Coviello DA - 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: coviello da. 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: coviello da. 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

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. 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

4

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. 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

5

An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study.

Tomaiuolo R, Degiorgio D, Coviello DA, Baccarelli A, Elce A, Raia V, Motta V, Seia M, Castaldo G, Colombo C. Tomaiuolo R, et al. Among authors: coviello da. Dig Liver Dis. 2009 Nov;41(11):817-22. doi: 10.1016/j.dld.2009.03.012. Epub 2009 May 20. Dig Liver Dis. 2009. PMID: 19467940

6

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: coviello da. 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.

7

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. Among authors: coviello da. J Pediatr Gastroenterol Nutr. 2011 Jan;52(1):73-83. doi: 10.1097/MPG.0b013e3181f50363. J Pediatr Gastroenterol Nutr. 2011. PMID: 21119540

8

Use of parthenogenetic activation of human oocytes as an experimental model for evaluation of polar body based PGD assay performance.

Paffoni A, Paracchini V, Ferrari S, Scarduelli C, Seia M, Coviello DA, Ragni G. Paffoni A, et al. Among authors: coviello da. J Assist Reprod Genet. 2011 May;28(5):461-70. doi: 10.1007/s10815-011-9540-x. Epub 2011 Mar 1. J Assist Reprod Genet. 2011. PMID: 21360136 Free PMC article.

9

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: coviello da. 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.

10

ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.

Degiorgio D, Crosignani A, Colombo C, Bordo D, Zuin M, Vassallo E, Syrén ML, Coviello DA, Battezzati PM. Degiorgio D, et al. Among authors: coviello da. J Gastroenterol. 2016 Mar;51(3):271-80. doi: 10.1007/s00535-015-1110-z. Epub 2015 Sep 1. J Gastroenterol. 2016. PMID: 26324191

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