Associated Papers
Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.
Souter V et al.
Circulation. Genomic and Precision Medicine, 2024
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
Genetic Spectrum and Cascade Screening of Familial Hypercholesterolemia in Routine Clinical Setting in Hong Kong.
Yip MK et al.
Genes, 2023
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care.
Kamal A et al.
The American Journal of Case Reports, 2023
Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.
Du Z et al.
Iscience, 2022
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature.
Birgmeier J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Management of Familial Hypercholesterolemia in Hong Kong.
Hu M et al.
Journal of Atherosclerosis and Thrombosis, 2016
Genetic analysis of familial hypercholesterolaemia in Western Australia.
Hooper AJ et al.
Atherosclerosis, 2012
Evaluation of high-resolution melting analysis for screening the LDL receptor gene.
Laurie AD et al.
Clinical Biochemistry, 2009
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
Taylor A et al.
Clinical Genetics, 2007
Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective.
Laurie AD et al.
Atherosclerosis. Supplements, 2004
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
Nauck MS et al.
Human Mutation, 2001
Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig.
Bochmann H et al.
Human Mutation, 2001
Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.
Lee WK et al.
Journal of Medical Genetics, 1998