Associated Papers
Genetic, and clinical features in Italian and lebanese subjects with familial mediterranean fever (FMF).
Jaber N et al.
European Journal of Internal Medicine, 2026
R202Q homozygosity of Mediterranean fever gene is associated with atypical clinical phenotype of familial Mediterranean fever.
Sagris D et al.
European Journal of Internal Medicine, 2025
The enigma of familial Mediterranean fever: phenotypic characterization of patients harbouring variants of uncertain significance.
Ulu K et al.
Rheumatology (oxford, England), 2025
Association of Inflammasome Gene Expression Levels with Pathogenesis of Familial Mediterranean Fever in Armenians.
Hayrapetyan V et al.
International Journal of Molecular Sciences, 2024
Inflammatory biomarker analysis confirms reduced disease severity in heterozygous patients with familial Mediterranean fever.
Elhani I et al.
Rmd Open, 2024
Cost-saving approach with screening of selected variants in genetic diagnosis in Turkish pediatric familial Mediterranean fever patients: a single center longitudinal study.
Sözeri B et al.
The Turkish Journal of Pediatrics, 2024
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
Molecular analyses of MEFV gene mutation variants in Turkish population.
Aksoy R et al.
Molecular Biology Reports, 2024
Generation of iPSCs from a Patient with the M694V Mutation in the MEFV Gene Associated with Familial Mediterranean Fever and Their Differentiation into Macrophages.
Grigor'eva EV et al.
International Journal of Molecular Sciences, 2024
An Update on Familial Mediterranean Fever.
Lancieri M et al.
International Journal of Molecular Sciences, 2023
Plasminogen gene polymorphisms [c.924C>T and IVS 8+14 G>A] in periodontitis and familial Mediterranean fever: A case-control study.
Fentoğlu Ö et al.
Journal of Periodontal Research, 2022
Sequence analysis in Familial Mediterranean Fever patients with no confirmatory genotype.
Sgouropoulou V et al.
Rheumatology International, 2022
The clinical effect of gene mutations in familial Mediterranean fever disease.
Güngörer V et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2022
Genotyping of familial Mediterranean fever gene (MEFV)-Single nucleotide polymorphism-Comparison of Nanopore with conventional Sanger sequencing.
Schmidt J et al.
Plos One, 2022
Correlation genotype-phenotype: MEFV gene mutations and Moroccan patients with rheumatoid arthritis.
Missoum H et al.
The Pan African Medical Journal, 2022
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.
Jain A et al.
Journal, Genetic Engineering & Biotechnology, 2021
Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings.
Arpacı A et al.
Molecular Biology Reports, 2021
Spectrum of MEFV Variants and Genotypes among Clinically Diagnosed FMF Patients from Southern Lebanon.
El Roz A et al.
Medical Sciences (basel, Switzerland), 2020
Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever.
Van Gorp H et al.
Annals of the Rheumatic Diseases, 2020
A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever.
Balta B et al.
Molecular Biology Reports, 2020
Single-Center Overview of Pediatric Monogenic Autoinflammatory Diseases in the Past Decade: A Summary and Beyond.
Wang W et al.
Frontiers in Immunology, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
Semen analysis in adolescents with familial Mediterranean fever.
Kaya Aksoy G et al.
Journal of Pediatric Urology, 2019
Mediterranean fever gene variants and colchicine therapy in periodic fever, aphthous stomatitis pharyngitis, adenitis syndrome in a Mediterranean region.
Haytoglu Z et al.
Expert Review of Clinical Immunology, 2019
Evaluation of the effects of miRNAs in familial Mediterranean fever.
Hortu HO et al.
Clinical Rheumatology, 2019
Familial Mediterranean Fever in Chinese Children: A Case Series.
Li J et al.
Frontiers in Pediatrics, 2019
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Gaggiano C et al.
Mediators of Inflammation, 2019
The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T).
Gumus E
Journal of Clinical Medicine, 2018
TNFRSF1A and MEFV mutations in childhood onset multiple sclerosis.
Blaschek A et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
Familial Mediterranean fever gene mutations as a risk factor for early coronary artery disease.
Basar N et al.
International Journal of Rheumatic Diseases, 2017
R202Q/M694V as novel MEFV gene mutations in chronic periodontitis and familial Mediterranean fever.
Fentoğlu Ö et al.
Journal of Periodontal Research, 2017
The spectrum of Familial Mediterranean Fever gene (MEFV) mutations and genotypes in Iran, and report of a novel missense variant (R204H).
Ebadi N et al.
European Journal of Medical Genetics, 2017
Comprehensive analysis of mutations in the MEFV gene reveal that the location and not the substitution type determines symptom severity in FMF.
Moradian MM et al.
Molecular Genetics & Genomic Medicine, 2017
The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (Kahramanmaraş) of Turkey.
Kilinc M et al.
Rheumatology International, 2016
Global epidemiology of Familial Mediterranean fever mutations using population exome sequences.
Fujikura K
Molecular Genetics & Genomic Medicine, 2015
Overlap of familial Mediterranean fever and hyper-IgD syndrome in an Arabic kindred.
Moussa T et al.
Journal of Clinical Immunology, 2015
Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V).
Gunesacar R et al.
Gene, 2014
Increased NLRP3-dependent interleukin 1β secretion in patients with familial Mediterranean fever: correlation with MEFV genotype.
Omenetti A et al.
Annals of the Rheumatic Diseases, 2014
Novel therapeutics for the treatment of familial Mediterranean fever: from colchicine to biologics.
Grattagliano I et al.
Clinical Pharmacology and Therapeutics, 2014
Clinical and genetic profile of children with periodic fever syndromes from a single medical center in South East Michigan.
Chandrakasan S et al.
Journal of Clinical Immunology, 2014
Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey.
Oztuzcu S et al.
Molecular Biology Reports, 2014
Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature.
Touitou I
Journal of Medical Genetics, 2013
Familial Mediterranean fever in Germany: epidemiological, clinical, and genetic characteristics of a pediatric population.
Lainka E et al.
European Journal of Pediatrics, 2012
Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk factor for multiple sclerosis.
Kümpfel T et al.
Multiple Sclerosis (houndmills, Basingstoke, England), 2012
Frequency of alterations in the MEFV gene and clinical signs in familial Mediterranean fever in Central Anatolia, Turkey.
Ceylan GG et al.
Genetics and Molecular Research : Gmr, 2012
Mediterranean fever (MEFV) gene mutation frequency is not increased in adults with rheumatic heart disease.
Simsek I et al.
Clinical Rheumatology, 2011
Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis.
Blaschek A et al.
Multiple Sclerosis (houndmills, Basingstoke, England), 2010
Neutrophil-derived S100A12 as novel biomarker of inflammation in familial Mediterranean fever.
Kallinich T et al.
Annals of the Rheumatic Diseases, 2010