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Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.
Terlizzi V, Castaldo G, Salvatore D, Lucarelli M, Raia V, Angioni A, Carnovale V, Cirilli N, Casciaro R, Colombo C, Di Lullo AM, Elce A, Iacotucci P, Comegna M, Scorza M, Lucidi V, Perfetti A, Cimino R, Quattrucci S, Seia M, Sofia VM, Zarrilli F, Amato F. Terlizzi V, et al. Among authors: seia m. J Med Genet. 2017 Apr;54(4):224-235. doi: 10.1136/jmedgenet-2016-103985. Epub 2016 Oct 13. J Med Genet. 2017. PMID: 27738188 Free article.
Clinical expression of cystic fibrosis in a large cohort of Italian siblings.
Terlizzi V, Lucarelli M, Salvatore D, Angioni A, Bisogno A, Braggion C, Buzzetti R, Carnovale V, Casciaro R, Castaldo G, Cirilli N, Collura M, Colombo C, Di Lullo AM, Elce A, Lucidi V, Madarena E, Padoan R, Quattrucci S, Raia V, Seia M, Termini L, Zarrilli F. Terlizzi V, et al. Among authors: seia m. BMC Pulm Med. 2018 Dec 22;18(1):196. doi: 10.1186/s12890-018-0766-6. BMC Pulm Med. 2018. PMID: 30577776 Free PMC article.
A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients.
Crovella S, Segat L, Amato A, Athanasakis E, Bezzerri V, Braggion C, Casciaro R, Castaldo G, Colombo C, Covone AE, De Rose V, Gagliardini R, Lanzara C, Minicucci L, Morgutti M, Nicolis E, Pardo F, Quattrucci S, Raia V, Ravazzolo R, Seia M, Stanzial V, Termini L, Zazzeron L, Cabrini G, Gasparini P. Crovella S, et al. Among authors: seia m. Clin Chem Lab Med. 2011 Jan;49(1):49-54. doi: 10.1515/CCLM.2011.023. Epub 2010 Nov 16. Clin Chem Lab Med. 2011. PMID: 21077791
Amniotic mesenchymal stem cells: a new source for hepatocyte-like cells and induction of CFTR expression by coculture with cystic fibrosis airway epithelial cells.
Paracchini V, Carbone A, Colombo F, Castellani S, Mazzucchelli S, Gioia SD, Degiorgio D, Seia M, Porretti L, Colombo C, Conese M. Paracchini V, et al. Among authors: seia m. J Biomed Biotechnol. 2012;2012:575471. doi: 10.1155/2012/575471. Epub 2012 Jan 22. J Biomed Biotechnol. 2012. PMID: 22315512 Free PMC article.
A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology.
Lucarelli M, Porcaro L, Biffignandi A, Costantino L, Giannone V, Alberti L, Bruno SM, Corbetta C, Torresani E, Colombo C, Seia M. Lucarelli M, et al. Among authors: seia m. J Mol Diagn. 2017 Sep;19(5):788-800. doi: 10.1016/j.jmoldx.2017.06.002. Epub 2017 Jul 20. J Mol Diagn. 2017. PMID: 28736296 Free article.
89 results