Bertolini S - Search Results

1

Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein B.

Lancellotti S, Di Leo E, Penacchioni JY, Balli F, Viola L, Bertolini S, Calandra S, Tarugi P. Lancellotti S, et al. Among authors: bertolini s. Biochim Biophys Acta. 2004 Jan 20;1688(1):61-7. doi: 10.1016/j.bbadis.2003.11.002. Biochim Biophys Acta. 2004. PMID: 14732481 Free article.

2

A "de novo" mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia.

Pisciotta L, Cantafora A, De Stefano F, Langheim S, Calandra S, Bertolini S. Pisciotta L, et al. Among authors: bertolini s. Biochim Biophys Acta. 2002 May 21;1587(1):7-11. doi: 10.1016/s0925-4439(02)00047-9. Biochim Biophys Acta. 2002. PMID: 12009418 Free article.

3

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

4

Molecular diagnosis of hypobetalipoproteinemia: an ENID review.

Tarugi P, Averna M, Di Leo E, Cefalù AB, Noto D, Magnolo L, Cattin L, Bertolini S, Calandra S. Tarugi P, et al. Among authors: bertolini s. Atherosclerosis. 2007 Dec;195(2):e19-27. doi: 10.1016/j.atherosclerosis.2007.05.003. Epub 2007 Jun 14. Atherosclerosis. 2007. PMID: 17570373 Review.

5

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: bertolini s. 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

6

Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene.

Tarugi P, Lonardo A, Gabelli C, Sala F, Ballarini G, Cortella I, Previato L, Bertolini S, Cordera R, Calandra S. Tarugi P, et al. Among authors: bertolini s. J Lipid Res. 2001 Oct;42(10):1552-61. J Lipid Res. 2001. PMID: 11590210 Free article.

7

Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia.

Priore Oliva C, Pisciotta L, Li Volti G, Sambataro MP, Cantafora A, Bellocchio A, Catapano A, Tarugi P, Bertolini S, Calandra S. Priore Oliva C, et al. Among authors: bertolini s. Arterioscler Thromb Vasc Biol. 2005 Feb;25(2):411-7. doi: 10.1161/01.ATV.0000153087.36428.dd. Epub 2004 Dec 9. Arterioscler Thromb Vasc Biol. 2005. PMID: 15591215

8

Beta-thalassemia is a modifying factor of the clinical expression of familial hypercholesterolemia.

Calandra S, Bertolini S, Pes GM, Deiana L, Tarugi P, Pisciotta L, Li Volti S, Li Volti G, Maccarone C. Calandra S, et al. Among authors: bertolini s. Semin Vasc Med. 2004 Aug;4(3):271-8. doi: 10.1055/s-2004-861495. Semin Vasc Med. 2004. PMID: 15630628 Review.

9

APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency.

Calandra S, Priore Oliva C, Tarugi P, Bertolini S. Calandra S, et al. Among authors: bertolini s. Curr Opin Lipidol. 2006 Apr;17(2):122-7. doi: 10.1097/01.mol.0000217892.00618.54. Curr Opin Lipidol. 2006. PMID: 16531747 Review.

10

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. Among authors: bertolini s. 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

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