Colombo C - Search Results

1

Cystic fibrosis newborn screening: distribution of blood immunoreactive trypsinogen concentrations in hypertrypsinemic neonates.

Paracchini V, Seia M, Raimondi S, Costantino L, Capasso P, Porcaro L, Colombo C, Coviello DA, Mariani T, Manzoni E, Sangiovanni M, Corbetta C. Paracchini V, et al. Among authors: colombo c. JIMD Rep. 2012;4:17-23. doi: 10.1007/8904_2011_55. Epub 2011 Nov 4. JIMD Rep. 2012. PMID: 23430892 Free PMC article.

2

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: colombo c. 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

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: colombo c. 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: colombo c. 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

Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.

Colombo C, Vajro P, Degiorgio D, Coviello DA, Costantino L, Tornillo L, Motta V, Consonni D, Maggiore G; SIGENP Study Group for Genetic Cholestasis. Colombo C, et al. J Pediatr Gastroenterol Nutr. 2011 Jan;52(1):73-83. doi: 10.1097/MPG.0b013e3181f50363. J Pediatr Gastroenterol Nutr. 2011. PMID: 21119540

6

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: colombo c. 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.

7

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: colombo f, colombo c. J Biomed Biotechnol. 2012;2012:575471. doi: 10.1155/2012/575471. Epub 2012 Jan 22. J Biomed Biotechnol. 2012. PMID: 22315512 Free PMC article.

8

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: colombo c. 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

9

Human amnion-derived cells: prospects for the treatment of lung diseases.

Carbone A, Paracchini V, Castellani S, Di Gioia S, Seia M, Colombo C, Conese M. Carbone A, et al. Among authors: colombo c. Curr Stem Cell Res Ther. 2014;9(4):297-305. doi: 10.2174/1574888x0904140429142451. Curr Stem Cell Res Ther. 2014. PMID: 23597268 Review.

10

Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction.

Degiorgio D, Corsetto PA, Rizzo AM, Colombo C, Seia M, Costantino L, Montorfano G, Tomaiuolo R, Bordo D, Sansanelli S, Li M, Tavian D, Rastaldi MP, Coviello DA. Degiorgio D, et al. Among authors: colombo c. Eur J Hum Genet. 2014 May;22(5):633-9. doi: 10.1038/ejhg.2013.214. Epub 2013 Sep 18. Eur J Hum Genet. 2014. PMID: 24045840 Free PMC article.

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