Porcaro L - Search Results

1

Characterization of CFTR mutations in people with cystic fibrosis and severe liver disease who are not eligible for CFTR modulators.

Colombo C, Ramm GA, Lindblad A, Corti F, Porcaro L, Alghisi F, Asherova I, Evans H, Kashirskaya N, Kondratyeva E, Lewindon PJ, de Monestrol I, Oliver M, Ooi CY, Padoan R, Shankar S, Alicandro G. Colombo C, et al. Among authors: porcaro l. J Cyst Fibros. 2023 Mar;22(2):263-265. doi: 10.1016/j.jcf.2023.01.012. Epub 2023 Feb 2. J Cyst Fibros. 2023. PMID: 36739240

2

High-sensitive microarray substrates specifically designed to improve sensitivity for the identification of fetal paternally inherited sequences in maternal plasma.

Bruno F, Damin F, Causarano V, Galbiati S, Di Carlo G, Seia M, Porcaro L, Ferrari M, Chiari M, Cremonesi L. Bruno F, et al. Among authors: porcaro l. Clin Chem Lab Med. 2009;47(7):818-23. doi: 10.1515/CCLM.2009.187. Clin Chem Lab Med. 2009. PMID: 19496735

3

Gene Abnormalities in Transplant Associated-Thrombotic Microangiopathy: Comparison between Recipient and Donor's DNA.

Rodrigues EM, Ardissino G, Pintarelli G, Capone V, Mariotti J, Verna M, Bernardo ME, Faraci M, Tozzi M, Bucalossi A, Schiavello E, Biassoni V, Guidetti A, Carotti A, Facchini L, Terruzzi E, Giglio F, Zecca M, Onida F, Caroti L, Cesaro S, Consonni D, Cugno M, Porcaro L. Rodrigues EM, et al. Among authors: porcaro l. Thromb Haemost. 2022 Jul;122(7):1247-1250. doi: 10.1055/s-0041-1740498. Epub 2021 Dec 29. Thromb Haemost. 2022. PMID: 34965590 Free article. No abstract available.

4

Reactive oxygen metabolites and prooxidant status in children with Down's syndrome.

Carratelli M, Porcaro L, Ruscica M, De Simone E, Bertelli AA, Corsi MM. Carratelli M, et al. Among authors: porcaro l. Int J Clin Pharmacol Res. 2001;21(2):79-84. Int J Clin Pharmacol Res. 2001. PMID: 11824651 Clinical Trial.

5

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

6

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

7

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

8

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.

9

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.

10

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

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