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Page 1
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
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.
TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survival.
Micale L, Fusco C, Fontana A, Barbano R, Augello B, De Nittis P, Copetti M, Pellico MT, Mandriani B, Cocciadiferro D, Parrella P, Fazio VM, Dimitri LM, D'Angelo V, Novielli C, Larizza L, Daga A, Merla G. Micale L, et al. Among authors: copetti m. BMC Cancer. 2015 Jun 16;15:470. doi: 10.1186/s12885-015-1449-9. BMC Cancer. 2015. PMID: 26077989 Free PMC article.
MicroRNA co-expression networks exhibit increased complexity in pancreatic ductal compared to Vater's papilla adenocarcinoma.
Mazza T, Copetti M, Capocefalo D, Fusilli C, Biagini T, Carella M, De Bonis A, Mastrodonato N, Piepoli A, Pazienza V, Maiello E, di Mola FF, di Sebastiano P, Andriulli A, Tavano F. Mazza T, et al. Among authors: copetti m. Oncotarget. 2017 Oct 31;8(62):105320-105339. doi: 10.18632/oncotarget.22184. eCollection 2017 Dec 1. Oncotarget. 2017. PMID: 29285254 Free PMC article.
Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder.
Morlino S, Dordoni C, Sperduti I, Clark CJ, Piedimonte C, Fontana A, Colombi M, Grammatico P, Copetti M, Castori M. Morlino S, et al. Among authors: copetti m. Am J Med Genet B Neuropsychiatr Genet. 2019 Jan;180(1):25-34. doi: 10.1002/ajmg.b.32698. Epub 2018 Nov 23. Am J Med Genet B Neuropsychiatr Genet. 2019. PMID: 30471081
348 results