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Page 1
A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H.
Bisceglia L, Zoccolella S, Torraco A, Piemontese MR, Dell'Aglio R, Amati A, De Bonis P, Artuso L, Copetti M, Santorelli FM, Serlenga L, Zelante L, Bertini E, Petruzzella V. Bisceglia L, et al. Among authors: copetti m. Eur J Hum Genet. 2010 Jun;18(6):636-41. doi: 10.1038/ejhg.2009.235. Epub 2010 Jan 13. Eur J Hum Genet. 2010. PMID: 20068593 Free PMC article.
Frequent epigenetics inactivation of KEAP1 gene in non-small cell lung cancer.
Muscarella LA, Parrella P, D'Alessandro V, la Torre A, Barbano R, Fontana A, Tancredi A, Guarnieri V, Balsamo T, Coco M, Copetti M, Pellegrini F, De Bonis P, Bisceglia M, Scaramuzzi G, Maiello E, Valori VM, Merla G, Vendemiale G, Fazio VM. Muscarella LA, et al. Among authors: copetti m. Epigenetics. 2011 Jun;6(6):710-9. doi: 10.4161/epi.6.6.15773. Epub 2011 Jun 1. Epigenetics. 2011. PMID: 21610322 Free article.
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.
Guida V, Ferese R, Rocchetti M, Bonetti M, Sarkozy A, Cecchetti S, Gelmetti V, Lepri F, Copetti M, Lamorte G, Cristina Digilio M, Marino B, Zaza A, den Hertog J, Dallapiccola B, De Luca A. Guida V, et al. Among authors: copetti m. Eur J Hum Genet. 2013 Jan;21(1):69-75. doi: 10.1038/ejhg.2012.109. Epub 2012 Jun 20. Eur J Hum Genet. 2013. PMID: 22713807 Free PMC article.
CASR gene activating mutations in two families with autosomal dominant hypocalcemia.
Guarnieri V, Valentina D'Elia A, Baorda F, Pazienza V, Benegiamo G, Stanziale P, Copetti M, Battista C, Grimaldi F, Damante G, Pellegrini F, D'Agruma L, Zelante L, Carella M, Scillitani A. Guarnieri V, et al. Among authors: copetti m. Mol Genet Metab. 2012 Nov;107(3):548-52. doi: 10.1016/j.ymgme.2012.06.012. Epub 2012 Jun 26. Mol Genet Metab. 2012. PMID: 22789683
Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene.
Pazienza V, la Torre A, Baorda F, Alfarano M, Chetta M, Muscarella LA, Battista C, Copetti M, Kotzot D, Kapelari K, Al-Abdulrazzaq D, Perlman K, Sochett E, Cole DE, Pellegrini F, Canaff L, Hendy GN, D'Agruma L, Zelante L, Carella M, Scillitani A, Guarnieri V. Pazienza V, et al. Among authors: copetti m. PLoS One. 2013 Dec 5;8(12):e82292. doi: 10.1371/journal.pone.0082292. eCollection 2013. PLoS One. 2013. PMID: 24340015 Free PMC article.
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.
Fusco C, Nardella G, Fischetto R, Copetti M, Petracca A, Annunziata F, Augello B, D'Asdia MC, Petrucci S, Mattina T, Rella A, Cassina M, Bengala M, Biagini T, Causio FA, Caldarini C, Brancati F, De Luca A, Guarnieri V, Micale L, D'Agruma L, Castori M. Fusco C, et al. Among authors: copetti m. Hum Mol Genet. 2019 Jul 1;28(13):2133-2142. doi: 10.1093/hmg/ddz046. Hum Mol Genet. 2019. PMID: 30806661
369 results