Calandra S - 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: calandra s. Atherosclerosis. 2013 Apr;227(2):342-8. doi: 10.1016/j.atherosclerosis.2013.01.007. Epub 2013 Jan 19. Atherosclerosis. 2013. PMID: 23375686

2

RFLPs of the LDL-receptor gene: their use in the diagnosis of FH and in evaluation of different levels of gene expression on normal subjects.

Bertolini S, Coviello DA, Masturzo P, Zucchetto E, Elicio N, Balestreri R, Orecchini G, Calandra S, Humphries S. Bertolini S, et al. Among authors: calandra s. Eur J Epidemiol. 1992 May;8 Suppl 1:18-25. doi: 10.1007/BF00145345. Eur J Epidemiol. 1992. PMID: 1354622

3

A large deletion in the LDL receptor gene--the cause of familial hypercholesterolemia in three Italian families: a study that dates back to the 17th century (FH-Pavia).

Bertolini S, Lelli N, Coviello DA, Ghisellini M, Masturzo P, Tiozzo R, Elicio N, Gaddi A, Calandra S. Bertolini S, et al. Among authors: calandra s. Am J Hum Genet. 1992 Jul;51(1):123-34. Am J Hum Genet. 1992. PMID: 1609792 Free PMC article.

4

Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia.

Lelli N, Ghisellini M, Calandra S, Gaddi A, Ciarrocchi A, Coviello DA, Bertolini S. Lelli N, et al. Among authors: calandra s. Hum Genet. 1991 Feb;86(4):359-62. doi: 10.1007/BF00201833. Hum Genet. 1991. PMID: 1999337

5

Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis.

Arca M, Zuliani G, Wilund K, Campagna F, Fellin R, Bertolini S, Calandra S, Ricci G, Glorioso N, Maioli M, Pintus P, Carru C, Cossu F, Cohen J, Hobbs HH. Arca M, et al. Among authors: calandra s. Lancet. 2002 Mar 9;359(9309):841-7. doi: 10.1016/S0140-6736(02)07955-2. Lancet. 2002. PMID: 11897284

6

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: calandra 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.

7

Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene.

Altilia S, Pisciotta L, Garuti R, Tarugi P, Cantafora A, Calabresi L, Tagliabue J, Maccari S, Bernini F, Zanotti I, Vergani C, Bertolini S, Calandra S. Altilia S, et al. Among authors: calandra s. J Lipid Res. 2003 Feb;44(2):254-64. doi: 10.1194/jlr.M200248-JLR200. Epub 2002 Nov 4. J Lipid Res. 2003. PMID: 12576507 Free article.

8

Investigation into the role of apolipoprotein B gene 8344C/T variant on plasma cholesterol levels by allele-specific PCR amplification.

Cantafora A, Bertolini S, Blotta I, Rivabene R, Pisciotta L, Langheim S, Calandra S. Cantafora A, et al. Among authors: calandra s. Ann Ist Super Sanita. 2002;38(4):411-8. Ann Ist Super Sanita. 2002. PMID: 12760338

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: calandra s. Atherosclerosis. 2003 Apr;167(2):335-45. doi: 10.1016/s0021-9150(03)00020-0. Atherosclerosis. 2003. PMID: 12818417

10

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: calandra 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.

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