Porcaro L - Search Results

1

Is early identification of asymptomatic infants with 'mild' CFTR genotypes clinically useful?

Colombo C, Costantini D, Russo MC, Claut L, Porcaro L, Nobili R. Colombo C, et al. Among authors: porcaro l. Acta Paediatr. 2007 Mar;96(3):477-9. doi: 10.1111/j.1651-2227.2007.00142.x. Acta Paediatr. 2007. PMID: 17407489 No abstract available.

2

Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions.

Paracchini V, Seia M, Coviello D, Porcaro L, Costantino L, Capasso P, Degiorgio D, Padoan R, Corbetta C, Claut L, Costantini D, Colombo C. Paracchini V, et al. Among authors: porcaro l. Clin Genet. 2008 Apr;73(4):346-52. doi: 10.1111/j.1399-0004.2007.00957.x. Epub 2008 Feb 13. Clin Genet. 2008. PMID: 18279436

3

Borderline sweat test: Utility and limits of genetic analysis for the diagnosis of cystic fibrosis.

Seia M, Costantino L, Paracchini V, Porcaro L, Capasso P, Coviello D, Corbetta C, Torresani E, Magazzù D, Consalvo V, Monti A, Costantini D, Colombo C. Seia M, et al. Among authors: porcaro l. Clin Biochem. 2009 May;42(7-8):611-6. doi: 10.1016/j.clinbiochem.2009.01.006. Epub 2009 Jan 24. Clin Biochem. 2009. PMID: 19318035

4

A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients.

Costantino L, Claut L, Paracchini V, Coviello DA, Colombo C, Porcaro L, Capasso P, Zanardelli M, Pizzamiglio G, Degiorgio D, Seia M. Costantino L, et al. Among authors: porcaro l. J Cyst Fibros. 2010 Dec;9(6):411-8. doi: 10.1016/j.jcf.2010.08.009. Epub 2010 Sep 26. J Cyst Fibros. 2010. PMID: 20875776 Free article.

5

A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis.

Costantino L, Rusconi D, Claut L, Colombo C, Novara F, Paracchini V, Porcaro L, Capasso P, Zuffardi O, Seia M. Costantino L, et al. Among authors: porcaro l. J Cyst Fibros. 2011 Dec;10(6):412-7. doi: 10.1016/j.jcf.2011.06.007. J Cyst Fibros. 2011. PMID: 21852204 Free article.

6

Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene.

Costantino L, Rusconi D, Soldà G, Seia M, Paracchini V, Porcaro L, Asselta R, Colombo C, Duga S. Costantino L, et al. Among authors: porcaro l. Am J Respir Cell Mol Biol. 2013 May;48(5):619-25. doi: 10.1165/rcmb.2012-0371OC. Am J Respir Cell Mol Biol. 2013. PMID: 23349053

7

IL-1 receptor antagonist ameliorates inflammasome-dependent inflammation in murine and human cystic fibrosis.

Iannitti RG, Napolioni V, Oikonomou V, De Luca A, Galosi C, Pariano M, Massi-Benedetti C, Borghi M, Puccetti M, Lucidi V, Colombo C, Fiscarelli E, Lass-Flörl C, Majo F, Cariani L, Russo M, Porcaro L, Ricciotti G, Ellemunter H, Ratclif L, De Benedictis FM, Talesa VN, Dinarello CA, van de Veerdonk FL, Romani L. Iannitti RG, et al. Among authors: porcaro l. Nat Commun. 2016 Mar 14;7:10791. doi: 10.1038/ncomms10791. Nat Commun. 2016. PMID: 26972847 Free PMC article.

8

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: porcaro l. 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.

9

Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).

Degiorgio D, Colombo C, Seia M, Porcaro L, Costantino L, Zazzeron L, Bordo D, Coviello DA. Degiorgio D, et al. Among authors: porcaro l. Eur J Hum Genet. 2007 Dec;15(12):1230-8. doi: 10.1038/sj.ejhg.5201908. Epub 2007 Aug 29. Eur J Hum Genet. 2007. PMID: 17726488

10

Th17/Treg imbalance in murine cystic fibrosis is linked to indoleamine 2,3-dioxygenase deficiency but corrected by kynurenines.

Iannitti RG, Carvalho A, Cunha C, De Luca A, Giovannini G, Casagrande A, Zelante T, Vacca C, Fallarino F, Puccetti P, Massi-Benedetti C, Defilippi G, Russo M, Porcaro L, Colombo C, Ratclif L, De Benedictis FM, Romani L. Iannitti RG, et al. Among authors: porcaro l. Am J Respir Crit Care Med. 2013 Mar 15;187(6):609-20. doi: 10.1164/rccm.201207-1346OC. Epub 2013 Jan 10. Am J Respir Crit Care Med. 2013. PMID: 23306541

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