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List of works by Robert A. Hegele

2009 Canadian Cardiovascular Society/Canadian guidelines for the diagnosis and treatment of dyslipidemia and prevention of cardiovascular disease in the adult - 2009 recommendations

scientific article published on October 2009

2012 update of the Canadian Cardiovascular Society guidelines for the diagnosis and treatment of dyslipidemia for the prevention of cardiovascular disease in the adult

scientific article published on February 2013

2016 Canadian Cardiovascular Society Guidelines for the Management of Dyslipidemia for the Prevention of Cardiovascular Disease in the Adult

scientific article

3D ultrasound imaging of the carotid arteries

scientific article published on June 2004

A BRCA1 mutation in Native North American families

scientific article

A De Novo Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome

scientific article published on 01 January 2018

A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems

article

A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.

scientific article published on 15 December 2017

A Young Male with Parafibromin-Deficient Parathyroid Carcinoma Due to a Rare Germline HRPT2/CDC73 Mutation

scientific article published on 01 December 2018

A common hypofunctional genetic variant of GPER is associated with increased blood pressure in women

scientific article

A comparison of ultrasound measurements to assess carotid atherosclerosis development in subjects with and without type 2 diabetes

scientific article

A glimpse at HDL-based therapy for atherosclerosis

scientific article published on February 2004

A hepatic lipase gene mutation associated with heritable lipolytic deficiency

scientific article (publication date: March 1991)

A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype

scientific article published on 17 February 2015

A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.

scientific article

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

scientific article published on 11 April 2016

A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy

scientific article published on 16 September 2014

A novel MC4R mutation associated with childhood-onset obesity: A case report

scientific article

A novel mutation in GPIHBP1 causes familial chylomicronemia syndrome

scientific article published on 31 January 2018

A novel nonsense apolipoprotein A-I mutation (apoA-I(E136X)) causes low HDL cholesterol in French Canadians

scientific article

A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia

scientific article

A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia

scientific article published on 05 August 2009

A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America

scientific article published on 11 April 2012

A single nucleotide polymorphism in protein tyrosine phosphatase PTP-1B is associated with protection from diabetes or impaired glucose tolerance in Oji-Cree

scientific article published on February 2002

A single-base mutation in the peroxisome proliferator-activated receptor gamma4 promoter associated with altered in vitro expression and partial lipodystrophy

scientific article published on November 2004

A tale of 2 cousins: An atypical and a typical case of abetalipoproteinemia

scientific article published on 13 February 2016

A tip of the CAP1 to cholesterol metabolism

scientific article published on 01 January 2020

A translational view of the genetics of lipodystrophy and ectopic fat deposition

scientific article published on January 1, 2010

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis

scientific article

ABC transporters and sterol absorption

scientific article

APOA1 related amyloidosis: a case report and literature review

scientific article published on November 2003

APOC1 T45S polymorphism is associated with reduced obesity indices and lower plasma concentrations of leptin and apolipoprotein C-I in aboriginal Canadians

scientific article

APOE p.Leu167del mutation in familial hypercholesterolemia.

scientific article

ARHGEF28 p.Lys280Metfs40Ter in an amyotrophic lateral sclerosis family with a C9orf72 expansion

scientific article published on 22 September 2017

Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management

scientific article

Abetalipoproteinemia: two case reports and literature review

scientific article

Adipokines and incident type 2 diabetes in an Aboriginal Canadian [corrected] population: the Sandy Lake Health and Diabetes Project

scientific article published on 13 March 2008

Advances in genomic analysis of stroke: what have we learned and where are we headed?

scientific article published on 18 February 2010

Advances in stroke 2009: update on the genetics of stroke and cerebrovascular disease 2009.

scientific article published on 14 January 2010

Adverse effects of statin therapy: perception vs. the evidence - focus on glucose homeostasis, cognitive, renal and hepatic function, haemorrhagic stroke and cataract

Allelic and phenotypic spectrum of plasma triglycerides

scientific article published on 12 October 2011

Alstrom syndrome (OMIM 203800): a case report and literature review

scientific article

Alternate day dosing of rosuvastatin: potential usefulness in statin-intolerant patients

scientific article published on August 2009

An apolipoprotein CII mutation, CIILys19----Thr' identified in patients with hyperlipidemia

scientific article published on March 1, 1991

An imaging study of body composition including lipodeposition pattern in a patient of familial partial lipodystrophy (Dunnigan type).

