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MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.
Vetro A, Savasta S, Russo Raucci A, Cerqua C, Sartori G, Limongelli I, Forlino A, Maruelli S, Perucca P, Vergani D, Mazzini G, Mattevi A, Stivala LA, Salviati L, Zuffardi O. Vetro A, et al. Among authors: zuffardi o. Eur J Hum Genet. 2017 May;25(5):646-650. doi: 10.1038/ejhg.2017.5. Epub 2017 Feb 15. Eur J Hum Genet. 2017. PMID: 28198391 Free PMC article.
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
Novara F, Rinaldi B, Sisodiya SM, Coppola A, Giglio S, Stanzial F, Benedicenti F, Donaldson A, Andrieux J, Stapleton R, Weber A, Reho P, van Ravenswaaij-Arts C, Kerstjens-Frederikse WS, Vermeesch JR, Devriendt K, Bacino CA, Delahaye A, Maas SM, Iolascon A, Zuffardi O. Novara F, et al. Among authors: zuffardi o. Eur J Hum Genet. 2017 Jun;25(6):694-701. doi: 10.1038/ejhg.2017.49. Epub 2017 Apr 19. Eur J Hum Genet. 2017. PMID: 28422132 Free PMC article.
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.
Errichiello E, Vetro A, Mina T, Wischmeijer A, Berrino E, Carella M, Romagnoli M, Sacchini P, Venesio T, Zecca M, Zuffardi O. Errichiello E, et al. Among authors: zuffardi o. Blood Cells Mol Dis. 2017 May;64:38-44. doi: 10.1016/j.bcmd.2017.03.002. Epub 2017 Mar 6. Blood Cells Mol Dis. 2017. PMID: 28376382 Free PMC article.
Array technology in prenatal diagnosis.
Zuffardi O, Vetro A, Brady P, Vermeesch J. Zuffardi O, et al. Semin Fetal Neonatal Med. 2011 Apr;16(2):94-8. doi: 10.1016/j.siny.2010.12.001. Epub 2011 Jan 5. Semin Fetal Neonatal Med. 2011. PMID: 21208835 Review.
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.
384 results