Associated Papers
Diagnostic and Therapeutic Challenges of Homozygous and Severe Heterozygous Familial Hypercholesterolemia from Clinical Aspect-A Single-Center Study.
Nádró B et al.
Journal of Clinical Medicine, 2025
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia.
Reeskamp LF et al.
Circulation. Genomic and Precision Medicine, 2018
The study of familial hypercholesterolemia in Italy: A narrative review.
Bertolini S et al.
Atherosclerosis. Supplements, 2017
Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family.
Nikkola E et al.
Atherosclerosis, 2017
The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.
Leigh S et al.
Journal of Medical Genetics, 2017
Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.
Safarova MS et al.
European Journal of Human Genetics : Ejhg, 2017
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
Sharifi M et al.
Metabolism: Clinical and Experimental, 2016
The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia.
Benito-Vicente A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
The UK10K project identifies rare variants in health and disease.
Walter K et al.
Nature, 2015
A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.
Gretarsdottir S et al.
Plos Genetics, 2015
Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.
Mollaki V et al.
Atherosclerosis, 2014
Noninvasive assessment of endothelial function and vascular parameters in patients with familial and nonfamilial hypercholesterolemia.
Lewandowski P et al.
Polskie Archiwum Medycyny Wewnetrznej, 2014
Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia.
Jelassi A et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.
Etxebarria A et al.
Human Mutation, 2012
New contributions to the study of common double mutants in the human LDL receptor gene.
Tejedor MT et al.
Die Naturwissenschaften, 2011
Molecular characterization of Iranian patients with possible familial hypercholesterolemia.
Farrokhi E et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2011
Altered mRNA splicing in lipoprotein disorders.
Calandra S et al.
Current Opinion in Lipidology, 2011
Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.
Whittall RA et al.
Annals of Clinical Biochemistry, 2010
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
Chmara M et al.
Journal of Applied Genetics, 2010
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.
Guardamagna O et al.
The Journal of Pediatrics, 2009
An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia.
Rabacchi C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009
Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses.
Holla ØL et al.
Molecular Genetics and Metabolism, 2009
What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?
Humphries SE et al.
Current Opinion in Lipidology, 2008
A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family.
Jelassi A et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.
Widhalm K et al.
Journal of Inherited Metabolic Disease, 2007
Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations?
Blesa S et al.
Clinical Chemistry, 2006
Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.
Humphries SE et al.
Journal of Molecular Medicine (berlin, Germany), 2006
Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.
Brusgaard K et al.
Clinical Genetics, 2006
Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia.
Muller PY et al.
Atherosclerosis. Supplements, 2004
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
Mozas P et al.
Human Mutation, 2004
FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations.
Dedoussis GV et al.
European Journal of Clinical Investigation, 2004
Molecular characterization of familial hypercholesterolemia in German and Greek patients.
Dedoussis GV et al.
Human Mutation, 2004
The intron 14 2140+5G>A variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels.
Whittall RA et al.
Journal of Medical Genetics, 2002
Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.
García-García AB et al.
Human Mutation, 2001
A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.
Heath KE et al.
European Journal of Human Genetics : Ejhg, 2001
The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia.
Heath KE et al.
Atherosclerosis, 1999
Genetic causes of monogenic familial hypercholesterolemia in the Greek population: Lessons, mistakes, and the way forward.
Mollaki V et al.
Journal of Clinical Lipidology, 0