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 clinical spectrum of 94 patients carrying a single mutated MEFV allele.

Rheumatology (Oxford, England) - 1 Jul 2009

Koné-Paut Isabelle, Hentgen Véronique, Guillaume-Czitrom Severine, Compeyrot-Lacassagne Sandrine, Tran Tu-Anh, Touitou Isabelle

Abstract excerpt

OBJECTIVE: To assess the clinical characteristics of patients living in France and carrying a single MEFV mutation. METHOD: A retrospective chart review of patients referred to us for recurrent fevers. Genetic testing: systematic screening of exons 2 and 10 was performed in the MEFV gene. A subset of patients was also investigated for other auto-inflammatory genes. RESULTS: We analysed 94 patients (sex ratio:1)....

Read the complete abstract on PubMed

Topics

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

Share to Amyloidosis
Share to Arabs
Share to Behcet Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Colchicine

Share to Familial Mediterranean Fever

Share to Gout Suppressants

Share to Irritable Bowel Syndrome

Source

Identifiers

PMID: 19465590
DOI: 10.1093/rheumatology/kep121

Genes

MEFV

Variants

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

The clinical spectrum of 94 patients carrying a single mutated MEFV allele.PMID 19465590Read ↗

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 ↗

The spectrum of Familial Mediterranean Fever (FMF) mutations.Semantic proximity Read ↗

Familial Mediterranean fever with a single MEFV mutation: comparison of rare and common mutations in a Turkish paediatric cohort.Semantic proximity Read ↗

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

Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks.Semantic proximity Read ↗

A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever.Semantic proximity Read ↗

The spectrum of Familial Mediterranean Fever gene (MEFV) mutations and genotypes in Iran, and report of a novel missense variant (R204H).Semantic proximity Read ↗

Spectrum of MEFV Variants and Genotypes among Clinically Diagnosed FMF Patients from Southern LebanonSemantic proximity Read ↗

Clinical spectrum of pediatric patients carrying heterozygous MEFV gene variants.Semantic proximity Read ↗

Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia.Semantic proximity Read ↗

Molecular analyses of MEFV gene mutation variants in Turkish population.Semantic proximity Read ↗

The MEFV gene and its association with familial Mediterranean fever, severe atopy, and recurrent respiratory tract infections.Semantic proximity Read ↗

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