Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Next-generation sequencing to confirm clinical familial hypercholesterolemia.

European journal of preventive cardiology - 23 Jul 2021

Reeskamp Laurens F, Tromp Tycho R, Defesche Joep C, Grefhorst Aldo, Stroes Erik S G, Hovingh G Kees, Zuurbier Linda

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia is characterised by high low-density lipoprotein-cholesterol levels and is caused by a pathogenic variant in LDLR, APOB or PCSK9. We investigated which proportion of suspected familial hypercholesterolemia patients was genetically confirmed, and whether this has changed over the past 20 years in The Netherlands. METHODS: Targeted next-generation sequencing of 27 genes...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cholesterol and Lipid Metabolism
Share to Diabetes, Cardiovascular Risks, and Lipoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Hyperlipoproteinemia Type II

Share to Lipoproteins and Cardiovascular Health

Share to Phenotype

Share to Proprotein Convertase 9

Share to Receptors, LDL

Source

Identifiers

PMID: 34298557
DOI: 10.1093/eurjpc/zwaa451

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Next-generation sequencing to confirm clinical familial hypercholesterolemia.PMID 34298557Read ↗

Next-generation sequencing to confirm clinical familial hypercholesterolemiaSemantic proximity Read ↗

Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.Semantic proximity Read ↗

Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next-generation sequencing-based laboratory-developed screening test.Semantic proximity Read ↗

The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 SubjectsSemantic proximity Read ↗

Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.Semantic proximity Read ↗

Beyond the Usual Suspects: Expanding on Mutations and Detection for Familial Hypercholesterolemia.Semantic proximity Read ↗

Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease.Semantic proximity Read ↗

Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype.Semantic proximity Read ↗

Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.Semantic proximity Read ↗

Diagnostic yield of sequencing familial hypercholesterolemia genes in individuals with primary hypercholesterolemia.Semantic proximity Read ↗

Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.Semantic proximity Read ↗

Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.