- Home
- Publications
- Publication Search
- Publication Details
Title
The complex molecular genetics of familial hypercholesterolaemia
Authors
Keywords
-
Journal
Nature Reviews Cardiology
Volume -, Issue -, Pages -
Publisher
Springer Nature
Online
2018-07-04
DOI
10.1038/s41569-018-0052-6
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Simplified Canadian Definition for Familial Hypercholesterolemia
- (2018) Isabelle Ruel et al. CANADIAN JOURNAL OF CARDIOLOGY
- Familial hypercholesterolemia
- (2018) Martine Paquette et al. CURRENT OPINION IN LIPIDOLOGY
- The role of patient registries for rare genetic lipid disorders
- (2018) David M. Ng et al. CURRENT OPINION IN LIPIDOLOGY
- Role of DNA copy number variation in dyslipidemias
- (2018) Michael A. Iacocca et al. CURRENT OPINION IN LIPIDOLOGY
- Familial hypercholesterolemia
- (2018) Jean-Pierre Rabès et al. CURRENT OPINION IN LIPIDOLOGY
- Polygenic influences on dyslipidemias
- (2018) Jacqueline S. Dron et al. CURRENT OPINION IN LIPIDOLOGY
- ABO blood group is a cardiovascular risk factor in patients with familial hypercholesterolemia
- (2018) Martine Paquette et al. Journal of Clinical Lipidology
- The association between hypercholesterolemia and sitosterolemia, and report of a sitosterolemia kindred
- (2018) Eliot A. Brinton et al. Journal of Clinical Lipidology
- Autosomal Recessive Hypercholesterolemia
- (2018) Laura D’Erasmo et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- 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
- (2017) Brian A. Ference et al. EUROPEAN HEART JOURNAL
- Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals
- (2017) Maya S Safarova et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Recent advances in genetic testing for familial hypercholesterolemia
- (2017) Michael A. Iacocca et al. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis
- (2017) Joana Rita Chora et al. GENETICS IN MEDICINE
- Mutations affecting the transmembrane domain of the LDL receptor: impact of charged residues on the membrane insertion
- (2017) Thea Bismo Strøm et al. HUMAN MOLECULAR GENETICS
- Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing
- (2017) Joshua W. Knowles et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- The Montreal-FH-SCORE: A new score to predict cardiovascular events in familial hypercholesterolemia
- (2017) Martine Paquette et al. Journal of Clinical Lipidology
- Polygenic risk score predicts prevalence of cardiovascular disease in patients with familial hypercholesterolemia
- (2017) Martine Paquette et al. Journal of Clinical Lipidology
- Cardiovascular disease in familial hypercholesterolemia: Validation and refinement of the Montreal-FH-SCORE
- (2017) Martine Paquette et al. Journal of Clinical Lipidology
- The 9p21.3 locus and cardiovascular risk in familial hypercholesterolemia
- (2017) Martine Paquette et al. Journal of Clinical Lipidology
- Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?
- (2017) Joana Rita Chora et al. Journal of Clinical Lipidology
- Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia
- (2017) Joep C. Defesche et al. Journal of Clinical Lipidology
- Use of next-generation sequencing to detectLDLRgene copy number variation in familial hypercholesterolemia
- (2017) Michael A. Iacocca et al. JOURNAL OF LIPID RESEARCH
- Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome
- (2017) Almudena Amor-Salamanca et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis
- (2017) Leo E Akioyamen et al. BMJ Open
- Long-term treatment with evolocumab added to conventional drug therapy, with or without apheresis, in patients with homozygous familial hypercholesterolaemia: an interim subset analysis of the open-label TAUSSIG study
- (2017) Frederick J Raal et al. Lancet Diabetes & Endocrinology
- Familial hypercholesterolaemia
- (2017) Joep C. Defesche et al. Nature Reviews Disease Primers
- Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor)
- (2017) Aurélie Thedrez et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- Universal Cholesterol Screening in Childhood: A Systematic Review
- (2016) Anna Jo Smith et al. Academic Pediatrics
- Diagnosis of Familial Hypercholesterolemia: Table 1
- (2016) Ishwarlal Jialal et al. AMERICAN JOURNAL OF CLINICAL PATHOLOGY
- Coronary Heart Disease, Peripheral Arterial Disease, and Stroke in Familial HypercholesterolaemiaHighlights
- (2016) Leopoldo Pérez de Isla et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained ClinicallyHighlights
- (2016) Jian Wang et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- Phenotype diversity among patients with homozygous familial hypercholesterolemia: A cohort study
- (2016) Frederick J. Raal et al. ATHEROSCLEROSIS
- Knowing the Prevalence of Familial Hypercholesterolemia Matters: Table.
