Stefano Bertolini

Stefano Bertolini

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Stefano Bertolini

Stefano Bertolini

Publications by authors named "Stefano Bertolini"

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Angiopoietin-like protein 3 (ANGPTL3) deficiency and familial combined hypolipidemia.

J Biomed Res 2019 Apr;33(2):73-81

Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena 41125, Italy.

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http://dx.doi.org/10.7555/JBR.32.20170114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6477171PMC
April 2019

Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride.

J Clin Lipidol 2017 Nov - Dec;11(6):1329-1337.e3. Epub 2017 Sep 4.

Department of Biomedical, Metabolic and Neural Sciences, University of Modena & Reggio Emilia, Modena, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2017.08.017DOI Listing
July 2018

Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency.

Orphanet J Rare Dis 2018 01 27;13(1):24. Epub 2018 Jan 27.

Department of Internal Medicine, University of Genoa, Viale Benedetto XV 6, 16132, Genoa, Italy.

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http://dx.doi.org/10.1186/s13023-018-0768-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5787265PMC
January 2018

Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene.

J Clin Lipidol 2016 Jul-Aug;10(4):915-921.e4. Epub 2016 Mar 23.

Department of Life Sciences, University of Modena and Reggio Emilia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2016.03.009DOI Listing
October 2017

Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations.

J Clin Lipidol 2016 Jul-Aug;10(4):944-952.e1. Epub 2016 Apr 21.

Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2016.04.005DOI Listing
October 2017

The study of familial hypercholesterolemia in Italy: A narrative review.

Atheroscler Suppl 2017 Oct;29:1-10

Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosissup.2017.07.003DOI Listing
October 2017

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.

Atheroscler Suppl 2017 Oct;29:17-24

Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy; IRCCS MultiMedica, Sesto S. Giovanni, Milan, Italy.

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http://dx.doi.org/10.1016/j.atherosclerosissup.2017.07.002DOI Listing
October 2017

Impact of rare variants in autosomal dominant hypercholesterolemia causing genes.

Curr Opin Lipidol 2017 Jun;28(3):267-272

aDepartment of Biomedical, Metabolic and Neural Sciences bDepartment of Life Sciences, University of Modena and Reggio Emilia, Modena cDepartment of Internal Medicine, University of Genova, Genova, Italy.

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http://dx.doi.org/10.1097/MOL.0000000000000414DOI Listing
June 2017

Corrigendum to "Molecular diagnosis of hypobetalipoproteinemia: An ENID review" [Atherosclerosis 195 (2) (2007) 19-27].

Atherosclerosis 2016 10 12;253:e1. Epub 2016 May 12.

Department of Biomedical Sciences, University of Modena e Reggio Emilia, Via Campi 287, I-41100, Modena, Italy.

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http://dx.doi.org/10.1016/j.atherosclerosis.2016.05.010DOI Listing
October 2016

Lipoproteins, stroke and statins.

Curr Vasc Pharmacol 2015 ;13(2):202-8

Clinic of Internal Medicine 1, University of Genoa School of Medicine, Viale Benedetto XV 6, 16132 Genoa, Italy.

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February 2016

A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene.

J Clin Lipidol 2015 Mar-Apr;9(2):265-70. Epub 2014 Oct 13.

Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2014.10.003DOI Listing
January 2016

Pharmacological treatment of a Sardinian patient affected by Autosomal Recessive Hypercholesterolemia (ARH).

J Clin Lipidol 2015 Jan-Feb;9(1):103-6. Epub 2014 Aug 30.

Department of Internal Medicine, University of Genova, Italy.

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http://dx.doi.org/10.1016/j.jacl.2014.08.009DOI Listing
October 2015

Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.

Atherosclerosis 2015 Jul 1;241(1):79-86. Epub 2015 May 1.

Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2015.04.815DOI Listing
July 2015

The history of Autosomal Recessive Hypercholesterolemia (ARH). From clinical observations to gene identification.

Gene 2015 Jan 16;555(1):23-32. Epub 2014 Sep 16.

Department of Internal Medicine, University of Genova, Viale Bendetto XV, I-16132 Genova, Italy.

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http://dx.doi.org/10.1016/j.gene.2014.09.020DOI Listing
January 2015

Microsomal transfer protein (MTP) inhibition-a novel approach to the treatment of homozygous hypercholesterolemia.

Ann Med 2014 Nov 2;46(7):464-74. Epub 2014 Jul 2.

Dyslipidemia Center, Niguarda Hospital , Milano , Italy.

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http://dx.doi.org/10.3109/07853890.2014.931100DOI Listing
November 2014

Severe hypertriglyceridemia in a newborn with monogenic lipoprotein lipase deficiency: an unconventional therapeutic approach with exchange transfusion.