scientific article published in October 2005

An increased burden of common and rare lipid-associated risk alleles contributes to the phenotypic spectrum of hypertriglyceridemia

scientific article published on 19 May 2011

Analysis of a missense variant of the human N-formyl peptide receptor that is associated with agonist-independent beta-arrestin association and indices of inflammation

scientific article published on 5 September 2006

Angiotensinogen M235T genotype predicts progression in chronic renal allograft dysfunction

scientific article

Angiotensinogen gene variation associated with variation in blood pressure in aboriginal Canadians

scientific article published in May 1997

Ankyrin G overexpression in Hutchinson-Gilford progeria syndrome fibroblasts identified through biological filtering of expression profiles

scientific article

Apolipoprotein C-III: going back to the future for a lipid drug target

scientific article published in May 2013

Assembly and secretion of very low density lipoproteins containing apolipoprotein B48 in transfected McA-RH7777 cells. Lack of evidence that palmitoylation of apolipoprotein B48 is required for lipoprotein secretion

scientific article published on 11 February 2003

Assessing the association of the HNF1A G319S variant with C-reactive protein in Aboriginal Canadians: a population-based epidemiological study

scientific article

Association between the -455T>C promoter polymorphism of the APOC3 gene and the metabolic syndrome in a multi-ethnic sample

scientific article

Association between the FTO rs9939609 polymorphism and the metabolic syndrome in a non-Caucasian multi-ethnic sample

scientific article published on 13 March 2008

Association of apolipoprotein B with incident type 2 diabetes in an aboriginal Canadian population

scientific article published on 28 January 2010

Association of parity with risk of type 2 diabetes and related metabolic disorders

scientific article published in April 2002

Association of the novel cardiovascular risk factors paraoxonase 1 and cystatin C in type 2 diabetes

scientific article published on 18 January 2009

Associations of plasma homocysteine and the methylenetetrahydrofolate reductase C677T polymorphism with carotid intima media thickness among South Asian, Chinese and European Canadians

scientific article published in October 2004

Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR Mutation

scientific article

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

scientific article

BRCA2 variants and cardiovascular disease in a multi-ethnic study

scientific article

Barriers to the Implementation of Lipoprotein Apheresis in Canada

scientific article published on 21 January 2017

Beta blockers normalize QT hysteresis in long QT syndrome

scientific article

Bioinformatic detection of copy number variation in HNF4A causing maturity onset diabetes of the young

scientific article published on 15 July 2019

Biological, clinical and population relevance of 95 loci for blood lipids

scientific article

Biophysical characteristics of a new mutation on the KCNQ1 potassium channel (L251P) causing long QT syndrome

scientific article published on February 1, 2003

Blood pressure among the Inuit (Eskimo) populations in the Arctic

scientific article published in January 2003

Bradykinin stimulates a rise in cytosolic calcium in renal glomerular mesangial cells via a pertussis toxin insensitive pathway

scientific article

CETP Inhibitors - A New Inning?

scientific article published in September 2017

CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism

scientific article

Can one overcome "unhealthy genes"?

scientific article published on 02 October 2019

Canadian Cardiovascular Society position statement on familial hypercholesterolemia

scientific article

Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I

scientific article published on 29 January 2009

Carotid Ultrasound in One, Two and Three Dimensions

article

Case Report: Heterogeneity of Aldolase B in Hereditary Fructose Intolerance

scientific article published on December 1, 1991

Causal relationship between adiponectin and metabolic traits: a Mendelian randomization study in a multiethnic population

scientific article

Cerebral cholesterol granuloma in homozygous familial hypercholesterolemia

scientific article

Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians

scientific article published in June 2003

Characterization of high density lipoprotein particles in familial apolipoprotein A-I deficiency

scientific article published on 8 November 2007

Cholesteryl ester transfer protein inhibitors for dyslipidemia: focus on dalcetrapib

scientific article published on 24 September 2012

Chylomicronaemia--current diagnosis and future therapies

scientific article

Chylomicronemia: Differences between familial chylomicronemia syndrome and multifactorial chylomicronemia

scientific article published on 28 December 2018

ClinVar database of global familial hypercholesterolemia-associated DNA variants

scientific article published on 01 November 2018

Clinical Equivalence of Proprietary and Generic Atorvastatin in Lipid Clinic Patients

scientific article published on July 26, 2012

Clinical Utility and Practical Considerations of a Coronary Artery Disease Genetic Risk Score

scientific article published on 29 March 2019

Clinical and Pharmacogenetic Predictors of Circulating Atorvastatin and Rosuvastatin Concentrations in Routine Clinical Care

scientific article published on July 22, 2013

Clinical and biochemical features of different molecular etiologies of familial chylomicronemia

scientific article

Clinical and public health assessment of benefits and risks of statins in primary prevention of coronary events: resolved and unresolved issues

scientific article published on April 2008

Clinical field-strength MRI of amyloid plaques induced by low-level cholesterol feeding in rabbits

scientific article published on 17 March 2009

Clinical review on triglycerides

scientific article published on 01 January 2020

Clinical utility gene card for: Abetalipoproteinaemia

scientific article published on February 29, 2012

Clinical utility gene card for: Abetalipoproteinaemia--Update 2014.

scientific article published on 22 October 2014

Clinical utility gene card for: Familial Hypobetalipoproteinaemia (APOB)

scientific article published on May 16, 2012

Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB)--Update 2014.

scientific article published on 22 October 2014

Clinical utility gene card for: Sitosterolaemia.

scientific article

Clinical utility gene card for: Tangier disease.

