Bertolini S - Search Results

1

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.

2

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.

3

Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia.

Bertolini S, Pisciotta L, Di Scala L, Langheim S, Bellocchio A, Masturzo P, Cantafora A, Martini S, Averna M, Pes G, Stefanutti C, Calandra S. Bertolini S, et al. Atherosclerosis. 2004 May;174(1):57-65. doi: 10.1016/j.atherosclerosis.2003.12.037. Atherosclerosis. 2004. PMID: 15135251

4

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

5

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

6

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

7

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: bertolini s. Atherosclerosis. 2008 May;198(1):145-51. doi: 10.1016/j.atherosclerosis.2007.09.017. Epub 2007 Oct 24. Atherosclerosis. 2008. PMID: 17950741

8

Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.

Bertolini S, Cantafora A, Averna M, Cortese C, Motti C, Martini S, Pes G, Postiglione A, Stefanutti C, Blotta I, Pisciotta L, Rolleri M, Langheim S, Ghisellini M, Rabbone I, Calandra S. Bertolini S, et al. Arterioscler Thromb Vasc Biol. 2000 Sep;20(9):E41-52. doi: 10.1161/01.atv.20.9.e41. Arterioscler Thromb Vasc Biol. 2000. PMID: 10978268

9

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

10

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

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