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Page 1
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: lepri fr. 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
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.
Pisaneschi E, Sirleto P, Lepri FR, Genovese S, Dentici ML, Petrocchi S, Angioni A, Digilio MC, Dallapiccola B. Pisaneschi E, et al. Among authors: lepri fr. BMC Med Genet. 2015 Sep 3;16:78. doi: 10.1186/s12881-015-0225-7. BMC Med Genet. 2015. PMID: 26334530 Free PMC article.
Congenital heart defects in molecularly proven Kabuki syndrome patients.
Digilio MC, Gnazzo M, Lepri F, Dentici ML, Pisaneschi E, Baban A, Passarelli C, Capolino R, Angioni A, Novelli A, Marino B, Dallapiccola B. Digilio MC, et al. Am J Med Genet A. 2017 Nov;173(11):2912-2922. doi: 10.1002/ajmg.a.38417. Epub 2017 Sep 8. Am J Med Genet A. 2017. PMID: 28884922
Neurobehavioral features in individuals with Kabuki syndrome.
Caciolo C, Alfieri P, Piccini G, Digilio MC, Lepri FR, Tartaglia M, Menghini D, Vicari S. Caciolo C, et al. Among authors: lepri fr. Mol Genet Genomic Med. 2018 May;6(3):322-331. doi: 10.1002/mgg3.348. Epub 2018 Mar 13. Mol Genet Genomic Med. 2018. PMID: 29536651 Free PMC article.
90 results