- (2016) Anne C. Goldberg et al. CIRCULATION
- Prevalence of Familial Hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES)CLINICAL PERSPECTIVE
- (2016) Sarah D. de Ferranti et al. CIRCULATION
- Homozygous Familial Hypercholesterolemia in SpainCLINICAL PERSPECTIVE
- (2016) Rosa M. Sánchez-Hernández et al. Circulation-Cardiovascular Genetics
- Mitochondrial health, the epigenome and healthspan
- (2016) M. A. Aon et al. CLINICAL SCIENCE
- A systematic review of current studies in patients with familial hypercholesterolemia by use of national familial hypercholesterolemia registries
- (2016) Liv Mundal et al. CURRENT OPINION IN LIPIDOLOGY
- The multifaceted interplay between lipids and epigenetics
- (2016) Koen F. Dekkers et al. CURRENT OPINION IN LIPIDOLOGY
- Combined hyperlipidemia
- (2016) Amanda J. Brahm et al. CURRENT OPINION IN LIPIDOLOGY
- New developments in proprotein convertase subtilisin–kexin 9ʼs biology and clinical implications
- (2016) Nabil G. Seidah CURRENT OPINION IN LIPIDOLOGY
- LDL–cholesterol transport to the endoplasmic reticulum
- (2016) Simon G. Pfisterer et al. CURRENT OPINION IN LIPIDOLOGY
- Diagnostic scoring for familial hypercholesterolaemia in practice
- (2016) Kate Haralambos et al. CURRENT OPINION IN LIPIDOLOGY
- Lipid Screening in Childhood and Adolescence for Detection of Familial Hypercholesterolemia
- (2016) Paula Lozano et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Children with hypercholesterolemia of unknown cause: Value of genetic risk scores
- (2016) Barbara Sjouke et al. Journal of Clinical Lipidology
- Prevalence of Familial Hypercholesterolemia in Adolescents: Potential Value of Universal Screening?
- (2016) Jing Pang et al. JOURNAL OF PEDIATRICS
- Referral Patterns and Cascade Screening for Familial Hypercholesterolemia in a Pediatric Lipid Clinic
- (2016) Hilary Stempel et al. JOURNAL OF PEDIATRICS
- Attainment of LDL-Cholesterol Treatment Goals in Patients With Familial Hypercholesterolemia
- (2016) Leopoldo Perez de Isla et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia
- (2016) Amit V. Khera et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Child–Parent Familial Hypercholesterolemia Screening in Primary Care
- (2016) David S. Wald et al. NEW ENGLAND JOURNAL OF MEDICINE
- Homozygous Familial Hypercholesterolemia in SpainCLINICAL PERSPECTIVE
- (2016) Rosa M. Sánchez-Hernández et al. Circulation-Cardiovascular Genetics
- Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel
- (2016) Raul D Santos et al. Lancet Diabetes & Endocrinology
- High lipoprotein(a) as a possible cause of clinical familial hypercholesterolaemia: a prospective cohort study
- (2016) Anne Langsted et al. Lancet Diabetes & Endocrinology
- Familial Hypercholesterolemia and the 2013 American College of Cardiology/American Heart Association Guidelines: Myths, Oversimplification, and Misinterpretation Versus Facts
- (2015) Joshua W. Knowles et al. AMERICAN JOURNAL OF CARDIOLOGY
- Therapeutic Potential and Critical Analysis of the PCSK9 Monoclonal Antibodies Evolocumab and Alirocumab
- (2015) C. Michael White ANNALS OF PHARMACOTHERAPY
- Prevalence and management of familial hypercholesterolaemia in coronary patients: An analysis of EUROASPIRE IV, a study of the European Society of Cardiology
- (2015) Guy De Backer et al. ATHEROSCLEROSIS
- The Agenda for Familial Hypercholesterolemia
- (2015) Samuel S. Gidding et al. CIRCULATION
- Characterization of Autosomal Dominant Hypercholesterolemia Caused byPCSK9Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal AntibodyCLINICAL PERSPECTIVE
