Silengo M - Search Results

1

Progressive extreme heterotopic calcification.

Silengo M, Defilippi C, Belligni E, Biamino E, Flex E, Brusco A, Ferrero GB, Tartaglia M, Hennekam RC. Silengo M, et al. Am J Med Genet A. 2013 Jul;161A(7):1706-13. doi: 10.1002/ajmg.a.35944. Epub 2013 May 17. Am J Med Genet A. 2013. PMID: 23686761

2

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. 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

3

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. 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

4

Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene.

Silengo M, Ferrero GB, Wakamatsu N. Silengo M, et al. Am J Med Genet A. 2004 May 15;127A(1):109. doi: 10.1002/ajmg.a.20607. Am J Med Genet A. 2004. PMID: 15103730 No abstract available.

5

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. Among authors: silengo m. 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

6

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. Among authors: silengo m. 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

7

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. 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

8

Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.

Belligni EF, Biamino E, Molinatto C, Messa J, Pierluigi M, Faravelli F, Zuffardi O, Ferrero GB, Silengo MC. Belligni EF, et al. Among authors: silengo mc. Ital J Pediatr. 2009 Apr 27;35(1):9. doi: 10.1186/1824-7288-35-9. Ital J Pediatr. 2009. PMID: 19490664 Free PMC article.

9

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. 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

10

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. Among authors: silengo m. Am J Med Genet. 2002 Dec 1;113(3):291-4. doi: 10.1002/ajmg.10815. Am J Med Genet. 2002. PMID: 12439899

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