scientific article

Combined hyperlipidemia: familial but not (usually) monogenic

scientific article published on 24 December 2015

Common low-density lipoprotein receptor p.G116S variant has a large effect on plasma low-density lipoprotein cholesterol in circumpolar inuit populations

scientific article

Common variants APOC3, APOA5, APOE and PON1 are associated with variation in plasma lipoprotein traits in Greenlanders

scientific article

Comparative efficacy and safety of pravastatin, nicotinic acid and the two combined in patients with hypercholesterolemia

article

Comparison of gadofluorine-M and Gd-DTPA for noninvasive staging of atherosclerotic plaque stability using MRI

scientific article published on 24 March 2009

Complete Apo AI deficiency in an Iraqi Mandaean family: case studies and review of the literature

scientific article published on June 2010

Complex effects of laminopathy mutations on nuclear structure and function

Complex genetic architecture in severe hypobetalipoproteinemia

scientific article published on 14 March 2018

Complex trait locus linkage mapping in atherosclerosis: time to take a step back before moving forward?

scientific article

Complexity of mechanisms among human proprotein convertase subtilisin-kexin type 9 variants

scientific article

Complications of Type 2 Diabetes Among Aboriginal Canadians: prevalence and associated risk factors

scientific article published in August 2005

Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency

scientific article

Comprehensive analysis of genomic variation in the LPA locus and its relationship to plasma lipoprotein(a) in South Asians, Chinese, and European Caucasians

scientific article

Congenital and acquired long QT syndromes

scientific article

Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation

scientific article

Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals

scientific article

Contribution of rare variant associations to neurodegenerative disease presentation

scientific article published on 28 September 2021

Copy Number Variation in GCK in patients with Maturity-Onset Diabetes of the Young

scientific article published on 01 August 2019

Copy number variation in metabolic phenotypes

scientific article published on January 2008

Copy number variation in the human genome and its implications for cardiovascular disease

scientific article published on June 2007

Copy-number variations add a new layer of complexity in the human genome

scientific article published on February 2007

Copy-number variations and human disease

scientific article published on August 2007

Cross-Sectional and Prospective Associations between Abdominal Adiposity and Proinsulin Concentration

scientific article published on January 1, 2002

Current Phase II proprotein convertase subtilisin/kexin 9 inhibitor therapies for dyslipidemia

scientific article published on July 26, 2013

Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies

scientific article

DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency

scientific article

DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency

scientific article

DNA polymorphisms of lipase related genes

scientific article published on August 2003

Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel

scientific article published on 27 May 2016

Depression, marijuana use and early-onset marijuana use conferred unique effects on neural connectivity and cognition

scientific article published on 27 August 2016

Detection of a novel frameshift mutation and regions with homozygosis within ARHGEF28 gene in familial amyotrophic lateral sclerosis

scientific article published on 4 January 2013

Determination of lipoprotein(a) kringle repeat number from genomic DNA: copy number variation genotyping using qPCR.

scientific article published on 05 December 2008

Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics

article

Diagnosis, Prevention, and Management of Statin Adverse Effects and Intolerance: Canadian Consensus Working Group Update (2016).

scientific article published on 14 January 2016

Diagnosis, prevention, and management of statin adverse effects and intolerance: Canadian Working Group Consensus update

scientific article

Diagnosis, prevention, and management of statin adverse effects and intolerance: proceedings of a Canadian Working Group Consensus Conference

scientific article

Differences between carotid wall morphological phenotypes measured by ultrasound in one, two and three dimensions

scientific article published in February 2005

Dyslipidemia.

scientific article

ERRATUM: Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

article by Matthew B. Lanktree et al published June 2012 in American Journal of Human Genetics

Effect of change in posture and exercise on repolarization in patients with long QT syndrome with HERG channel mutations.

scientific article published in January 2005

Efficacy and Plasma Drug Concentrations With Nondaily Dosing of Rosuvastatin

scientific article published on March 5, 2013

Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study

scientific article published on November 2, 2012

Efficacy and safety of pioglitazone in treatment of a patient with an atypical partial lipodystrophy syndrome

scientific article published on October 2007

Efficacy of Evolocumab in Monogenic vs Polygenic Hypercholesterolemia

scientific article published on 15 March 2019

Elevated serum C-reactive protein and free fatty acids among nondiabetic carriers of missense mutations in the gene encoding lamin A/C (LMNA) with partial lipodystrophy

scientific article published in January 2003

Enhanced synthesis of the oxysterol 24(S),25-epoxycholesterol in macrophages by inhibitors of 2,3-oxidosqualene:lanosterol cyclase: a novel mechanism for the attenuation of foam cell formation

scientific article published on 25 September 2003

Environmental modulation of atherosclerosis end points in familial hypercholesterolemia

scientific article

Enzyme-sensitive magnetic resonance imaging targeting myeloperoxidase identifies active inflammation in experimental rabbit atherosclerotic plaques

scientific article published on 3 August 2009

Erratum to “Differences between carotid wall morphological phenotypes measured by ultrasound in one, two and three dimensions” [Atherosclerosis 178(2) (2005) 319–325]

scholarly article published in Atherosclerosis

Estrogen-associated severe hypertriglyceridemia with pancreatitis

scientific article

Evaluation of adipose tissue volume quantification with IDEAL fat-water separation

scientific article

Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype

scientific article published on 04 March 2021

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

scientific journal article

Excess of rare variants in non-genome-wide association study candidate genes in patients with hypertriglyceridemia

