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

Cascade screening for familial hypercholesterolaemia: implications of a pilot study for national screening programmes.

Journal of medical screening - 1 Jan 2006

Marks D, Thorogood M, Neil S M, Humphries S E, Neil H A W

Abstract excerpt

OBJECTIVES: To determine what proportion of cases of heterozygous familial hypercholesterolaemia would be identified by cascade screening conducted by a specialist hospital clinic, and by how much this would increase the prevalence of diagnosed cases. SETTING: Hospital clinic serving a population...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Genetic Predisposition to Disease
Share to Hyperlipoproteinemia Type II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mass Screening

Share to Pilot Projects

Share to Prevalence

Source

Identifiers

PMID: 17007658
DOI: 10.1258/096914106778440617

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17007658-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cascade screening for familial hypercholesterolaemia: implications of a pilot study for national screening programmes.PMID 17007658Read ↗

Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemiaSemantic proximity Read ↗

The genetics and screening of familial hypercholesterolaemiaSemantic proximity Read ↗

Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies.Semantic proximity Read ↗

Reaching detection targets in familial hypercholesterolaemia: Comparison of identification strategies.Semantic proximity Read ↗

Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testingSemantic proximity Read ↗

Cascade screening amplifies familial hypercholesterolaemia detection after clinically guided next- generation sequencingSemantic proximity Read ↗

Effectiveness of genetic cascade screening for familial hypercholesterolaemia using a centrally co-ordinated clinical service: an Australian experience.Semantic proximity Read ↗

Preventing cardiovascular disease: a review of the effectiveness of identifying the people with familial hypercholesterolaemia in New Zealand.Semantic proximity Read ↗

Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.Semantic proximity Read ↗

Cost-utility analysis of searching electronic health records and cascade testing to identify and diagnose familial hypercholesterolaemia in England and Wales.Semantic proximity Read ↗

Diagnosis of familial hypercholesterolemia in general practice using clinical diagnostic criteria or genetic testing as part of cascade genetic screening.Semantic proximity Read ↗

Improving Familial Hypercholesterolemia Detection Through Implementation of Nurse-led Cascade ScreeningSemantic proximity Read ↗

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