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16p subtelomeric duplication: a clinically recognizable syndrome.
Digilio MC, Bernardini L, Capalbo A, Capolino R, Gagliardi MG, Marino B, Novelli A, Dallapiccola B. Digilio MC, et al. Among authors: novelli a. Eur J Hum Genet. 2009 Sep;17(9):1135-40. doi: 10.1038/ejhg.2009.14. Epub 2009 Mar 18. Eur J Hum Genet. 2009. PMID: 19293839 Free PMC article.
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: novelli a. Neurogenetics. 2011 Aug;12(3):241-5. doi: 10.1007/s10048-011-0283-8. Epub 2011 Apr 12. Neurogenetics. 2011. PMID: 21484435
Syndromic non-compaction of the left ventricle: associated chromosomal anomalies.
Digilio MC, Bernardini L, Gagliardi MG, Versacci P, Baban A, Capolino R, Dentici ML, Roberti MC, Angioni A, Novelli A, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: novelli a. Clin Genet. 2013 Oct;84(4):362-7. doi: 10.1111/cge.12069. Epub 2012 Dec 28. Clin Genet. 2013. PMID: 23210894
Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.
Digilio MC, Bernardini L, Consoli F, Lepri FR, Giuffrida MG, Baban A, Surace C, Ferese R, Angioni A, Novelli A, Marino B, De Luca A, Dallapiccola B. Digilio MC, et al. Among authors: novelli a. Eur J Med Genet. 2013 Mar;56(3):144-9. doi: 10.1016/j.ejmg.2012.12.004. Epub 2012 Dec 25. Eur J Med Genet. 2013. PMID: 23270675
800 results