scientific article published on December 2011

Exome sequencing as a diagnostic tool for pediatric-onset ataxia

scientific article published in January 2014

Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency

scientific article

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

scientific article

Exome sequencing: new insights into lipoprotein disorders

scientific article published on July 2014

Extreme hypertriglyceridemia: Genetic diversity, pancreatitis, pregnancy, and prevalence

scientific article published in 2018

Extremes of unexplained variation as a phenotype: an efficient approach for genome-wide association studies of cardiovascular disease

scientific article

Ezetimibe plus simvastatin for the treatment of hypercholesterolemia

scientific article published on 28 April 2015

Ezetimibe prescriptions in older Canadian adults after an acute myocardial infarction: a population-based cohort study

scientific article

Familial hypercholesterolaemia

scientific article published on 7 December 2017

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.

scientific article

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society

scientific article

Familial hypercholesterolemia in Canada: Initial results from the FH Canada national registry

article

Familial hypobetalipoproteinemia due to a novel early stop mutation

scientific article published on August 23, 2008

Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis

scientific article

Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma

scientific article published on 13 February 2007

Familial partial lipodystrophy presenting as metabolic syndrome

scientific article published in September 2016

Fatty liver in a non-obese patient.

scientific article

Food Effect on Rosuvastatin Disposition and Low-Density Lipoprotein Cholesterol

scientific article published on 8 December 2017

Free fatty acid-mediated impairment of glucose-stimulated insulin secretion in nondiabetic Oji-Cree individuals from the Sandy Lake community of Ontario, Canada: a population at very high risk for developing type 2 diabetes

scientific article published in June 2003

Functional foods and dietary supplements for the management of dyslipidaemia

scientific article published on 30 January 2017

Functional linkage between the endoplasmic reticulum protein Hsp47 and procollagen expression in human vascular smooth muscle cells

scientific article (publication date: 11 October 2002)

Functional promoter polymorphism in SREBP cleavage-activating protein (SCAP).

scientific article

G Protein β3 Subunit Gene Variant and Blood Pressure Variation in Canadian Oji-Cree

scientific article published on October 1, 1998

G-protein estrogen receptor as a regulator of low-density lipoprotein cholesterol metabolism: cellular and population genetic studies

scientific article

G-protein polymorphisms and maternal/neonatal metabolism: still a weight for the answer

scientific article published in April 2000

GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY)

article

Gene therapy for hypercholesterolemia: sweet dreams and flying machines

scientific article published in August 2014

Gene therapy with lipoprotein lipase variant S447X.

scientific article published in March 2006

Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations

scientific article published on 17 December 2013

Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations

scientific article

Gene-diet interactions on plasma lipid levels in the Inuit population

scientific article published on 5 July 2012

Gene-drug interaction: additive influence of mutant APOA1 and testosterone on plasma HDL-cholesterol

scientific article published in July 2002

Gene-gene and gene-environment interactions: new insights into the prevention, detection and management of coronary artery disease

scientific article published on 26 February 2009

Genes, environment and Oji-Cree type 2 diabetes

scientific article published on May 1, 2003

Genes, environment and diabetes in Canadian aboriginal communities.

scientific article published in January 2001

Genetic Confirmation Rate in Clinically Suspected Maturity-Onset Diabetes of the Young

scientific article published on 12 September 2016

Genetic Determinants of Myocardial Infarction Risk in Familial Hypercholesterolemia

scientific article published on 02 July 2019

Genetic Determinants of “Cognitive Impairment, No Dementia”

scientific article published on January 1, 2013

Genetic and biochemical factors associated with variation in blood pressure in a genetic isolate

scientific article published in February 1996

Genetic and physiological insights into the metabolic syndrome

scientific article

Genetic and secondary causes of severe HDL deficiency and cardiovascular disease

scientific article published on 17 October 2018

Genetic association studies of stroke: hope, signal, and noise.

scientific article published in December 2002

Genetic bases of hypertriglyceridemic phenotypes

scientific article published on August 1, 2011

Genetic determinants of carotid ultrasound traits

scientific article

Genetic determinants of plasma lipoproteins

scientific article published on November 2007

Genetic determinants of plasma triglycerides

scientific article published on November 1, 2010

Genetic determinants of statin intolerance

scientific article

Genetic determinants of the metabolic syndrome

scientific article

Genetic forms of the cardiometabolic syndrome: what can they tell the clinician?

scientific article published on January 2007

Genetic polymorphisms are associated with exposure biomarkers for metals and persistent organic pollutants among Inuit from the Inuvialuit Settlement Region, Canada

scientific article

Genetic risk factors for stroke in the genome-wide association era

scientific article published on January 1, 2011

Genetic susceptibility to heart disease in Canada: lessons from patients with familial hypercholesterolemia

scientific article published on November 2006

Genetic testing for atherosclerosis risk: inevitability or pipe dream?

