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FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.
Zanni G, Barresi S, Travaglini L, Bernardini L, Rizza T, Digilio MC, Mercuri E, Cianfarani S, Valeriani M, Ferraris A, Da Sacco L, Novelli A, Valente EM, Dallapiccola B, Bertini ES. Zanni G, et al. Among authors: digilio mc. Neurogenetics. 2011 Aug;12(3):241-5. doi: 10.1007/s10048-011-0283-8. Epub 2011 Apr 12. Neurogenetics. 2011. PMID: 21484435
Familial postaxial acrofacial dysostosis syndrome.
Giannotti A, Digilio MC, Virgili Q, Obregon MG, Guadagni AM, Ventura T, Dallapiccola B. Giannotti A, et al. Among authors: digilio mc. J Med Genet. 1992 Oct;29(10):752. doi: 10.1136/jmg.29.10.752. J Med Genet. 1992. PMID: 1433242 Free PMC article. No abstract available.
Atrioventricular canal associated with trisomy 9.
Marino B, Digilio MC, Giannotti A, Dallapiccola B. Marino B, et al. Among authors: digilio mc. Chest. 1989 Dec;96(6):1420-1. doi: 10.1378/chest.96.6.1420. Chest. 1989. PMID: 2582851
444 results