JIMD Rep 2014 20;13:59-64. Epub 2013 Oct 20.

NICU, Department of Clinical Sciences and Community Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Via Commenda 12, 20122, Milan, Italy,

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http://dx.doi.org/10.1007/8904_2013_272DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110331PMC
July 2014

Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.

Atherosclerosis 2014 Jul 15;235(1):21-30. Epub 2014 Apr 15.

Lipid Clinic, Endocrinology & Nutrition Service, Institut d'Investigations Biomèdiques August Pi Sunyer, Hospital Clínic, C. Villarroel, 170, 08036 Barcelona, Spain; CIBER Fisiopatología de la Obesidad y Nutrición (CIBERobn), Instituto de Salud Carloss III (ISCIII), Spain. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2014.04.003DOI Listing
July 2014

Lipoprotein glomerulopathy associated with a mutation in apolipoprotein e.

Clin Med Insights Case Rep 2013 5;6:189-96. Epub 2013 Dec 5.

Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia.

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http://dx.doi.org/10.4137/CCRep.S12209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3859823PMC
December 2013

A silent mutation of Niemann-Pick C1-like 1 and apolipoprotein E4 modulate cholesterol absorption in primary hyperlipidemias.

J Clin Lipidol 2013 Mar-Apr;7(2):147-52. Epub 2012 Dec 20.

Department of Clinical and Experimental Medicine, Internal Medicine, Angiology and Atherosclerosis, Santa Maria della Misericordia Hospital, University of Perugia, Perugia, Italy.

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http://dx.doi.org/10.1016/j.jacl.2012.12.003DOI Listing
August 2013

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

Atherosclerosis 2013 Apr 19;227(2):342-8. Epub 2013 Jan 19.

Department of Internal Medicine, University of Genova, Viale Benedetto XV, no. 6, I-16132 Genova, Italy.

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http://dx.doi.org/10.1016/j.atherosclerosis.2013.01.007DOI Listing
April 2013

A three month-old infant with severe hyperchylomicronemia: molecular diagnosis and extracorporeal treatment.

Atheroscler Suppl 2013 Jan;14(1):73-6

Extracorporeal Therapeutic Unit, Immunohematology and Transfusion Medicine, Department of Molecular Medicine, University of Rome Sapienza, Umberto I' Hospital, 155, Viale del Policlinico, I-00161 Rome, Italy.

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http://dx.doi.org/10.1016/j.atherosclerosissup.2012.10.020DOI Listing
January 2013

Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.

Mol Genet Metab 2012 Mar 17;105(3):450-6. Epub 2011 Dec 17.

Department of Biomedical Sciences, University of Modena and Reggio Emilia, Via Campi 287, Modena, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2011.12.008DOI Listing
March 2012

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

Clin Chim Acta 2011 Nov 7;412(23-24):2194-8. Epub 2011 Aug 7.

Department of Internal Medicine, University of Genoa, Viale Benedetto XV n. 6, 16132 Genoa, Italy.

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http://dx.doi.org/10.1016/j.cca.2011.08.001DOI Listing
November 2011

Altered mRNA splicing in lipoprotein disorders.

Curr Opin Lipidol 2011 Apr;22(2):93-9

Department of Biomedical Sciences, University of Modena & Reggio Emilia, Modena, Italy.

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http://dx.doi.org/10.1097/MOL.0b013e3283426ebcDOI Listing
April 2011

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

Clin Chim Acta 2010 Apr 20;411(7-8):524-30. Epub 2010 Jan 20.

Department of Biomedical Sciences, University of Modena and Reggio Emilia, Italy.

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http://dx.doi.org/10.1016/j.cca.2010.01.008DOI Listing
April 2010

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

Clin Chim Acta 2009 Aug 23;406(1-2):75-80. Epub 2009 May 23.

Department of Biomedical Sciences, University of Modena and Reggio Emilia, Via Campi 287, I-41100 Modena, Italy.

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http://dx.doi.org/10.1016/j.cca.2009.05.017DOI Listing
August 2009

Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene.

Mol Genet Metab 2009 Jun 26;97(2):143-8. Epub 2009 Feb 26.

Department of Internal Medicine, University of Genoa, Viale Benedetto XV 6, I-16132 Genoa, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2009.02.007DOI Listing
June 2009

Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.

Mol Genet Metab 2009 Feb 11;96(2):66-72. Epub 2008 Dec 11.

Department of Biomedical Sciences, University of Modena and Reggio Emilia, Via Campi 287, I-41100 Modena, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2008.10.016DOI Listing
February 2009

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

Cardiovasc Ultrasound 2008 Sep 22;6:47. Epub 2008 Sep 22.