scientific article

Genetic variation at the NPC1L1 gene locus, plasma lipoproteins, and heart disease risk in the elderly

scientific article

Genetic variation in hyaluronan metabolism loci is associated with plasma plasminogen activator inhibitor-1 concentration

scientific article published on 17 June 2010

Genetic variation of intestinal fatty acid-binding protein associated with variation in body mass in aboriginal Canadians

scientific article

Genetics 100 for Cardiologists: Basics of Genome-Wide Association Studies

scientific article published on November 28, 2012

Genetics 101 for Cardiologists: Rare Genetic Variants and Monogenic Cardiovascular Disease

scientific article published on November 28, 2012

Genetics for the Identification of Lipid Targets Beyond PCSK9.

scientific article published on 11 November 2016

Genetics of Lipid and Lipoprotein Disorders and Traits

scientific article

Genetics of Triglycerides and the Risk of Atherosclerosis

scientific article

Genetics of metabolic syndrome

scientific article published on April 2008

Genetics of metabolic syndrome: is there a role for phenomics?

scientific article published on June 2008

Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).

scientific article published on 6 February 2003

Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase

scientific article

Genomic copy number variation and its potential role in lipoprotein and metabolic phenotypes

scientific article published on April 2007

Genomic organization and evolution of the CX3CR1/CCR8 chemokine receptor locus

scientific article published on 27 January 2003

Getting Real With PCSK9 Inhibitors in Familial Hypercholesterolemia

HDL and atherosclerotic cardiovascular disease: genetic insights into complex biology

scientific article published on 10 August 2017

HDL deficiency due to a new insertion mutation (ApoA-INashua) and review of the literature

scientific article published on November 17, 2012

HDL re-examined

scientific article

HDL—is it too big to fail?

scientific article published on January 15, 2013

HIV-associated dyslipidaemia: pathogenesis and treatment

scientific article published on December 2007

HNF-1alpha G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community

scientific article

HNF1AG319S variant, active cigarette smoking and incident type 2 diabetes in Aboriginal Canadians: a population-based epidemiological study

scientific article published on January 5, 2011

Hepatic lipase deficiency in a Middle-Eastern-Arabic male

scientific article published on November 12, 2010

Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia

scientific article published on 31 January 2008

Heterozygous familial hypercholesterolemia presenting as chylomicronemia syndrome

scientific article

Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease

scientific article

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

scientific article

Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650).

scientific article

Hoofbeats, zebras, and insights into insulin resistance

scientific article

Human cathepsin S gene (CTSS) promoter -25G/A polymorphism

scientific article (publication date: 2000)

Human hepatic lipase mutations and polymorphisms

scientific article published on January 1, 1992

Human smooth muscle cell subpopulations differentially accumulate cholesteryl ester when exposed to native and oxidized lipoproteins

scientific article published on 6 May 2004

Human variant of scavenger receptor BI (R174C) exhibits impaired cholesterol transport functions

scientific article published on 09 February 2021

Hypertension Canada's 2016 Canadian Hypertension Education Program Guidelines for Blood Pressure Measurement, Diagnosis, Assessment of Risk, Prevention, and Treatment of Hypertension

scientific article

Hypertension Canada's 2017 Guidelines for Diagnosis, Risk Assessment, Prevention, and Treatment of Hypertension in Adults

scientific article published on 10 March 2017

Hypertriglyceridemia

scientific article published in March 2013

Hypertriglyceridemia in the genomic era: a new paradigm

scientific article published on 02 January 2015

Hypertriglyceridemia: its etiology, effects and treatment

scientific article

Identification of a dysfunctional missense single nucleotide variant of human adenylyl cyclase VI.

scientific article published in April 2005

Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans

scientific article (publication date: 15 May 2003)

Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy

scientific article published on 16 August 2017

Identification of disulfide-linked apolipoprotein species in human lipoproteins

scientific article

Identification of polymorphisms in the human SHP1 gene

scientific article

Identification of single-nucleotide polymorphisms in the human LPIN1 gene

scientific article

Image in cardiovascular medicine. Aortic xanthomatosis with coronary ostial occlusion in a child homozygous for a nonsense mutation in ABCG8.

scientific article published in February 2003

Imputation of Baseline LDL Cholesterol Concentration in Patients with Familial Hypercholesterolemia on Statins or Ezetimibe

scientific article published on 16 October 2017

Incident Diabetes With Statins: Biology, Artifact, or Both?

scientific article

Increased blood pressure and hyperdynamic cardiovascular responses in carriers of a common hyperfunctional variant of adenylyl cyclase 6.

scientific article published on 23 August 2010

Increased enzyme activity and beta-adrenergic mediated vasodilation in subjects expressing a single-nucleotide variant of human adenylyl cyclase 6

scientific article

Incremental lowering of low-density lipoprotein cholesterol with ezetimibe 20 mg vs 10 mg daily in patients receiving concomitant statin therapy

scientific article

Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation

scientific article published on July 31, 2013

Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families

scientific article

Inherited lipodystrophies and the metabolic syndrome

scientific article published on 11 June 2007

Integrated Measure for Atherogenic Lipoproteins in the Modern Era: Risk Assessment Based on Apolipoprotein B.

