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

Sequence analysis in Familial Mediterranean Fever patients with no confirmatory genotype.

Rheumatology international - 1 Jan 2022

Sgouropoulou Vasiliki, Farmaki Evangelia, Papadopoulos Theophanis, Tzimouli Vasiliki, Pratsidou-Gertsi Jenny, Trachana Maria

Abstract excerpt

INTRODUCTION/OBJECTIVES: Familial Mediterranean Fever (FMF) is a genetic disorder of the innate immunity characterized by chronic inflammatory state. The diagnosis is mainly based on clinical criteria and supported by genotyping, especially in atypical phenotypes. The primary objective was to depict the Familial Mediterranean Fever (FMF) genotype of Greek patients and investigate the contribution of Next...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child
Share to Familial Mediterranean Fever

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genotype

Share to High-Throughput Nucleotide Sequencing

Share to Mutation

Share to Polymerase Chain Reaction

Share to Young Adult

Source

Identifiers

PMID: 34120219
DOI: 10.1007/s00296-021-04913-4

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

Sequence analysis in Familial Mediterranean Fever patients with no confirmatory genotype.PMID 34120219Read ↗

MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever.Semantic proximity Read ↗

Next-generation sequencing reveals genetic heterogeneity in MEFV-negative or heterozygous familial Mediterranean fever: a retrospective study.Semantic proximity Read ↗

MEFV gene allele frequency and genotype distribution in 3230 patients' analyses by next generation sequencing methods.Semantic proximity Read ↗

Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy.Semantic proximity Read ↗

Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a "heterozygote advantage" in Turkey?Semantic proximity Read ↗

Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients.Semantic proximity Read ↗

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

Reverse hybridization vs. DNA sequencing in the molecular diagnosis of 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 ↗

The enigma of familial Mediterranean fever: phenotypic characterization of patients harbouring variants of uncertain significance.Semantic proximity Read ↗

Periodic fevers in adult Greeks: clinical and molecular presentation.Semantic proximity Read ↗

Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease.Semantic proximity Read ↗

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