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A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.
Biamino E, Di Gregorio E, Belligni EF, Keller R, Riberi E, Gandione M, Calcia A, Mancini C, Giorgio E, Cavalieri S, Pappi P, Talarico F, Fea AM, De Rubeis S, Cirillo Silengo M, Ferrero GB, Brusco A. Biamino E, et al. Am J Med Genet B Neuropsychiatr Genet. 2016 Mar;171B(2):290-9. doi: 10.1002/ajmg.b.32406. Epub 2015 Dec 1. Am J Med Genet B Neuropsychiatr Genet. 2016. PMID: 26620927 Free article.
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: biamino e. 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
Remittent hyperammonemia in congenital portosystemic shunt.
Ferrero GB, Porta F, Biamino E, Mussa A, Garelli E, Chiappe F, Veltri A, Silengo MC, Gennari F. Ferrero GB, et al. Among authors: biamino e. Eur J Pediatr. 2010 Mar;169(3):369-72. doi: 10.1007/s00431-009-1031-z. Epub 2009 Jul 18. Eur J Pediatr. 2010. PMID: 19618212
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. Among authors: biamino e. Clin Genet. 2010 Jan;77(1):28-31. doi: 10.1111/j.1399-0004.2009.01347.x. Clin Genet. 2010. PMID: 20092588
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
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. Caputo V, et al. Among authors: biamino e. Am J Hum Genet. 2012 Jan 13;90(1):161-9. doi: 10.1016/j.ajhg.2011.12.011. Am J Hum Genet. 2012. PMID: 22243968 Free PMC article.
53 results