scientific article published in January 2016

Intellectual disability associated with a homozygous missense mutation in THOC6

scientific article

Interaction between variant apolipoproteins C-II and E that affects plasma lipoprotein concentrations

scientific article published on September 1991

Is raising HDL a futile strategy for atheroprotection?

scientific article published on February 2008

Is regression of coronary atherosclerosis possible by infusing recombinant apolipoprotein A-I?

scientific article published on March 2004

KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection

scientific article published on 7 November 2016

Kinase mutations in human disease: interpreting genotype-phenotype relationships

scientific article

LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

scientific article published on 3 April 2003

Laminopathies and atherosclerosis

scientific article

Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci.

scientific article

Large-scale deletions of the ABCA1 gene in patients with hypoalphalipoproteinemia

scientific article published on 04 June 2018

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci

scientific article

Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci

scientific article

Learning From Patients With Ultrarare Conditions: Cholesterol Hoof Beats

scientific article published in January 2018

Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia

scientific article published on 24 July 2014

Lipid Management in Diabetes with a Focus on Emerging Therapies

scientific article

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias

scientific article published on 06 February 2014

Lipoprotein lipase (LPL) gene variation and progression of carotid artery plaque

scientific article published on 10 April 2003

Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene

scientific article published on July 1990

Lipoprotein(a): more interesting than ever after 50 years

scientific article published on April 2012

Lomitapide for the treatment of hypercholesterolemia

scientific article published on 9 June 2017

Lomitapide for the treatment of hypertriglyceridemia

scientific article published on 27 October 2016

Long-Term Efficacy and Safety of the Microsomal Triglyceride Transfer Protein Inhibitor Lomitapide in Patients With Homozygous Familial Hypercholesterolemia

scientific article published in July 2017

Long-term effect of soluble-fiber foods on postprandial fat metabolism in dyslipidemic subjects with apo E3 and apo E4 genotypes

scientific article published on September 1, 1997

Loss-of-function mutations in ABCA1 and enhanced β-cell secretory capacity in young adults

scientific article

Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans

scientific article published on 16 March 2009

Low incidence of cardiovascular disease among the Inuit--what is the evidence?

scientific article

Low-density lipoproteins cause atherosclerotic cardiovascular disease. 1. Evidence from genetic, epidemiologic, and clinical studies. A consensus statement from the European Atherosclerosis Society Consensus Panel

scientific article published on 24 April 2017

Low-density lipoproteins cause atherosclerotic cardiovascular disease: pathophysiological, genetic, and therapeutic insights: a consensus statement from the European Atherosclerosis Society Consensus Panel

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MRI of early- and late-stage arterial remodeling in a low-level cholesterol-fed rabbit model of atherosclerosis

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Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies

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Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

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Meta-analysis of the INSIG2 association with obesity including 74,345 individuals: does heterogeneity of estimates relate to study design?

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Metabolic syndrome and its components as predictors of incident type 2 diabetes mellitus in an Aboriginal community

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Metabolic syndrome in aboriginal Canadians: prevalence and genetic associations

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Methylenetetrahydrofolate reductase polymorphism 677C>T is associated with peripheral arterial disease in type 2 diabetes

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Microsomal Triglyceride Transfer Protein Transfers and Determines Plasma Concentrations of Ceramide and Sphingomyelin but Not Glycosylceramide

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Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia

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Microsomal triglyceride transfer protein inhibition-friend or foe?

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Mining the genome for lipid genes

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Mipomersen as a potential adjunctive therapy for hypercholesterolemia

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Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency

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Monogenic Dyslipidemias: Window on Determinants of Plasma Lipoprotein Metabolism

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Monogenic forms of insulin resistance: apertures that expose the common metabolic syndrome

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Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum

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Motor Phenotype in Neurodegenerative Disorders: Gait and Balance Platform Study Design Protocol for the Ontario Neurodegenerative Research Initiative (ONDRI)

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Multi-ethnic genetic association study of carotid intima-media thickness using a targeted cardiovascular SNP microarray

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Multidimensional regulation of lipoprotein lipase: impact on biochemical and cardiovascular phenotypes

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Multiple Symmetric Lipomatosis (Madelung Disease) in a Large Canadian Family With the Mitochondrial c.8344A>G Variant

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Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant

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Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia

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N-of-1 (single-patient) trials for statin-related myalgia

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NPC1L1 haplotype is associated with inter-individual variation in plasma low-density lipoprotein response to ezetimibe

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NPC1L1: evolution from pharmacological target to physiological sterol transporter

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Naringenin prevents dyslipidemia, apolipoprotein B overproduction, and hyperinsulinemia in LDL receptor-null mice with diet-induced insulin resistance

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Narrative review: statin-related myopathy

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New oral agents for treating dyslipidemia

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Niacin: another look at an underutilized lipid-lowering medication

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Non-invasive assessment of atherosclerosis risk

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Noninvasive phenotypes of atherosclerosis: similar windows but different views

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Nonstatin Low-Density Lipoprotein-Lowering Therapy and Cardiovascular Risk Reduction-Statement From ATVB Council

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Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review

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Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

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Novel therapeutics in hypertriglyceridemia

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Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

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Nutraceuticals in 2017: Nutraceuticals in endocrine disorders

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OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia

