Associated Papers
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
Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor.
Pussadhamma B et al.
Scientific Reports, 2024
LDLR c.415G > A causes familial hypercholesterolemia by weakening LDLR binding to LDL.
Wang K et al.
Lipids in Health and Disease, 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
High-Throughput Microscopy Characterization of Rare LDLR Variants.
Graça R et al.
Jacc. Basic to Translational Science, 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
Differential distribution of gene polymorphisms associated with hypercholesterolemia, hypertriglyceridemia, and hypoalphalipoproteinemia among Native American and Mestizo Mexicans.
Torres-Valadez R et al.
World Journal of Hepatology, 2022
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
Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen.
Awan ZA et al.
Frontiers in Medicine, 2021
Two Novel Disease-Causing Mutations in the LDLR of Familial Hypercholesterolemia.
Hu H et al.
Frontiers in Genetics, 2021
Recently reported familial hypercholesterolemia-related mutations from cases in the Middle East and North Africa region.
Awan ZA et al.
Current Opinion in Lipidology, 2019
Genetic polymorphisms and variants in the LDL receptor associated with familial hypercholesterolemia: cascade screening and identification of the variants 666C>A, 862G>A, 901G>A, and 919G>A of a Brazilian family.
Pamplona-Cunha H et al.
Clinical Chemistry and Laboratory Medicine, 2018
Mutational analysis of the LDLR gene in a cohort of Colombian families with familial hypercholesterolemia.
López G et al.
Atherosclerosis, 2018
Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report.
Paththinige CS et al.
Lipids in Health and Disease, 2018
In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population.
Morad FA et al.
Journal of Computational Biology : a Journal of Computational Molecular Cell Biology, 2018
The Spectrum of Familial Hypercholesterolemia (FH) in Saudi Arabia: Prime Time for Patient FH Registry.
Alallaf F et al.
The Open Cardiovascular Medicine Journal, 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
Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia.
Al-Allaf FA et al.
Human Genome Variation, 2014
Correlation of SPECT imaging, biochemical parameters and mutation with systolic dysfunction.
Alenizi D et al.
Genetics and Molecular Research : Gmr, 2013
Mutation detection in Croatian patients with familial hypercholesterolemia.
Pećin I et al.
Annals of Human Genetics, 2013
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families.
Tamayo ML et al.
Genetic Counseling (geneva, Switzerland), 2008