- (2015) Paul N. Hopkins et al. Circulation-Cardiovascular Genetics
- The life cycle of the low-density lipoprotein receptor
- (2015) Melinde Wijers et al. CURRENT OPINION IN LIPIDOLOGY
- Homozygous autosomal dominant hypercholesterolaemia
- (2015) Barbara Sjouke et al. CURRENT OPINION IN LIPIDOLOGY
- The history of Autosomal Recessive Hypercholesterolemia (ARH). From clinical observations to gene identification
- (2015) Renato Fellin et al. GENE
- The importance of an integrated analysis of clinical, molecular and functional data for the genetic diagnosis of familial hypercholesterolemia
- (2015) Asier Benito-Vicente et al. GENETICS IN MEDICINE
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Prevalence and treatment of familial hypercholesterolaemia in Australian communities
- (2015) Gerald F. Watts et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Characterization of the First PCSK9 Gain of Function Homozygote
- (2015) Ana Catarina Alves et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Universal Screening for Familial Hypercholesterolemia in Children
- (2015) Gašper Klančar et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial
- (2015) Frederick J Raal et al. LANCET
- PCSK9 inhibition with evolocumab (AMG 145) in heterozygous familial hypercholesterolaemia (RUTHERFORD-2): a randomised, double-blind, placebo-controlled trial
- (2015) Frederick J Raal et al. LANCET
- Type of LDLR mutation and the pharmacogenetics of familial hypercholesterolemia treatment
- (2015) Paulo Caleb Junior Lima Santos et al. PHARMACOGENOMICS
- Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction
- (2015) Aenne S. Thormaehlen et al. PLoS Genetics
- Characterization of Autosomal Dominant Hypercholesterolemia Caused byPCSK9Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal AntibodyCLINICAL PERSPECTIVE
- (2015) Paul N. Hopkins et al. Circulation-Cardiovascular Genetics
- PCSK9 R46L, Lower LDL, and Cardiovascular Disease Risk in Familial Hypercholesterolemia
- (2014) Yascara Grisel Luna Saavedra et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia
- (2014) Paulo Caleb Junior Lima Santos et al. ATHEROSCLEROSIS
- Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia
- (2014) Jacques Genest et al. CANADIAN JOURNAL OF CARDIOLOGY
- Mutations in STAP1 Are Associated With Autosomal Dominant Hypercholesterolemia
- (2014) Sigrid W. Fouchier et al. CIRCULATION RESEARCH
- 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
- (2014) M. Futema et al. CLINICAL CHEMISTRY
- Pharmacogenomics, Lipid Disorders, and Treatment Options
- (2014) S E Gryn et al. CLINICAL PHARMACOLOGY & THERAPEUTICS
- 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
- (2014) M. Cuchel et al. EUROPEAN HEART JOURNAL
- Functional Characterization and Classification of Frequent Low-Density Lipoprotein Receptor Variants
- (2014) Aitor Etxebarria et al. HUMAN MUTATION
- Familial hypercholesterolemia in China: Prevalence and evidence of underdetection and undertreatment in a community population
- (2014) Zumin Shi et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Whole exome sequencing of familial hypercholesterolaemia patients negative forLDLR/APOB/PCSK9mutations
- (2014) Marta Futema et al. JOURNAL OF MEDICAL GENETICS
- Normalization of Low-Density Lipoprotein Receptor Expression in Receptor Defective Homozygous Familial Hypercholesterolemia by Inhibition of PCSK9 With Alirocumab
- (2014) Gilles Lambert et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Exome Sequencing: New Insights into Lipoprotein Disorders
