Fresa R - 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: fresa r. Atherosclerosis. 2013 Apr;227(2):342-8. doi: 10.1016/j.atherosclerosis.2013.01.007. Epub 2013 Jan 19. Atherosclerosis. 2013. PMID: 23375686

2

Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia.

Pisciotta L, Priore Oliva C, Cefalù AB, Noto D, Bellocchio A, Fresa R, Cantafora A, Patel D, Averna M, Tarugi P, Calandra S, Bertolini S. Pisciotta L, et al. Among authors: fresa r. Atherosclerosis. 2006 Jun;186(2):433-40. doi: 10.1016/j.atherosclerosis.2005.08.015. Epub 2005 Sep 23. Atherosclerosis. 2006. PMID: 16183066

3

Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison.

Pisciotta L, Priore Oliva C, Pes GM, Di Scala L, Bellocchio A, Fresa R, Cantafora A, Arca M, Calandra S, Bertolini S. Pisciotta L, et al. Among authors: fresa r. Atherosclerosis. 2006 Oct;188(2):398-405. doi: 10.1016/j.atherosclerosis.2005.11.016. Epub 2005 Dec 15. Atherosclerosis. 2006. PMID: 16343504

4

Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients.

Pisciotta L, Fasano T, Bellocchio A, Bocchi L, Sallo R, Fresa R, Colangeli I, Cantafora A, Calandra S, Bertolini S. Pisciotta L, et al. Among authors: fresa r. Atherosclerosis. 2007 Oct;194(2):e116-22. doi: 10.1016/j.atherosclerosis.2006.10.036. Epub 2006 Nov 30. Atherosclerosis. 2007. PMID: 17140581 Clinical Trial.

5

A novel mutation of the apolipoprotein A-I gene in a family with familial combined hyperlipidemia.

Pisciotta L, Fasano T, Calabresi L, Bellocchio A, Fresa R, Borrini C, Calandra S, Bertolini S. Pisciotta L, et al. Among authors: fresa r. Atherosclerosis. 2008 May;198(1):145-51. doi: 10.1016/j.atherosclerosis.2007.09.017. Epub 2007 Oct 24. Atherosclerosis. 2008. PMID: 17950741

6

Pseudoxanthoma elasticum and familial hypercholesterolemia: a deleterious combination of cardiovascular risk factors.

Pisciotta L, Tarugi P, Borrini C, Bellocchio A, Fresa R, Guerra D, Quaglino D, Ronchetti I, Calandra S, Bertolini S. Pisciotta L, et al. Among authors: fresa r. Atherosclerosis. 2010 May;210(1):173-6. doi: 10.1016/j.atherosclerosis.2009.11.028. Epub 2009 Nov 24. Atherosclerosis. 2010. PMID: 20018285

7

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. Among authors: fresa r. Atherosclerosis. 2015 Jul;241(1):79-86. doi: 10.1016/j.atherosclerosis.2015.04.815. Epub 2015 May 1. Atherosclerosis. 2015. PMID: 25966443

8

Long term follow-up of genetically confirmed patients with familial hypercholesterolemia treated with first and second-generation statins and then with PCSK9 monoclonal antibodies.

Pasta A, Cremonini AL, Formisano E, Fresa R, Bertolini S, Pisciotta L. Pasta A, et al. Among authors: fresa r. Atherosclerosis. 2020 Sep;308:6-14. doi: 10.1016/j.atherosclerosis.2020.07.006. Epub 2020 Jul 29. Atherosclerosis. 2020. PMID: 32771803

9

Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene.

Pisciotta L, Fresa R, Bellocchio A, Pino E, Guido V, Cantafora A, Di Rocco M, Calandra S, Bertolini S. Pisciotta L, et al. Among authors: fresa r. Mol Genet Metab. 2009 Jun;97(2):143-8. doi: 10.1016/j.ymgme.2009.02.007. Epub 2009 Feb 26. Mol Genet Metab. 2009. PMID: 19307143

10

Two novel rare variants of APOA5 gene found in subjects with severe hypertriglyceridemia.

Pisciotta L, Fresa R, Bellocchio A, Guido V, Priore Oliva C, Calandra S, Bertolini S. Pisciotta L, et al. Among authors: fresa r. Clin Chim Acta. 2011 Nov 20;412(23-24):2194-8. doi: 10.1016/j.cca.2011.08.001. Epub 2011 Aug 7. Clin Chim Acta. 2011. PMID: 21846464

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