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Down Syndrome Fetal Fibroblasts Display Alterations of Endosomal Trafficking Possibly due to SYNJ1 Overexpression.
De Rosa L, Fasano D, Zerillo L, Valente V, Izzo A, Mollo N, Amodio G, Polishchuk E, Polishchuk R, Melone MAB, Criscuolo C, Conti A, Nitsch L, Remondelli P, Pierantoni GM, Paladino S. De Rosa L, et al. Among authors: izzo a. Front Genet. 2022 May 13;13:867989. doi: 10.3389/fgene.2022.867989. eCollection 2022. Front Genet. 2022. PMID: 35646085 Free PMC article.
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.
Melis D, Genesio R, Cappuccio G, MariaGinocchio V, Casa RD, Menna G, Buffardi S, Poggi V, Leszle A, Imperati F, Carella M, Izzo A, Del Giudice E, Nitsch L, Andria G. Melis D, et al. Among authors: izzo a. Am J Med Genet A. 2011 Jul;155A(7):1697-705. doi: 10.1002/ajmg.a.33976. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671372
Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects.
Piccoli C, Izzo A, Scrima R, Bonfiglio F, Manco R, Negri R, Quarato G, Cela O, Ripoli M, Prisco M, Gentile F, Calì G, Pinton P, Conti A, Nitsch L, Capitanio N. Piccoli C, et al. Among authors: izzo a. Hum Mol Genet. 2013 Mar 15;22(6):1218-32. doi: 10.1093/hmg/dds529. Epub 2012 Dec 20. Hum Mol Genet. 2013. PMID: 23257287
629 results