BERTOLINI , Stefano

Last name: BERTOLINI

First name: Stefano

2002 (v1)

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

PISCIOTTA, LIVIA DE STEFANO, FRANCESCO BERTOLINI, STEFANO

Familial hypercholesterolemia (FH) is a common genetic disorder caused by mutations of the LDL-receptor gene and transmitted as a codominant trait. However, there are some forms of hypercholesterolemia which have a recessive type of transmission. We have identified a subject with the clinical phenotype of heterozygous FH whose parents had...

Uploaded on: April 14, 2023
2015 (v1)

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Lipoproteins, stroke and statins.

PISCIOTTA, LIVIA BERTOLINI, STEFANO PENDE, ALDO

Dyslipidemia represents one of the major risk factors for atherosclerosis affecting the arteries of large and medium caliber and consequently causing ischemia in the brain, heart, or legs. Coronary artery disease and cerebral stroke represent the major causes of morbidity and mortality among the elderly and middle aged subjects. The change of...

Uploaded on: April 14, 2023
2012 (v1)

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Nutraceutical pill containing berberine versus ezetimibe on plasma lipid pattern in hypercholesterolemic subjects and its additive effect in patients with familial hypercholesterolemia on stable cholesterol-lowering treatment.

PISCIOTTA, LIVIA Bellocchio A BERTOLINI, STEFANO

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Uploaded on: April 14, 2023
2008 (v1)

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Correlation between Progetto Cuore risk score and early cardiovascular damage in never treated subjects

PENDE, ALDO BERTOLINI, STEFANO GRONDONA C

Valutazione della correlazione tra un punteggio di rischio validato, quale quello del Progetto Cuore per la popolazione italiana, ed il danno cardiovascolare subclinico in un' ampia popolazione di soggetti affetti da seindrome metabolica

Uploaded on: April 14, 2023
2015 (v1)

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Pharmacological treatment of a Sardinian patient affected by autosomal recessive hypercholesterolemia (ARH)

Sandro, Muntoni PISCIOTTA, LIVIA Sergio, Muntoni

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Uploaded on: April 14, 2023
2005 (v1)

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Denaturing high-performance liquid chromatography (DHPLC) in the detection of mutations of ABCA1 gene in Familial HDL Deficiency.

FASANO T BOCCHI L PISCIOTTA, LIVIA

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Uploaded on: March 27, 2023
2003 (v1)

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Evaluation of RNA messangers involved in lipid trafficking of human intestinal cells by RT-PCR with competimer technology and microchip electrophoresis.

CANTAFORA A BLOTTA I RIVABENE R

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Uploaded on: April 14, 2023
2004 (v1)

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Quantitative polymerase chain reaction and microchip electrophoresis to detect major rearrangements of the low-density lipoprotein receptor gene causing familial hypercholesterolemia.

Cantafora A Blotta I Pino E

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Uploaded on: April 14, 2023
2012 (v1)

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Leucine 10 allelic variant in signal peptide of PCSK9 increases the LDL cholesterol-lowering effect of statins in patients with familial hypercholesterolaemia.

PISCIOTTA, LIVIA BERTOLINI, STEFANO Sallo R

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Uploaded on: March 31, 2023
1990 (v1)

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Use of three DNA polymorphisms of the LDL-receptor gene in the diagnosis of Familial Hypercholesterolemia.

DAGA A MATTIONI T COVIELLO DA

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Uploaded on: December 5, 2022
1985 (v1)

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Insulin receptor binding on red cells of hypertriglyceridemic patients. Effect of a low fat, low carbohydrate diet.

CORDERA, RENZO BERTOLINI, STEFANO ANDRAGHETTI, GABRIELLA

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Uploaded on: March 31, 2023
2009 (v1)

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An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia.

RABACCHI C WUNSCH A GHISELLINI M

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Uploaded on: March 31, 2023
2000 (v1)

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A study of fatty liver disease and plasma lipoproteins in a kindred with Familial Hypobeta-lipoproteinemia due to a novel truncated form of apolipoprotein B (Apo B 54.5).

TARUGI P LONARDO A BALLARINI G

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Uploaded on: December 5, 2022
1997 (v1)

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Four novel mutations of sterol-27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis.

GARUTI R CROCE MA TIOZZO R

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Uploaded on: December 5, 2022
1991 (v1)

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Duplication of exons 13, 14 and 15 of LDL-receptor gene in a patient with heterozygous Familial Hypercholesterolemia.

LELLI N GHISELLINI M CALANDRA S

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Uploaded on: December 5, 2022
2011 (v1)

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Two novel rare variants of APOA5 gene found in subjects with severe hypertrigliceridemia.

PISCIOTTA, LIVIA R. Fresa A. Bellocchio

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Uploaded on: April 14, 2023
2008 (v1)

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A novel mutation of the apolipoprotein A-I gene in a family with familial combined hyperlipidemia

PISCIOTTA, LIVIA FASANO T. CALABRESI L.

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Uploaded on: April 14, 2023
2010 (v1)

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Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease.

Bocchi L PISCIOTTA, LIVIA Fasano T

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Uploaded on: April 14, 2023

BERTOLINI , Stefano

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