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Obstructive sleep apnea in 2 women with familial partial lipodystrophy due to a heterozygous LMNA R482Q mutation

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Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses

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Omega-3 fatty acids, polymorphisms and lipid related cardiovascular disease risk factors in the Inuit population

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PCSK9: Regulation and Target for Drug Development for Dyslipidemia

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PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy

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Paraoxonase-2 Gene (PON2) G148 Variant Associated with Elevated Fasting Plasma Glucose in Noninsulin-Dependent Diabetes Mellitus1

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Paraoxonase: biochemistry, genetics and relationship to plasma lipoproteins

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Partial LPL deletions: rare copy-number variants contributing towards severe hypertriglyceridemia

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Pediatric Dyslipidemia-Beyond Familial Hypercholesterolemia

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Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3)

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Pharmacogenetics of Lipid-Lowering Agents: Precision or Indecision Medicine?

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Pharmacogenomics, lipid disorders, and treatment options

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Pharmacological Targeting of the Atherogenic Dyslipidemia Complex: The Next Frontier in CVD Prevention Beyond Lowering LDL Cholesterol

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Phenomics and lamins: from disease to therapy

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Phenomics, lipodystrophy, and the metabolic syndrome

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Phenomics: expanding the role of clinical evaluation in genomic studies

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Phenotypic heterogeneity of sitosterolemia

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Plasma lipoproteins: genetic influences and clinical implications

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Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically

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Polygenic determinants in extremes of high-density lipoprotein cholesterol

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Polygenic determinants of severe hypertriglyceridemia

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Polygenic influences on dyslipidemias

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Polymorphisms in the gene encoding phosphatidylserine-specific phospholipase A1 ( PSPLA1).

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Postprandial lipemia in subjects with the threonine 54 variant of the fatty acid-binding protein 2 gene is dependent on the type of fat ingested

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Predicting abdominal adipose tissue among women with familial partial lipodystrophy

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Prediction of Familial Hypercholesterolemia in Patients at High Atherosclerotic Cardiovascular Disease Risk Using a Recently Validated Algorithm

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Predictive genetic testing for coronary artery disease

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Predictors of mammographic density: insights gained from a novel regression analysis of a twin study

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Prevalence of reproductive abnormalities among women with familial partial lipodystrophy

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Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function

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Promoter polymorphism in PCK1 (phosphoenolpyruvate carboxykinase gene) associated with type 2 diabetes mellitus

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Proprietary Considerations in the Use of Cardiovascular Genetic Data

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Quantitative and qualitative differences in subcutaneous adipose tissue stores across lipodystrophy types shown by magnetic resonance imaging

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Rare APOA5 promoter variants associated with paradoxical HDL cholesterol decrease in response to fenofibric acid therapy

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Recent Advances in the Genetics of Atherothrombotic Disease and Its Determinants

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Recent advances in genetic testing for familial hypercholesterolemia

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Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability

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Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries

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Regulation of macrophage cholesterol efflux through hydroxymethylglutaryl-CoA reductase inhibition: a role for RhoA in ABCA1-mediated cholesterol efflux

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Relationship of the ApoE polymorphism to plasma lipid traits among South Asians, Chinese, and Europeans living in Canada

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Relationship of the metabolic syndrome to carotid ultrasound traits

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Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample

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Role of DNA copy number variation in dyslipidemias

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Roundtable on etiology of familial chylomicronemia syndrome

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Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene

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Secondary causes of chylomicronemia: defining the underside of the iceberg

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Selective up-regulation of LXR-regulated genes ABCA1, ABCG1, and APOE in macrophages through increased endogenous synthesis of 24(S),25-epoxycholesterol

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Semi-automated segmentation and quantification of adipose tissue in calf and thigh by MRI: a preliminary study in patients with monogenic metabolic syndrome

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Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy

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Sequencing: the next generation--what is the role of whole-exome sequencing in the diagnosis of familial cardiovascular diseases?

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Severe Combined Dyslipidemia With a Complex Genetic Basis

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Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene

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Severe Hypertriglyceridemia in Pregnancy

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Severe hypertriglyceridemia with pancreatitis: thirteen years' treatment with lomitapide

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Simple genetics language as source of miscommunication between genetics researchers and potential research participants in informed consent documents

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Simplified Canadian Definition for Familial Hypercholesterolemia

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias

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Sortilin: an unusual suspect in cholesterol metabolism: from GWAS identification to in vivo biochemical analyses, sortilin has been identified as a novel mediator of human lipoprotein metabolism

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Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY).

