Associated Papers
Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus.
Katsanis N et al.
Human Genomics, 2025
41287107 (PubMed )
Supplement: 40246_2025_831_MOESM1_ESM.docx
Performance of LDL-C only compared to the Dutch Lipid Clinic Network Score for screening of familial hypercholesterolaemia: the Austrian experience and literature review.
Ferch M et al.
European Journal of Preventive Cardiology, 2025
39535057 (PubMed )
Supplement: zwae331_supplementary_data.docx
Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.
Reijman MD et al.
Current Opinion in Lipidology, 2023
36752612 (PubMed )
Supplement: colip-34-287-s001.xlsx › Suppl_Table_1_-_variants__HeFH_
Genetic Spectrum and Cascade Screening of Familial Hypercholesterolemia in Routine Clinical Setting in Hong Kong.
Yip MK et al.
Genes, 2023
Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia.
Ben-Omran T et al.
Advances in Therapy, 2019
Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.
Chan ML et al.
Molecular Genetics & Genomic Medicine, 2019
The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.
Leigh S et al.
Journal of Medical Genetics, 2017
Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
Sánchez-Hernández RM et al.
Circulation. Cardiovascular Genetics, 2016
27784735 (PubMed )
Supplement: 001545_supplemental_material.pdf
Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.
Etxebarria A et al.
Human Mutation, 2012
Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.
Whittall RA et al.
Annals of Clinical Biochemistry, 2010
Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.
Tosi I et al.
Atherosclerosis, 2007
Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.
Chater R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006
LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy.
Liguori R et al.
Human Mutation, 2001
Clinical and molecular characteristics of homozygous familial hypercholesterolemia patients: Insights from SAFEHEART registry.
Alonso R et al.
Journal of Clinical Lipidology, 0
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