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
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
Genetic Factors Contributing to the Pathogenesis of Essential Hypertension in Two African Populations.
Kalideen K et al.
Journal of Personalized Medicine, 2024
LDLR gene rearrangements in Czech FH patients likely arise from one mutational event.
Konečná 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
Managing Relevant Clinical Conditions of Hemophilia A/B Patients.
Morfini M et al.
Hematology Reports, 2023
Modulation of factor VIII pharmacokinetics by genetic components in factor VIII receptors.
Lunghi B et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 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
Current Understanding of Inherited Modifiers of FVIII Pharmacokinetic Variation.
Swystun LL et al.
Pharmacogenomics and Personalized Medicine, 2023
The Asialoglycoprotein Receptor Minor Subunit Gene Contributes to Pharmacokinetics of Factor VIII Concentrates in Hemophilia A.
Lunghi B et al.
Thrombosis and Haemostasis, 2022
Pharmacogenomics of statins: lipid response and other outcomes in Brazilian cohorts.
Dagli-Hernandez C et al.
Pharmacological Reports : Pr, 2022
Perspective - The case for zero bleeds and drug bioequivalence in the treatment of congenital hemophilia A in 2021.
Di Minno A et al.
Blood Reviews, 2021
The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia.
Hu H et al.
Lipids in Health and Disease, 2021
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 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
Association of Candidate Gene Polymorphism with Metabolic Syndrome among Mongolian Subjects: A Case-Control Study.
Chuluun-Erdene A et al.
Medical Sciences (basel, Switzerland), 2020
Biological mechanisms underlying inter-individual variation in factor VIII clearance in haemophilia.
Turecek PL et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2020
Genetic determinants of VWF clearance and FVIII binding modify FVIII pharmacokinetics in pediatric hemophilia A patients.
Swystun LL et al.
Blood, 2019
Functional polymorphisms in the LDLR and pharmacokinetics of Factor VIII concentrates.
Lunghi B et al.
Journal of Thrombosis and Haemostasis : Jth, 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
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
The association of lipid metabolism relative gene polymorphisms and ischemic stroke in Han and Uighur population of Xinjiang.
Yue YH et al.
Lipids in Health and Disease, 2017
Elevated Levels of LDL-C are Associated With ApoE4 but Not With the rs688 Polymorphism in the LDLR Gene.
Cahua-Pablo G et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 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
Development and rescue of human familial hypercholesterolaemia in a xenograft mouse model.
Bissig-Choisat B et al.
Nature Communications, 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
Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome.
Ellingson MS et al.
Clinical Genetics, 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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.
Komarova TY et al.
Bmc Medical Genetics, 2013
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
Association of several lipid-related gene polymorphisms and blood pressure variation in the Bai Ku Yao population.
Yin RX et al.
American Journal of Hypertension, 2012
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
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
Polymorphisms at LDLR locus may be associated with coronary artery disease through modulation of coagulation factor VIII activity and independently from lipid profile.
Martinelli N et al.
Blood, 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
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
Association of genetic variation in apolipoprotein E and low density lipoprotein receptor with ischemic stroke in Northern Han Chinese.
Wang B et al.
Journal of the Neurological Sciences, 2009
Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families.
Tamayo ML et al.
Genetic Counseling (geneva, Switzerland), 2008
A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol.
Zhu H et al.
Human Molecular Genetics, 2007
Apolipoprotein E and low-density lipoprotein receptor gene polymorphisms in dyslipidemias-associated essential hypertension.
Niu W et al.
Journal of Human Hypertension, 2007
A common mutation of low-density lipoprotein receptor gene is associated with essential hypertension among Japanese.
Fu Y et al.
Journal of Human Hypertension, 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