Associated Papers
Unexpectedly high prevalence of familial Mediterranean fever in Slovakia.
Jesenak M et al.
Clinical and Experimental Medicine, 2025
New Diseases Linked to MEFV Variants or Pyrinopathies.
Mertz P et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2025
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
The significance of carrying MEFV variants in symptomatic and asymptomatic individuals.
Ben-Chetrit E et al.
Clinical Genetics, 2024
Genetic Approaches to Study Rheumatic Diseases and Its Implications in Clinical Practice.
Rowczenio D et al.
Arthritis & Rheumatology (hoboken, N.j.), 2024
Heterozygous Pyrin (MEFV) E148Q allele carriers indicate a reduced glaucoma risk for Turkish population: a prospective clinical analysis.
Muhsinoglu O et al.
Ophthalmic Genetics, 2024
Old paradigms and new concepts in familial Mediterranean fever (FMF): an update 2023.
Ben-Chetrit E
Rheumatology (oxford, England), 2024
Experimental models in Familial Mediterranean Fever (FMF): Insights into pathophysiology and therapeutic strategies.
Mezher N et al.
Experimental and Molecular Pathology, 2024
An Update on Familial Mediterranean Fever.
Lancieri M et al.
International Journal of Molecular Sciences, 2023
Mutations in the B30.2 and the central helical scaffold domains of pyrin differentially affect inflammasome activation.
Chirita D et al.
Cell Death & Disease, 2023
Neurological Face of Familial Mediterranean Fever.
Bektaş PC et al.
Turkish Archives of Pediatrics, 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
Familial Mediterranean Fever: How to Interpret Genetic Results? How to Treat? A Quarter of a Century After the Association with the Mefv Gene.
Batu ED et al.
Current Rheumatology Reports, 2022
Is neutrophilic dermatosis a manifestation of familial Mediterranean fever?
Delplanque M et al.
Scandinavian Journal of Rheumatology, 2022
Familial Mediterranean Fever After Cord Blood Transplantation for Familial Hemophagocytic Lymphohistiocytosis.
Igarashi K et al.
Journal of Pediatric Hematology/oncology, 2021
Phenotypic characterization of Familial Mediterranean Fever patients harboring variants of uncertain significance
Sarı A et al.
Turkish Journal of Medical Sciences, 2021
Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.
Honda Y et al.
Journal of Clinical Immunology, 2021
Prevalence of Familial Mediterranean Fever in Children with Cryptogenic Cirrhosis.
Varol Fİ et al.
Journal of Tropical Pediatrics, 2021
Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2021
Neuroinflammation Associated With Inborn Errors of Immunity.
Lindahl H et al.
Frontiers in Immunology, 2021
Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review
Tufan A et al.
Turkish Journal of Medical Sciences, 2020
ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
Shinar Y et al.
Clinical Chemistry, 2020
British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant, and a review of the literature.
Rowczenio DM et al.
Rheumatology (oxford, England), 2020
Familial Mediterranean Fever.
Ozdogan H et al.
Presse Medicale (paris, France : 1983), 2019
The Pyrin Inflammasome in Health and Disease.
Schnappauf O et al.
Frontiers in Immunology, 2019
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Gaggiano C et al.
Mediators of Inflammation, 2019
Long-term follow-up of paediatric MEFV carriers.
Makay B et al.
Clinical Rheumatology, 2018
Function and mechanism of the pyrin inflammasome.
Heilig R et al.
European Journal of Immunology, 2018
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
Differential Expression of miR-4520a Associated With Pyrin Mutations in Familial Mediterranean Fever (FMF).
Latsoudis H et al.
Journal of Cellular Physiology, 2017
Dominant familial Mediterranean fever.
Sarrabay G et al.
Rheumatology (oxford, England), 2017
Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management.
Özen S et al.
Frontiers in Immunology, 2017
The detection of a novel insertion mutation in exon 2 of the MEFV gene associated with familial mediterranean fever in a moroccan family.
Mejtoute T et al.
Human Genome Variation, 2017
The MEFV gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population.
Battal F et al.
Balkan Journal of Medical Genetics : Bjmg, 2016
Clinical and Genetic Features of Patients With TNFRSF1A Variants in Japan: Findings of a Nationwide Survey.
Ueda N et al.
Arthritis & Rheumatology (hoboken, N.j.), 2016
Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation.
Masters SL et al.
Science Translational Medicine, 2016
Pulmonary Necrotizing Granulomas in a patient with familial mediterranean fever.
Kushima H et al.
Modern Rheumatology, 2015
The coincidence of familial mediterranean Fever and hypereosinophilia in a patient with hereditary elliptocytosis.
Keklik M et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2014
A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever.
Dogan H et al.
Bmc Medical Genetics, 2014
Working the endless puzzle of hereditary autoinflammatory disorders.
Caso F et al.
Modern Rheumatology, 2014
MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.
Stoffels M 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
Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature.
Touitou I
Journal of Medical Genetics, 2013
The risk of familial Mediterranean fever in MEFV heterozygotes: a statistical approach.
Jéru I et al.
Plos One, 2013
Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey.
Yesilada E et al.
Gene, 2012
Concomitance of Gitelman syndrome and familial Mediterranean fever: a rare case presentation.
Erten S et al.
Renal Failure, 2012
Familial mediterranean Fever: a retrospective clinical and molecular study in the East of anatolia region of Turkey.
Etem EO et al.
The Open Rheumatology Journal, 2010
Familial Mediterranean fever with a single MEFV mutation: where is the second hit?
Booty MG et al.
Arthritis and Rheumatism, 2009