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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.
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.
Establishment of stable iPS-derived human neural stem cell lines suitable for cell therapies.
Rosati J, Ferrari D, Altieri F, Tardivo S, Ricciolini C, Fusilli C, Zalfa C, Profico DC, Pinos F, Bernardini L, Torres B, Manni I, Piaggio G, Binda E, Copetti M, Lamorte G, Mazza T, Carella M, Gelati M, Valente EM, Simeone A, Vescovi AL. Rosati J, et al. Among authors: copetti m. Cell Death Dis. 2018 Sep 17;9(10):937. doi: 10.1038/s41419-018-0990-2. Cell Death Dis. 2018. PMID: 30224709 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
High specificity of quantitative methylation-specific PCR analysis for MGMT promoter hypermethylation detection in gliomas.
Parrella P, la Torre A, Copetti M, Valori VM, Barbano R, Notarangelo A, Bisceglia M, Gallo AP, Balsamo T, Poeta ML, Carella M, Catapano D, Parisi S, Dallapiccola B, Maiello E, D'Angelo V, Fazio VM. Parrella P, et al. Among authors: copetti m. J Biomed Biotechnol. 2009;2009:531692. doi: 10.1155/2009/531692. Epub 2009 Jun 1. J Biomed Biotechnol. 2009. PMID: 19503806 Free PMC article.
Transplantation of clinical-grade human neural stem cells reduces neuroinflammation, prolongs survival and delays disease progression in the SOD1 rats.
Zalfa C, Rota Nodari L, Vacchi E, Gelati M, Profico D, Boido M, Binda E, De Filippis L, Copetti M, Garlatti V, Daniele P, Rosati J, De Luca A, Pinos F, Cajola L, Visioli A, Mazzini L, Vercelli A, Svelto M, Vescovi AL, Ferrari D. Zalfa C, et al. Among authors: copetti m. Cell Death Dis. 2019 Apr 25;10(5):345. doi: 10.1038/s41419-019-1582-5. Cell Death Dis. 2019. PMID: 31024007 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.
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
361 results