Department of Internal Medicine, University of Genoa School of Medicine, Genoa, Italy.

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http://cardiovascularultrasound.biomedcentral.com/articles/1
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http://dx.doi.org/10.1186/1476-7120-6-47DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2556661PMC
September 2008

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

Atherosclerosis 2008 May 24;198(1):145-51. Epub 2007 Oct 24.

Department of Internal Medicine, University of Genoa, Viale Benedetto XV 6, I-16132 Genoa, Italy.

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http://dx.doi.org/10.1016/j.atherosclerosis.2007.09.017DOI Listing
May 2008

Molecular diagnosis of hypobetalipoproteinemia: an ENID review.

Atherosclerosis 2007 Dec 14;195(2):e19-27. Epub 2007 Jun 14.

Department of Biomedical Sciences, University of Modena e Reggio Emilia, Via Campi 287, I-41100 Modena, Italy.

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http://dx.doi.org/10.1016/j.atherosclerosis.2007.05.003DOI Listing
December 2007

Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients.

Atherosclerosis 2007 Oct 30;194(2):e116-22. Epub 2006 Nov 30.

Department of Internal Medicine, University of Genoa, Viale Benedetto XV 6, I-16132 Genoa, Italy.

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http://dx.doi.org/10.1016/j.atherosclerosis.2006.10.036DOI Listing
October 2007

Molecular characterization of two patients with severe LCAT deficiency.

Nephrol Dial Transplant 2007 Aug 25;22(8):2379-82. Epub 2007 May 25.

Cardiovascular Research Group, University of Manchester, Manchester Royal Infirmary, Manchester, UK.

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http://dx.doi.org/10.1093/ndt/gfm311DOI Listing
August 2007

APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency.

Curr Opin Lipidol 2006 Apr;17(2):122-7

Department of Biomedical Sciences, University of Modena and Reggio Emilia, Modena, Italy.

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http://dx.doi.org/10.1097/01.mol.0000217892.00618.54DOI Listing
April 2006

Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia.

Atherosclerosis 2005 Jun 19;180(2):311-8. Epub 2005 Jan 19.

Department of Biomedical Sciences, University of Modena and Reggio Emilia, Via Campi 287, I-41100 Modena, Italy.

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http://dx.doi.org/10.1016/j.atherosclerosis.2004.12.004DOI Listing
June 2005

Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency.

J Lipid Res 2005 Apr 1;46(4):817-22. Epub 2005 Feb 1.

Department of Biomedical Sciences, University of Modena & Reggio Emilia, Modena, Italy.

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http://dx.doi.org/10.1194/jlr.D400038-JLR200DOI Listing
April 2005

Inherited apolipoprotein A-V deficiency in severe hypertriglyceridemia.

Arterioscler Thromb Vasc Biol 2005 Feb 9;25(2):411-7. Epub 2004 Dec 9.

Department of Biomedical Sciences, University of Modena and Reggio Emilia, Italy.

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http://dx.doi.org/10.1161/01.ATV.0000153087.36428.ddDOI Listing
February 2005

A 33-year-old man with nephrotic syndrome and lecithin-cholesterol acyltransferase (LCAT) deficiency. Description of two new mutations in the LCAT gene.

Nephrol Dial Transplant 2004 Jun;19(6):1622-4

Nephrology, Dialysis and Renal Transplantation Unit, St Orsola University Hospital, Via Massarenti 9, 40137 Bologna, Italy.

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http://dx.doi.org/10.1093/ndt/gfh179DOI Listing
June 2004

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

Biochim Biophys Acta 2004 Jan;1688(1):61-7

Department of Biomedical Sciences, University of Modena and Reggio Emilia, Via Campi 287, I-41100 Modena, Italy.

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http://dx.doi.org/10.1016/j.bbadis.2003.11.002DOI Listing
January 2004

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

Ann Ist Super Sanita 2002 ;38(4):411-8

Laboratorio di Metabolismo e Biochimica Patologica, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Roma.

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June 2003

Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency.

Atherosclerosis 2003 Apr;167(2):335-45

Department of Internal Medicine, University of Genoa, Viale Benedetto XV 6, I-16132 Genoa, Italy.

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April 2003

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

Biochim Biophys Acta 2002 May;1587(1):7-11

Department of Internal Medicine, University of Genoa, Viale Benedetto XV, 6 16132, Italy.

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http://dx.doi.org/10.1016/s0925-4439(02)00047-9DOI Listing
May 2002

Functional analysis of the promoter of human sterol 27-hydroxylase gene in HepG2 cells.

Gene 2002 Jan;283(1-2):133-43

Dipartimento di Scienze Biomediche, Università di Modena e Reggio Emilia, Via Campi 287, I-41100, Modena, Italy.

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January 2002