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

Comparison of Pediatric Familial Mediterranean Fever Patients Carrying Only E148Q Variant With the Ones Carrying Homozygous Pathogenic Mutations.

Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases - 1 Aug 2021

Tanatar Ayşe, Karadağ Şerife Gül, Sönmez Hafize Emine, Çakan Mustafa, Ayaz Nuray Aktay

Abstract excerpt

OBJECTIVE: The aims of this study were to compare demographic data, clinical features, and severity scores of familial Mediterranean fever patients carrying E148Q variant with the patients having homozygous pathogenic MEFV mutations and to evaluate both of these groups for the performance of Tel-Hashomer, Livneh, and pediatric diagnostic criteria. METHODS: The demographic and clinical data of patients with...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Familial Mediterranean Fever

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Mutation

Source

Identifiers

PMID: 31972733
DOI: 10.1097/RHU.0000000000001261

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

Comparison of Pediatric Familial Mediterranean Fever Patients Carrying Only E148Q Variant With the Ones Carrying Homozygous Pathogenic Mutations.PMID 31972733Read ↗

The clinical significance of heterozygous E148Q variant in patients with familial Mediterranean fever.Semantic proximity Read ↗

The E148Q Variant Modulates Clinical Phenotype but not Systemic Inflammation in Pediatric Familial Mediterranean FeverSemantic proximity Read ↗

High frequency of E148Q sequence variation in children with familial Mediterranean fever in southeast Turkey.Semantic proximity Read ↗

Clinical features and disease severity of Turkish FMF children carrying E148Q mutationSemantic proximity Read ↗

The analysis of genotype-phenotype correlation in familial Mediterranean fever.Semantic proximity Read ↗

Performance of Tel-Hashomer, Livneh, pediatric and new Eurofever/PRINTO classification criteria for familial Mediterranean fever in a referral center.Semantic proximity Read ↗

Clinical significance of E148Q heterozygous variant in paediatric familial Mediterranean feverSemantic proximity Read ↗

The clinical and genetical features of 124 children with Familial Mediterranean fever: experience of a single tertiary center.Semantic proximity Read ↗

Familial Mediterranean fever patients homozygous for E148Q variant may have milder disease.Semantic proximity Read ↗

The Comparison of Diagnostic Criteria in Children with Familial Mediterranean FeverSemantic proximity Read ↗

Preliminary Evaluation for the Development of a Scoring System to Predict Homozygous M694V Genotype in Familial Mediterranean Fever Patients: A Single-Center Study.Semantic proximity Read ↗

Comparison of Clinical and Genetic Characteristics of Familial Mediterranean Fever Patients Among Adult Age Groups.Semantic proximity Read ↗

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