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Genome-wide copy number analysis in pediatric glioblastoma multiforme.
Giunti L, Pantaleo M, Sardi I, Provenzano A, Magi A, Cardellicchio S, Castiglione F, Tattini L, Novara F, Buccoliero AM, de Martino M, Genitori L, Zuffardi O, Giglio S. Giunti L, et al. Among authors: zuffardi o. Am J Cancer Res. 2014 May 26;4(3):293-303. eCollection 2014. Am J Cancer Res. 2014. PMID: 24959384 Free PMC article.
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Provenzano A, La Barbera A, Scagnet M, Pagliazzi A, Traficante G, Pantaleo M, Tiberi L, Vergani D, Kurtas NE, Guarducci S, Bargiacchi S, Forzano G, Artuso R, Palazzo V, Kura A, Giordano F, di Feo D, Mortilla M, De Filippi C, Mattei G, Garavelli L, Giusti B, Genitori L, Zuffardi O, Giglio S. Provenzano A, et al. Among authors: zuffardi o. Hum Genet. 2021 Apr;140(4):625-647. doi: 10.1007/s00439-020-02231-6. Epub 2020 Dec 18. Hum Genet. 2021. PMID: 33337535 Free PMC article.
Noninvasive prenatal diagnosis in a family at risk for Fraser syndrome.
Provenzano A, Palazzo V, Reho P, Pagliazzi A, Marozza A, Farina A, Zuffardi O, Giglio S. Provenzano A, et al. Among authors: zuffardi o. Prenat Diagn. 2020 Jun;40(7):905-908. doi: 10.1002/pd.5700. Epub 2020 Apr 20. Prenat Diagn. 2020. PMID: 32277492 No abstract available.
Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder.
Provenzano A, Farina A, Seidenari A, Azzaroli F, Serra C, Della Gatta A, Zuffardi O, Giglio SR. Provenzano A, et al. Among authors: zuffardi o. Diagnostics (Basel). 2021 Oct 14;11(10):1904. doi: 10.3390/diagnostics11101904. Diagnostics (Basel). 2021. PMID: 34679599 Free PMC article.
De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s.
Rossi E, Giorda R, Bonaglia MC, Candia SD, Grechi E, Franzese A, Soli F, Rivieri F, Patricelli MG, Saccilotto D, Bonfante A, Giglio S, Beri S, Rocchi M, Zuffardi O. Rossi E, et al. Among authors: zuffardi o. PLoS One. 2012;7(6):e39180. doi: 10.1371/journal.pone.0039180. Epub 2012 Jun 14. PLoS One. 2012. PMID: 22720067 Free PMC article.
Small supernumerary marker chromosomes: A legacy of trisomy rescue?
Kurtas NE, Xumerle L, Leonardelli L, Delledonne M, Brusco A, Chrzanowska K, Schinzel A, Larizza D, Guerneri S, Natacci F, Bonaglia MC, Reho P, Manolakos E, Mattina T, Soli F, Provenzano A, Al-Rikabi AH, Errichiello E, Nazaryan-Petersen L, Giglio S, Tommerup N, Liehr T, Zuffardi O. Kurtas NE, et al. Among authors: zuffardi o. Hum Mutat. 2019 Feb;40(2):193-200. doi: 10.1002/humu.23683. Epub 2018 Nov 22. Hum Mutat. 2019. PMID: 30412329 Free article.
384 results