Bertolini S - Search Results

1

Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.

Reiner Ž, Guardamagna O, Nair D, Soran H, Hovingh K, Bertolini S, Jones S, Ćorić M, Calandra S, Hamilton J, Eagleton T, Ros E. Reiner Ž, et al. Among authors: bertolini s. Atherosclerosis. 2014 Jul;235(1):21-30. doi: 10.1016/j.atherosclerosis.2014.04.003. Epub 2014 Apr 15. Atherosclerosis. 2014. PMID: 24792990 Free article. Review.

2

Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency.

Pisciotta L, Miccoli R, Cantafora A, Calabresi L, Tarugi P, Alessandrini P, Bittolo Bon G, Franceschini G, Cortese C, Calandra S, Bertolini S. Pisciotta L, et al. Among authors: bertolini s. Atherosclerosis. 2003 Apr;167(2):335-45. doi: 10.1016/s0021-9150(03)00020-0. Atherosclerosis. 2003. PMID: 12818417

3

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: bertolini s. Atherosclerosis. 2010 May;210(1):173-6. doi: 10.1016/j.atherosclerosis.2009.11.028. Epub 2009 Nov 24. Atherosclerosis. 2010. PMID: 20018285

4

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: bertolini s. 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

5

Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants.

Pisciotta L, Tozzi G, Travaglini L, Taurisano R, Lucchi T, Indolfi G, Papadia F, Di Rocco M, D'Antiga L, Crock P, Vora K, Nightingale S, Michelakakis H, Garoufi A, Lykopoulou L, Bertolini S, Calandra S. Pisciotta L, et al. Among authors: bertolini s. Atherosclerosis. 2017 Oct;265:124-132. doi: 10.1016/j.atherosclerosis.2017.08.021. Epub 2017 Aug 26. Atherosclerosis. 2017. PMID: 28881270

6

Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.

Pisciotta L, Hamilton-Craig I, Tarugi P, Bellocchio A, Fasano T, Alessandrini P, Bon GB, Siepi D, Mannarino E, Cattin L, Averna M, Cefalù AB, Cantafora A, Calandra S, Bertolini S. Pisciotta L, et al. Among authors: bertolini s. Atherosclerosis. 2004 Feb;172(2):309-20. doi: 10.1016/j.atherosclerosis.2003.11.009. Atherosclerosis. 2004. PMID: 15019541

7

Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia.

Di Leo E, Lancellotti S, Penacchioni JY, Cefalù AB, Averna M, Pisciotta L, Bertolini S, Calandra S, Gabelli C, Tarugi P. Di Leo E, et al. Among authors: bertolini s. Atherosclerosis. 2005 Jun;180(2):311-8. doi: 10.1016/j.atherosclerosis.2004.12.004. Epub 2005 Jan 19. Atherosclerosis. 2005. PMID: 15910857

8

Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes.

Pisciotta L, Calabresi L, Lupattelli G, Siepi D, Mannarino MR, Moleri E, Bellocchio A, Cantafora A, Tarugi P, Calandra S, Bertolini S. Pisciotta L, et al. Among authors: bertolini s. Atherosclerosis. 2005 Sep;182(1):153-9. doi: 10.1016/j.atherosclerosis.2005.01.048. Epub 2005 Mar 31. Atherosclerosis. 2005. PMID: 16115486

9

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: bertolini s. Atherosclerosis. 2006 Jun;186(2):433-40. doi: 10.1016/j.atherosclerosis.2005.08.015. Epub 2005 Sep 23. Atherosclerosis. 2006. PMID: 16183066

10

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: bertolini s. Atherosclerosis. 2006 Oct;188(2):398-405. doi: 10.1016/j.atherosclerosis.2005.11.016. Epub 2005 Dec 15. Atherosclerosis. 2006. PMID: 16343504

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