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Statin Safety in Chinese: A Population-Based Study of Older Adults

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Substance P (NK1)- and neurokinin A (NK2)-receptor gene expression in inflammatory airway diseases

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Successful pregnancy outcome in a patient with severe chylomicronemia due to compound heterozygosity for mutant lipoprotein lipase

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Survival in Academy Award-winning actors and actresses

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TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution

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Targeted next-generation sequencing in monogenic dyslipidemias

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Targeted sequencing reveals expanded genetic diversity of human transfer RNAs

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Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling

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The 2007 Canadian Hypertension Education Program recommendations for the management of hypertension: part 2 - therapy

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The 2008 Canadian Hypertension Education Program recommendations for the management of hypertension: part 2 - therapy

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The 2009 Canadian Hypertension Education Program recommendations for the management of hypertension: Part 2--therapy

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The 2010 Canadian Hypertension Education Program recommendations for the management of hypertension: part 2 - therapy

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The 2011 Canadian Hypertension Education Program Recommendations for the Management of Hypertension: Blood Pressure Measurement, Diagnosis, Assessment of Risk, and Therapy

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The 2012 Canadian hypertension education program recommendations for the management of hypertension: blood pressure measurement, diagnosis, assessment of risk, and therapy

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The 2013 Canadian Hypertension Education Program recommendations for blood pressure measurement, diagnosis, assessment of risk, prevention, and treatment of hypertension

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The 2014 Canadian Hypertension Education Program recommendations for blood pressure measurement, diagnosis, assessment of risk, prevention, and treatment of hypertension

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The 2015 Canadian Hypertension Education Program recommendations for blood pressure measurement, diagnosis, assessment of risk, prevention, and treatment of hypertension

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The Atherogenic Dyslipidemia Complex and Novel Approaches to Cardiovascular Disease Prevention in Diabetes

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The Complex Genetic Basis of Plasma Triglycerides

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The Evolving Future of PCSK9 Inhibitors

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The Genetics of Cardiovascular Disease in Canadian and International Aboriginal Populations

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The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration

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The Ontario Neurodegenerative Disease Research Initiative (ONDRI).

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The Oxysterol 24 (S) ,25‐Epoxycholesterol Attenuates Human Smooth Muscle–Derived Foam Cell Formation Via Reduced Low‐Density Lipoprotein Uptake and Enhanced Cholesterol Efflux

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The apolipoprotein C-III (Gln38Lys) variant associated with human hypertriglyceridemia is a gain-of-function mutation

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The apolipoprotein E gene and the serum low-density lipoprotein cholesterol response to dietary fiber

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The association between hypercholesterolemia and sitosterolemia, and report of a sitosterolemia kindred

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The complex molecular genetics of familial hypercholesterolaemia

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The end of the road for CETP inhibitors after torcetrapib?

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The failure of torcetrapib: what have we learned?

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The fractalkine receptor CX3CR1 is a key mediator of atherogenesis

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The heritability of mammographically dense and nondense breast tissue

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The impact of blunted beta-adrenergic responsiveness on growth regulatory pathways in hypertension

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The impact of diabetes on cardiovascular risk factors and outcomes in a native Canadian population

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The molecular basis of genetic lipodystrophies

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The new dyslipidemia guidelines: what is the debate?

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The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management

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The transcription factor cyclic AMP-responsive element-binding protein H regulates triglyceride metabolism

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Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism

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Thrombin-activatable fibrinolysis inhibitor (TAFI): a novel predictor of angiographic coronary restenosis

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Tools for Enhancement and Quality Improvement of Peer Assessment and Clinical Care in Endocrinology and Metabolism

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Transcriptional Profiling of Endocrine Cerebro-Osteodysplasia Using Microarray and Next-Generation Sequencing

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Transforming Growth Factor-β1 Inhibits Macrophage Cholesteryl Ester Accumulation Induced by Native and Oxidized VLDL Remnants

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Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1

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Translating genomic analyses into improved management of coronary artery disease

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Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease

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Tridimensional ultrastructure of glomerular capillary endothelium revealed by high-resolution scanning electron microscopy

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Triglyceride-rich particles: new actors in valvular aortic stenosis

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Trimethylamine-N-oxide: A Novel Biomarker for the Identification of Inflammatory Bowel Disease

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Triple X syndrome in a patient with partial lipodystrophy discovered using a high-density oligonucleotide microarray: a case report

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Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia

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Usefulness of Gemcabene in Homozygous Familial Hypercholesterolemia (from COBALT-1)

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Using Mendelian randomization to determine causative factors in cardiovascular disease

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Utility of non‐high‐density lipoprotein cholesterol in assessing incident type 2 diabetes risk

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Validation of automatically classified magnetic resonance images for carotid plaque compositional analysis

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Variable association between genetic variation in the CYP7 gene promoter and plasma lipoproteins in three Canadian populations

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Variants at the APOE /C1/C2/C4 Locus Modulate Cholesterol Efflux Capacity Independently of High-Density Lipoprotein Cholesterol

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Venn analysis as part of a bioinformatic approach to prioritize expressed sequence tags from cardiac libraries

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Web of Science’s Citation Median Metrics Overcome the Major Constraints of the Journal Impact Factor

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Western Database of Lipid Variants (WDLV): A Catalogue of Genetic Variants in Monogenic Dyslipidemias

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What role do genes play in abnormal HDL levels?

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Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations

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Whole genome sequencing in the clinic: empowerment or too much information?

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Whole-Gene Duplication of PCSK9 as a Novel Genetic Mechanism for Severe Familial Hypercholesterolemia

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Whole-exome sequencing identifies a novel IHH insertion in an Ontario family with brachydactyly type A1

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Whole-genome sequencing in French Canadians from Quebec

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