Associated Papers
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
Low-Density Lipoprotein Receptor Apolipoprotein B Gene Polymorphism in Kurdish Patients With Severe Hypercholesterolemia.
Sabri S et al.
Cureus, 2024
High Prevalence of Familial Hypercholesterolemia Due to the Founder Effect of the LDLR c.2271del Variant in Communities of Oaxaca, Mexico.
Rodríguez-Gutiérrez PG et al.
Archives of Medical Research, 2024
Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia.
Lv X et al.
Lipids in Health and Disease, 2023
Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION.
Nazarenko MS et al.
International Journal of Molecular Sciences, 2023
Pharmacogenomics of statins: lipid response and other outcomes in Brazilian cohorts.
Dagli-Hernandez C et al.
Pharmacological Reports : Pr, 2022
The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia.
Hu H et al.
Lipids in Health and Disease, 2021
Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania.
Vlad CE et al.
Journal of Clinical Medicine, 2021
Two Novel Disease-Causing Mutations in the LDLR of Familial Hypercholesterolemia.
Hu H et al.
Frontiers in Genetics, 2021
Familial hypercholesterolemia: A single-nucleotide variant (SNV) in mosaic at the low density lipoprotein receptor (LDLR).
Rodríguez-Nóvoa S et al.
Atherosclerosis, 2020
Mutational analysis of the LDLR gene in a cohort of Colombian families with familial hypercholesterolemia.
López G et al.
Atherosclerosis, 2018
Novel compound heterozygous mutations in low density lipoprotein receptor gene causes a severe phenotype in a Chinese hypercholesterolemia family.
Cheng X et al.
Experimental and Therapeutic Medicine, 2018
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
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: Molecular characterization of possible cases from the Azores Islands (Portugal).
Cymbron T et al.
Meta Gene, 2014
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Common and rare single nucleotide polymorphisms in the LDLR gene are present in a black South African population and associate with low-density lipoprotein cholesterol levels.
van Zyl T et al.
Journal of Human Genetics, 2014
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
[The phenotypes of a hypercholesterolemia family with low density lipoprotein receptor exon 13 A606T mutation].
Cheng XY et al.
Zhonghua Nei Ke Za Zhi, 2012
New contributions to the study of common double mutants in the human LDL receptor gene.
Tejedor MT et al.
Die Naturwissenschaften, 2011
Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.
Al-Khateeb A et al.
Bmc Medical Genetics, 2011
Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site.
Kulseth MA et al.
Journal of Human Genetics, 2010
Haplotype analyses, mechanism and evolution of common double mutants in the human LDL receptor gene.
Tejedor MT et al.
Molecular Genetics and Genomics : Mgg, 2010
Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families.
Tamayo ML et al.
Genetic Counseling (geneva, Switzerland), 2008
Familial hypercholesterolemia study in Sardinia using 6 LDLR polymorphic markers based on PCR.
Orrù S et al.
American Journal of Medical Genetics, 2000
Genetic and polygenic contributions to familial hypercholesterolemia in Thailand: Implications for diagnosis and lipid management.
Pasookhush P et al.
Journal of Clinical Lipidology, 0