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

The risk of familial Mediterranean fever in MEFV heterozygotes: a statistical approach.

PloS one - 1 Jan 2013

Jéru Isabelle, Hentgen Véronique, Cochet Emmanuelle, Duquesnoy Philippe, Le Borgne Gaëlle, Grimprel Emmanuel, Stojanovic Katia Stankovic, Karabina Sonia, Grateau Gilles, Amselem Serge

Abstract excerpt

BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder due to MEFV mutations and one of the most frequent Mediterranean genetic diseases. The observation of many heterozygous patients in whom a second mutated allele was excluded led to the proposal that heterozygosity could be causal. However, heterozygosity might be coincidental in many patients due to the very high...

Read the complete abstract on PubMed

Topics

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

Share to Cytoskeletal Proteins
Share to Ethnicity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Familial Mediterranean Fever

Share to Heterozygote

Share to Prevalence

Share to Siblings

Source

Open in PubMed Open full text

Identifiers

PMID: 23844200
DOI: 10.1371/journal.pone.0068431
PMCID: PMC3700951

Genes

MEFV

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The risk of familial Mediterranean fever in MEFV heterozygotes: a statistical approach.PMID 23844200Read ↗

Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations.Semantic proximity Read ↗

Compound heterozygosity for three common MEFV mutations in a highly consanguineous family with familial Mediterranean fever.Semantic proximity Read ↗

Typical Familial Mediterranean Fever associated with the heterozygous missense sequence p.T577N variant of the MEFV gene: Report on two Northern European Caucasians relatives in France.Semantic proximity Read ↗

Clinical disease among patients heterozygous for familial Mediterranean fever.Semantic proximity Read ↗

Familial Mediterranean fever in heterozygotes: are we able to accurately diagnose the disease in very young children?Semantic proximity Read ↗

Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic.Semantic proximity Read ↗

Estimating the allele frequency of autosomal recessive disorders through mutational records and consanguinity: the Homozygosity Index (HI).Semantic proximity Read ↗

The significance of carrying MEFV variants in symptomatic and asymptomatic individuals.Semantic proximity Read ↗

Phenotypic characterization of Familial Mediterranean Fever patients harboring variants of uncertain significanceSemantic proximity Read ↗

Frequency of alterations in the MEFV gene and clinical signs in familial Mediterranean fever in Central Anatolia, Turkey.Semantic proximity Read ↗

Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.Semantic proximity Read ↗

Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients.Semantic proximity Read ↗

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