.ejmg.2008.06.011. Epub 2008 Jul 17. Eur J Med Genet. 2008. PMID: 18678287

4

Prevalence of Beckwith-Wiedemann syndrome in North West of Italy.

Mussa A, Russo S, De Crescenzo A, Chiesa N, Molinatto C, Selicorni A, Richiardi L, Larizza L, Silengo MC, Riccio A, Ferrero GB. Mussa A, et al. Among authors: silengo mc. Am J Med Genet A. 2013 Oct;161A(10):2481-6. doi: 10.1002/ajmg.a.36080. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918458

5

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH.

Di Gregorio E, Savin E, Biamino E, Belligni EF, Naretto VG, D'Alessandro G, Gai G, Fiocchi F, Calcia A, Mancini C, Giorgio E, Cavalieri S, Talarico F, Pappi P, Gandione M, Grosso M, Asnaghi V, Restagno G, Mandrile G, Botta G, Silengo MC, Grosso E, Ferrero GB, Brusco A. Di Gregorio E, et al. Among authors: silengo mc. Mol Cytogenet. 2014 Nov 19;7(1):82. doi: 10.1186/s13039-014-0082-7. eCollection 2014. Mol Cytogenet. 2014. PMID: 25435912 Free PMC article.

6

Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?

Ferrero GB, Valenzise M, Franco B, Defilippi C, Gregato G, Corsello G, Pepe E, Silengo M. Ferrero GB, et al. Am J Med Genet. 2002 Dec 1;113(3):291-4. doi: 10.1002/ajmg.10815. Am J Med Genet. 2002. PMID: 12439899

7

Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation.

Ferrero GB, Belligni E, Sorasio L, Delmonaco AG, Oggero R, Faravelli F, Pierluigi M, Silengo M. Ferrero GB, et al. Am J Med Genet A. 2006 Apr 15;140(8):892-4. doi: 10.1002/ajmg.a.31188. Am J Med Genet A. 2006. PMID: 16532464

8

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.

Novara F, Stanzial F, Rossi E, Benedicenti F, Inzana F, Di Gregorio E, Brusco A, Graakjaer J, Fagerberg C, Belligni E, Silengo M, Zuffardi O, Ciccone R. Novara F, et al. Am J Med Genet A. 2014 Aug;164A(8):2084-90. doi: 10.1002/ajmg.a.36591. Epub 2014 May 12. Am J Med Genet A. 2014. PMID: 24819041

9

Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation.

Baldassarre G, Mussa A, Banaudi E, Rossi C, Tartaglia M, Silengo M, Ferrero GB. Baldassarre G, et al. Am J Med Genet A. 2014 Dec;164A(12):3120-5. doi: 10.1002/ajmg.a.36697. Epub 2014 Oct 20. Am J Med Genet A. 2014. PMID: 25331583

10

Eyebrow anomalies as a diagnostic sign of genomic disorders.

Silengo M, Belligni E, Molinatto C, Baldassarre G, Biamino E, Chiesa N, Zuffardi O, Girirajan S, Eichler EE, Ferrero GB. Silengo M, et al. Clin Genet. 2010 Jan;77(1):28-31. doi: 10.1111/j.1399-0004.2009.01347.x. Clin Genet. 2010. PMID: 20092588

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