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
LDLR gene rearrangements in Czech FH patients likely arise from one mutational event.
Konečná K et al.
Lipids in Health and Disease, 2024
Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.
Abdul Murad NA et al.
Genes, 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
Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.
Wang T et al.
Ebiomedicine, 2022
Mutational analysis of the LDLR gene in a cohort of Colombian families with familial hypercholesterolemia.
López G et al.
Atherosclerosis, 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
Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient.
Al-Allaf FA et al.
Acta Biochimica Polonica, 2017
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
LDLR C1725T Gene Polymorphism Frequency in Type 2 Diabetes Mellitus Patients With Dyslipidemia.
Eroglu Z et al.
Journal of Clinical Medicine Research, 2016
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
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
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
Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.
Whittall RA et al.
Annals of Clinical Biochemistry, 2010
Evaluation of high-resolution melting analysis for screening the LDL receptor gene.
Laurie AD et al.
Clinical Biochemistry, 2009
Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families.
Tamayo ML et al.
Genetic Counseling (geneva, Switzerland), 2008
Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations.
Salazar LA et al.
Human Mutation, 2002
Sequence diversity in genes of lipid metabolism.
Garcia CK et al.
Genome Research, 2001
Rapid detection of polymorphisms in exons 10, 11 and 12 of the low density lipoprotein receptor gene (LDLR) and their use in a clinical genetic diagnostic setting.
Heath KE et al.
Clinical Genetics, 1999
Familial defective apolipoprotein B-100 (R3500Q) in Northern Ireland.
McClean E et al.
British Journal of Biomedical Science, 1999
Clinically applicable mutation screening in familial hypercholesterolemia.
Nissen H et al.
Human Mutation, 1996