Associated Papers
Homozygous familial hypercholesterolemia evaluation and survival single center study in Saudi Arabia: The HESSA registry.
Kholaif N et al.
Atherosclerosis, 2025
The Effect of PCSK9 Inhibitors on LDL-C Target Achievement in Patients with Homozygous Familial Hypercholesterolemia: A Retrospective Cohort Analysis.
Alshahrani A et al.
Advances in Therapy, 2024
38169062 (PubMed )
Supplement: 12325_2023_2764_MOESM1_ESM.pdf
Genetic Spectrum and Cascade Screening of Familial Hypercholesterolemia in Routine Clinical Setting in Hong Kong.
Yip MK et al.
Genes, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes
Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia.
Tada H et al.
Frontiers in Genetics, 2022
35480308 (PubMed )
Supplement: Presentation1.pdf
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
Di Taranto MD et al.
Clinical Genetics, 2021
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
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
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1
Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.
Benito-Vicente A et al.
International Journal of Molecular Sciences, 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
Homozygous familial hypercholesterolemia in a high-consanguinity population: Insights from a Saudi cohort.
Alsagheir A et al.
Journal of Clinical Lipidology, 0
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