Pisciotta L - Search Results

1

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

2

The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene.

Marchetti GB, Milani D, Pisciotta L, Pezzoli L, Marchisio P, Rinaldi B, Iascone M. Marchetti GB, et al. Among authors: pisciotta l. Genes (Basel). 2024 May 22;15(6):654. doi: 10.3390/genes15060654. Genes (Basel). 2024. PMID: 38927590 Free PMC article.

3

Children and Adolescent Patients with Variants in the ATP1A3 -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction.

Srour MK, Bidzimou MK, Muralidharan P, Mitchell SM, Moya-Mendez ME, Parker LE, Valenzuela GR, Caraballo R, Garone G, Vigevano F, Weckhuysen S, Millevert C, Troncoso M, Matamala M, Balestrini S, Sisodiya SM, Poole J, Zucca C, Panagiotakaki E, Papadopoulou MT, Tchaicha S, Terzi MAP, Zawadzka M, Mazurkiewicz-Bełdzińska M, Fons C, Anticona J, De Grandis E, Cordani R, Pisciotta L, Groppa S, Paryjas S, Ragona F, Mangia E, Granata T, Megvinov A, Vavassori R, Mikati MA, Landstrom AP. Srour MK, et al. Among authors: pisciotta l. medRxiv [Preprint]. 2024 Oct 31:2024.08.31.24312446. doi: 10.1101/2024.08.31.24312446. medRxiv. 2024. PMID: 39252916 Free PMC article. Preprint.

4

Influence of beta(0)-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia : a study of patients with familial hypercholesterolemia from Sardinia.

Deiana L, Garuti R, Pes GM, Carru C, Errigo A, Rolleri M, Pisciotta L, Masturzo P, Cantafora A, Calandra S, Bertolini S. Deiana L, et al. Among authors: pisciotta l. Arterioscler Thromb Vasc Biol. 2000 Jan;20(1):236-43. doi: 10.1161/01.atv.20.1.236. Arterioscler Thromb Vasc Biol. 2000. PMID: 10634824

5

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. Among authors: pisciotta l. 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

6

A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease.

Bertolini S, Pisciotta L, Seri M, Cusano R, Cantafora A, Calabresi L, Franceschini G, Ravazzolo R, Calandra S. Bertolini S, et al. Among authors: pisciotta l. Atherosclerosis. 2001 Feb 15;154(3):599-605. doi: 10.1016/s0021-9150(00)00587-6. Atherosclerosis. 2001. PMID: 11257260

7

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. 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.

8

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: pisciotta l. 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.

9

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: pisciotta l. Ann Ist Super Sanita. 2002;38(4):411-8. Ann Ist Super Sanita. 2002. PMID: 12760338

10

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

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