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

Lipid phenotype and heritage pattern in families with genetic hypercholesterolemia not related to LDLR, APOB, PCSK9, or APOE.

Journal of clinical lipidology - 1 Jan 2000

Jarauta Estíbaliz, Pérez-Ruiz María Rosario, Pérez-Calahorra Sofia, Mateo-Gallego Rocio, Cenarro Ana, Cofán Montserrat, Ros Emilio, Civeira Fernando, Tejedor Maria Teresa

Abstract excerpt

BACKGROUND: A substantial proportion of individuals clinically diagnosed as familial hypercholesterolemia (FH) do not carry pathogenic mutations in candidate genes. Whether in them the high cholesterol trait is transmitted monogenically has not been studied. OBJECTIVES: We assessed the inheritance pattern, penetrance, and expression of high low-density lipoprotein (LDL)-cholesterol (LDLc) in families with genetic...

Read the complete abstract on PubMed

Topics

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

Share to Apolipoprotein A-I
Share to Apolipoproteins B

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to C-Reactive Protein

Share to Cholesterol, LDL

Share to Hyperlipoproteinemia Type II

Share to Lipoprotein(a)

Share to Proprotein Convertase 9

Share to Receptors, LDL

Source

Identifiers

PMID: 27919357
DOI: 10.1016/j.jacl.2016.09.011

Genes

LDLR
APOB
APOE
PCSK9

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

Lipid phenotype and heritage pattern in families with genetic hypercholesterolemia not related to LDLR, APOB, PCSK9, or APOE.PMID 27919357Read ↗

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

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.Semantic proximity Read ↗

Maternally inherited hypercholesterolemia does not modify the cardiovascular phenotype in familial hypercholesterolemia.Semantic proximity Read ↗

The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutationsSemantic proximity Read ↗

The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes.Semantic proximity Read ↗

Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis.Semantic proximity Read ↗

Clinical Aspects of Genetic and Non-Genetic Cardiovascular Risk Factors in Familial HypercholesterolemiaSemantic proximity Read ↗

Detecting familial hypercholesterolemia by serum lipid profile screening in a hospital setting: Clinical, genetic and atherosclerotic burden profile.Semantic proximity Read ↗

Why patients with familial hypercholesterolemia are at high cardiovascular risk? Beyond LDL-C levels.Semantic proximity Read ↗

Familial Hypercholesterolemia: Prevalence and Discrepancy between Genotype and Phenotype. Findings of the Population-based Hamburg City Health Study.Semantic proximity Read ↗

Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review.Semantic proximity Read ↗

Familial hypercholesterolemia: A complex genetic disease with variable phenotypes.Semantic proximity Read ↗

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