ArticleTurkish journal of medical sciences2019
The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia
Article in Turkish journal of medical sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Urological manifestations in familial Mediterranean fever excluding renal amyloidosis: a systematic review.Rheumatology (Oxford, England) · 2026Pooled it
- Familial Mediterranean fever in Azerbaijani children: a nationwide cohort study of genotype-phenotype association.Rheumatology (Oxford, England) · 2026Article
- Clinical and genetic characteristics of adult patients with familial Mediterranean fever at a German tertiary referral centre.BMC rheumatology · 2026Article
- MEFV variant spectrum and exploratory in silico stratification of uncommon variants in 611 individuals tested for suspected familial Mediterranean fever in the Eastern Black Sea region of Türkiye.BMC genomic data · 2026Article
- Relationship between intussusception and familial Mediterranean fever: a molecular genetic study.Pediatric surgery international · 2026Article
- Spectrum of MEFV variants in 8,252 patients from Eastern and Southeastern Anatolia: a large single-center cohort study (2019-2026).Pediatric rheumatology online journal · 2026Review
- The clinical significance of heterozygous E148Q variant in patients with familial Mediterranean fever.Clinical rheumatology · 2026Article
- Growth differentiation factor-15 as a potential biomarker in subclinical inflammation in familial mediterranean fever.Clinical rheumatology · 2026Article
- Relationship Between Clinical Manifestations of Acute Rheumatic Fever and Mutations in the FMF-AssociatedChildren (Basel, Switzerland) · 2026Article
- Clinical features of patients with familial Mediterranean fever over 50 years of age: a single-center experience.Internal and emergency medicine · 2026Observational
- Acute Parotitis due to Familial Mediterranean Fever: A Case Report.Clinical pediatrics · 2025Article
- Molecular analyses of MEFV gene mutation variants in Turkish population.Molecular biology reports · 2024Article
- Evaluating of colchicine use patterns and attack frequency of familial Mediterranean fever patients in the COVID-19 pandemic.International journal of rheumatic diseases · 2023Article
- Renal involvement, presence of amyloidosis, and genotype-phenotype relationship in pediatric patients with Familial Mediterranean fever: a single center study.European journal of pediatrics · 2023Article
- Familial Mediterranean Fever in Spain: Time Trend and Spatial Distribution of the Hospitalizations.International journal of environmental research and public health · 2023Article
- Clinical features, functional status, and quality of life in patients with late-onset familial Mediterranean fever.Northern clinics of Istanbul · 2023Article
- Article
- Real-life data on tapering or discontinuation of canakinumab therapy in patients with familial Mediterranean fever.Rheumatology international · 2022Article
- Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.Functional & integrative genomics · 2022Article
- Evaluation of the controlling nutritional status score and prognostic nutritional index in patients with familial Mediterranean fever.European journal of rheumatology · 2022Article
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28 authors.
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Abstract
Background/aim: The distribution of Mediterranean fever (MEFV) gene mutations in Turkish familial Mediterranean fever (FMF) patients varies according to geographic area of Turkey. There is a need for highly representative data for Turkish FMF patients. The aim of our study was to investigate the distribution of the common MEFV mutations in Turkish FMF patients in a nationwide, multicenter study. Materials and methods: Data of the 2246 FMF patients, from 15 adult rheumatology clinics located in different parts of the country, were evaluated retrospectively. The following mutations have been tested in all patients: M694V, M680I, M694I, V726A, and E148Q. Results: There were 1719 FMF patients with available genetic testing. According to the genotyping, homozygous M694V, present in 413 patients (24%), was the most common mutation . One hundred and fifty-four (9%) of patients had no detectable mutations. Allele frequencies of common mutations were: M694V (n = 1529, 44.5%), M680I (n = 423, 12.3%), V726A (n = 315, 9.2%), E148Q (n = 214, 1%), and M694I (n = 12, <1%). Conclusion: In this large-scale multicenter study, we provided information about the frequencies of common MEFV gene mutations obtained from adult Turkish FMF patients. Nearly half of the patients were carrying at least one M694V mutations in their alleles.
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