- (2014) Sali M. K. Farhan et al. Current Cardiology Reports
- Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry
- (2013) Emily C. O’Brien et al. AMERICAN HEART JOURNAL
- Familial Defective Apolipoprotein B and Familial Hypobetalipoproteinemia in One Family: Two Neutralizing Mutations
- (2013) Anouk van der Graaf et al. ANNALS OF INTERNAL MEDICINE
- Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia
- (2013) Nathan O. Stitziel et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- APOE p.Leu167del mutation in familial hypercholesterolemia
- (2013) Zuhier Awan et al. ATHEROSCLEROSIS
- Clinical and Pharmacogenetic Predictors of Circulating Atorvastatin and Rosuvastatin Concentrations in Routine Clinical Care
- (2013) Marianne K. DeGorter et al. Circulation-Cardiovascular Genetics
- 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
- (2013) B. G. Nordestgaard et al. EUROPEAN HEART JOURNAL
- Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study
- (2013) Philippa J Talmud et al. LANCET
- Discovery and refinement of loci associated with lipid levels
- (2013) Cristen J Willer et al. NATURE GENETICS
- Lipoprotein(a)
- (2012) Joseph B. Dubé et al. CURRENT OPINION IN LIPIDOLOGY
- Effectiveness of alternative strategies to define index case phenotypes to aid genetic diagnosis of familial hypercholesterolaemia
- (2012) Rosemary E J Clarke et al. HEART
- Familial Hypercholesterolemia in the Danish General Population: Prevalence, Coronary Artery Disease, and Cholesterol-Lowering Medication
- (2012) Marianne Benn et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Follow-Up of Children Diagnosed with Familial Hypercholesterolemia in a National Genetic Screening Program
- (2012) Hans J. Avis et al. JOURNAL OF PEDIATRICS
- Clinical Implications of the Molecular Basis of Familial Hypercholesterolemia and Other Inherited Dyslipidemias
- (2011) Peter O. Kwiterovich CIRCULATION
- Functional characterization of splicing and ligand-binding domain variants in the LDL receptor
- (2011) Aitor Etxebarria et al. HUMAN MUTATION
- Genetic variation inAPOB,PCSK9, andANGPTL3in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels
- (2011) Roeland Huijgen et al. HUMAN MUTATION
- The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans
- (2011) Daphna Weissglas-Volkov et al. JOURNAL OF CLINICAL INVESTIGATION
- Pediatric aspects of Familial Hypercholesterolemias: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
- (2011) Stephen R. Daniels et al. Journal of Clinical Lipidology
- Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia
- (2010) J. Rios et al. HUMAN MOLECULAR GENETICS
- Biological, clinical and population relevance of 95 loci for blood lipids
- (2010) Tanya M. Teslovich et al. NATURE
- The LDL Receptor
- (2009) Joseph L. Goldstein et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum ofLDLRmutations and role ofPCSK9as a modifier gene
- (2009) Marianne Abifadel et al. HUMAN MUTATION
- Plasma lipoproteins: genetic influences and clinical implications
- (2009) Robert A. Hegele NATURE REVIEWS GENETICS
- Comparison of Genetic Versus Clinical Diagnosis in Familial Hypercholesterolemia
- (2008) Fernando Civeira et al. AMERICAN JOURNAL OF CARDIOLOGY
- A treasure trove for lipoprotein biology
- (2008) Aldons J Lusis et al. NATURE GENETICS
- Familial hypercholesterolaemia in Portugal
- (2007) M. Bourbon et al. ATHEROSCLEROSIS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExplorePublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More