Genetic testing in familial hypercholesterolemia: is it for everyone?

AM Medeiros, M Bourbon - Current Atherosclerosis Reports, 2023 - Springer
Abstract Purpose of Review Lipid measurements and genetic testing are the main diagnostic
tools for FH screening that are available in many countries. A lipid profile is widely …

Gene and cell therapy approaches for familial hypercholesterolemia: An update

N Parsamanesh, O Kooshkaki, H Siami, RD Santos… - Drug discovery today, 2023 - Elsevier
Highlights•FH is a common inherited autosomal codominant disorder.•Homozygous FH
patients usually have a poor response to traditional lipid-lowering therapy.•We reviewed the …

Yield of familial hypercholesterolemia genetic and phenotypic diagnoses after electronic health record and genomic data screening

SS Gidding, HL Kirchner, A Brangan… - Journal of the …, 2023 - Am Heart Assoc
Background Data mining of electronic health records to identify patients suspected of familial
hypercholesterolemia (FH) has been limited by absence of both phenotypic and genomic …

Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype

AM Medeiros, AC Alves, B Miranda, JR Chora… - Journal of Lipid …, 2024 - ASBMB
Familial hypercholesterolemia (FH) is a common genetic disorder of lipid metabolism
caused by pathogenic/likely pathogenic variants in LDLR, APOB, and PCSK9 genes …

High-Throughput Microscopy Characterization of Rare LDLR Variants

R Graça, M Zimon, AC Alves, R Pepperkok… - Basic to Translational …, 2023 - jacc.org
Familial hypercholesterolemia (FH) is the most common inherited life-threatening disorder of
lipid metabolism. Early diagnosis and treatment are the key to reduce the cumulative life …

Genetic spectrum of familial hypercholesterolaemia in the malaysian community: Identification of pathogenic gene variants using targeted next-generation sequencing

AZ Razman, YA Chua, NA Mohd Kasim… - International Journal of …, 2022 - mdpi.com
Familial hypercholesterolaemia (FH) is caused by mutations in lipid metabolism genes,
predominantly in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB) …

Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study

MN Huang, CC Wang, MS Ma, MZ Chi, Q Zhou… - Lipids in Health and …, 2024 - Springer
Background Familial hypercholesterolemia (FH) is an inherited disorder mainly marked by
increased low-density lipoprotein cholesterol (LDL-C) concentrations and a heightened risk …

Novel Tools for Comprehensive Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants

J Jasiecki, M Targońska, A Janaszak-Jasiecka… - International Journal of …, 2023 - mdpi.com
Familial hypercholesterolemia (FH) is an autosomal-dominant disorder caused mainly by
substitutions in the low-density lipoprotein receptor (LDLR) gene, leading to an increased …

Clinical impact of genetic testing for lipid disorders

E Muzurović, S Borozan, M Rizzo - Current Opinion in Cardiology, 2024 - journals.lww.com
Clinical impact of genetic testing for lipid disorders : Current Opinion in Cardiology Clinical
impact of genetic testing for lipid disorders : Current Opinion in Cardiology Log in or …

Tek merkez deneyimiyle ailesel hiperkolesterolemi ile ilişkili genlerin “Yeni kuşak DNA dizi analizi (Next Generation Sequencing-NGS)” yöntemi ile incelenmesi

D Özkay - 2023 - search.proquest.com
Ailesel Hiperkolesterolemi (AH), kolesterol yüksekliği ile seyreden ve erken yaş
aterosklerotik kardiyovasküler hastalıkların (ASKVH) önlenebilir nedeni olan genetik bir …