Associated Papers
Non-canonical manifestations of FMF in homozygous M694V MEFV genotype: Insights from a large patient cohort.
Giat E et al.
Seminars in Arthritis and Rheumatism, 2025
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
Elderly-onset Familial Mediterranean Fever Carrying MEFV Exon 10 Variants in a Japanese Patient.
Fujita Y et al.
Internal Medicine (tokyo, Japan), 2025
Familial Mediterranean Fever; Recent Advances, Future Prospectives.
Romano M et al.
Diagnostics (basel, Switzerland), 2025
New Diseases Linked to MEFV Variants or Pyrinopathies.
Mertz P et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2025
The effect of gene dosage and age at the disease onset on the severity of familial Mediterranean fever.
Polat MC et al.
Postgraduate Medicine, 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
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 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
Implementation of long-read sequencing for routine molecular diagnosis of familial mediterranean fever.
Vanhoye X et al.
Practical Laboratory Medicine, 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
Comparison of Clinical and Genetic Characteristics of Familial Mediterranean Fever Patients Among Adult Age Groups.
Fidan S et al.
The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology, 2024
Disease severity and genotype-phenotype correlation in adult patients with familial Mediterranean fever.
Tuncer Kuru F et al.
Modern Rheumatology, 2023
Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome.
Kışla Ekinci RM et al.
Archives of Rheumatology, 2023
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.
Chelleri C et al.
Human Mutation, 2023
Steroid hormone catabolites activate the pyrin inflammasome through a non-canonical mechanism.
Magnotti F et al.
Cell Reports, 2022
Late-onset familial mediterranean fever: single-center experience and literature review.
Aydin O et al.
Internal and Emergency Medicine, 2022
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Dundar M et al.
Functional & Integrative Genomics, 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
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.
Jain A et al.
Journal, Genetic Engineering & Biotechnology, 2021
Comparison of Pediatric Familial Mediterranean Fever Patients Carrying Only E148Q Variant With the Ones Carrying Homozygous Pathogenic Mutations.
Tanatar A et al.
Journal of Clinical Rheumatology : Practical Reports on Rheumatic & Musculoskeletal Diseases, 2021
Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.
Honda Y et al.
Journal of Clinical Immunology, 2021
Comorbidities and phenotype-genotype correlation in children with familial Mediterranean fever.
Ayaz NA et al.
Rheumatology International, 2021
Inflammasomes in the pathophysiology of autoinflammatory syndromes.
Tartey S et al.
Journal of Leukocyte Biology, 2020
A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever.
Balta B et al.
Molecular Biology Reports, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Association of pyrin mutations and autoinflammation with complex phenotype hidradenitis suppurativa: a case-control study.
Vural S et al.
The British Journal of Dermatology, 2019
The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia
Yaşar Bilge Ş et al.
Turkish Journal of Medical Sciences, 2019
Familial Mediterranean Fever.
Ozdogan H et al.
Presse Medicale (paris, France : 1983), 2019
Familial Mediterranean fever in Jordanian Children: single centre experience.
Alzyoud R et al.
Mediterranean Journal of Rheumatology, 2018
Familial Mediterranean fever patients homozygous for E148Q variant may have milder disease.
Topaloglu R et al.
International Journal of Rheumatic Diseases, 2018
Familial Mediterranean fever: overview of pathogenesis, clinical features and management.
Migita K et al.
Immunological Medicine, 2018
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
Comparison of early versus late onset familial Mediterranean fever.
Yasar Bilge NS et al.
International Journal of Rheumatic Diseases, 2018
Update on the epidemiology and disease outcome of Familial Mediterranean fever.
Özen S
Best Practice & Research. Clinical Rheumatology, 2018
Function and mechanism of the pyrin inflammasome.
Heilig R et al.
European Journal of Immunology, 2018
Efficacy of anakinra in a patient with systemic amyloidosis presenting as amyloidoma.
Nalcacioglu H et al.
International Journal of Rheumatic Diseases, 2018
Does thiol-disulphide balance show oxidative stress in different MEFV mutations?
Balta B et al.
Rheumatology International, 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
A clinical update on inflammasomopathies.
Sönmez HE et al.
International Immunology, 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 diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy.
Vitale A et al.
Internal and Emergency Medicine, 2017
Familial Mediterranean fever, review of the literature.
Alghamdi M
Clinical Rheumatology, 2017
Autoinflammatory Diseases with Periodic Fevers.
Sag E et al.
Current Rheumatology Reports, 2017
The NLRP3 and Pyrin Inflammasomes: Implications in the Pathophysiology of Autoinflammatory Diseases.
de Torre-Minguela C et al.
Frontiers in Immunology, 2017
Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management.
Özen S et al.
Frontiers in Immunology, 2017