Rabacchi C - Search Results

1

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

Bertolini S, Pisciotta L, Rabacchi C, Cefalù AB, Noto D, Fasano T, Signori A, Fresa R, Averna M, Calandra S. Bertolini S, et al. Among authors: rabacchi c. Atherosclerosis. 2013 Apr;227(2):342-8. doi: 10.1016/j.atherosclerosis.2013.01.007. Epub 2013 Jan 19. Atherosclerosis. 2013. PMID: 23375686

2

Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.

Di Leo E, Magnolo L, Pinotti E, Martini S, Cortella I, Vitturi N, Rabacchi C, Wunsch A, Pucci F, Bertolini S, Calandra S, Tarugi P. Di Leo E, et al. Among authors: rabacchi c. Mol Genet Metab. 2009 Feb;96(2):66-72. doi: 10.1016/j.ymgme.2008.10.016. Epub 2008 Dec 11. Mol Genet Metab. 2009. PMID: 19084451

3

A novel deletion of BRCA1 gene that eliminates the ATG initiation codon without affecting the promoter region.

Marino M, Rabacchi C, Simone ML, Medici V, Cortesi L, Calandra S. Marino M, et al. Among authors: rabacchi c. Clin Chim Acta. 2009 May;403(1-2):249-53. doi: 10.1016/j.cca.2009.02.020. Epub 2009 Mar 25. Clin Chim Acta. 2009. PMID: 19393826

4

An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia.

Rabacchi C, Wunsch A, Ghisellini M, Marino M, Pisciotta L, Bertolini S, Calandra S. Rabacchi C, et al. Clin Chim Acta. 2009 Aug;406(1-2):75-80. doi: 10.1016/j.cca.2009.05.017. Epub 2009 May 23. Clin Chim Acta. 2009. PMID: 19467224

5

Leucine 10 allelic variant in signal peptide of PCSK9 increases the LDL cholesterol-lowering effect of statins in patients with familial hypercholesterolaemia.

Pisciotta L, Sallo R, Rabacchi C, Wunsch A, Calandra S, Bertolini S. Pisciotta L, et al. Among authors: rabacchi c. Nutr Metab Cardiovasc Dis. 2012 Oct;22(10):831-5. doi: 10.1016/j.numecd.2011.04.003. Epub 2011 Sep 14. Nutr Metab Cardiovasc Dis. 2012. PMID: 21920719

6

Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.

Fasano T, Pisciotta L, Bocchi L, Guardamagna O, Assandro P, Rabacchi C, Zanoni P, Filocamo M, Bertolini S, Calandra S. Fasano T, et al. Among authors: rabacchi c. Mol Genet Metab. 2012 Mar;105(3):450-6. doi: 10.1016/j.ymgme.2011.12.008. Epub 2011 Dec 17. Mol Genet Metab. 2012. PMID: 22227072

7

Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.

Fasano T, Zanoni P, Rabacchi C, Pisciotta L, Favari E, Adorni MP, Deegan PB, Park A, Hlaing T, Feher MD, Jones B, Uzak AS, Kardas F, Dardis A, Sechi A, Bembi B, Minuz P, Bertolini S, Bernini F, Calandra S. Fasano T, et al. Among authors: rabacchi c. Mol Genet Metab. 2012 Nov;107(3):534-41. doi: 10.1016/j.ymgme.2012.08.005. Epub 2012 Aug 18. Mol Genet Metab. 2012. PMID: 22959828

8

Severe hypertriglyceridemia in a newborn with monogenic lipoprotein lipase deficiency: an unconventional therapeutic approach with exchange transfusion.

Pugni L, Riva E, Pietrasanta C, Rabacchi C, Bertolini S, Pederiva C, Mosca F, Calandra S. Pugni L, et al. Among authors: rabacchi c. JIMD Rep. 2014;13:59-64. doi: 10.1007/8904_2013_272. Epub 2013 Oct 20. JIMD Rep. 2014. PMID: 24142281 Free PMC article.

9

A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene.

Buonuomo PS, Bartuli A, Rabacchi C, Bertolini S, Calandra S. Buonuomo PS, et al. Among authors: rabacchi c. J Clin Lipidol. 2015 Mar-Apr;9(2):265-70. doi: 10.1016/j.jacl.2014.10.003. Epub 2014 Oct 13. J Clin Lipidol. 2015. PMID: 25911085

10

Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.

Rabacchi C, Pisciotta L, Cefalù AB, Noto D, Fresa R, Tarugi P, Averna M, Bertolini S, Calandra S. Rabacchi C, et al. Atherosclerosis. 2015 Jul;241(1):79-86. doi: 10.1016/j.atherosclerosis.2015.04.815. Epub 2015 May 1. Atherosclerosis. 2015. PMID: 25966443

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