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
The enigma of familial Mediterranean fever: phenotypic characterization of patients harbouring variants of uncertain significance.
Ulu K et al.
Rheumatology (oxford, England), 2025
Colitis in a patient with familial Mediterranean fever: Is it Crohn's disease or ulcerative colitis?
Hoshi A et al.
Den Open, 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
Molecular investigation of MEFV gene polymorphisms among patients with familial mediterranean fever-like symptoms.
Ahmed NE et al.
Cellular and Molecular Biology (noisy-le-grand, France), 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
Sequence analysis in Familial Mediterranean Fever patients with no confirmatory genotype.
Sgouropoulou V et al.
Rheumatology International, 2022
Evaluation of S100A12 protein levels in children with familial Mediterranean fever
Türkmenoğlu Y et al.
Turkish Journal of Medical Sciences, 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
Characteristics of patients with familial Mediterranean fever in Denmark: a retrospective nationwide register-based cohort study.
Mortensen SB et al.
Scandinavian Journal of Rheumatology, 2020
Spectrum of MEFV Variants and Genotypes among Clinically Diagnosed FMF Patients from Southern Lebanon.
El Roz A et al.
Medical Sciences (basel, Switzerland), 2020
The association of MEFV gene mutations with the disease risk and severity of systemic juvenile idiopathic arthritis.
Zhong L et al.
Pediatric Rheumatology Online Journal, 2020
Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever.
Accetturo M et al.
Rheumatology (oxford, England), 2020
A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever.
Balta B et al.
Molecular Biology Reports, 2020
FMF is not always "fever": from clinical presentation to "treat to target".
Maggio MC et al.
Italian Journal of Pediatrics, 2020
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N et al.
Frontiers in Immunology, 2020
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.
Karacan İ et al.
Rheumatology International, 2019
Molecular Patterns of MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever: A Retrospective Cohort Study.
Mansour AR et al.
International Journal of Inflammation, 2019
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Gaggiano C et al.
Mediators of Inflammation, 2019
Familial Mediterranean fever in Chinese adult patients.
Wu D et al.
Rheumatology (oxford, England), 2018
The Role of Familial Mediterranean Fever Gene Mutation in Treatment of Infantile Colitis With Resistant Perianal Fistula.
Baran M et al.
Archives of Rheumatology, 2018
Lack of clear and univocal genotype-phenotype correlation in familial Mediterranean fever patients: A systematic review.
Gangemi S et al.
Clinical Genetics, 2018
MEFV gene mutations and clinical course in pediatric patients with Henoch-Schönlein purpura.
Can E et al.
Archivos Argentinos De Pediatria, 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
Whole genome microarray expression analysis in blood identifies pathways linked to signs and symptoms of a patient with hypercalprotectinaemia and hyperzincaemia.
Isaksson HS et al.
Clinical and Experimental Immunology, 2018
Genetic epidemiology of familial Mediterranean fever through integrative analysis of whole genome and exome sequences from Middle East and North Africa.
Koshy R et al.
Clinical Genetics, 2018
Egyptian tale from India: application of whole-exome sequencing in diagnosis of atypical familial Mediterranean fever.
Sandhya P et al.
International Journal of Rheumatic Diseases, 2017
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.
Papa R et al.
Orphanet Journal of Rare Diseases, 2017
MEFV mutations and their relation to major clinical symptoms of Familial Mediterranean Fever.
Cekin N et al.
Gene, 2017
A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing.
Tada H et al.
Journal of Atherosclerosis and Thrombosis, 2016
Study of the association of IL-1β and IL-1RA gene polymorphisms with occurrence and severity of Familial Mediterranean fever.
Ibrahim JN et al.
European Journal of Medical Genetics, 2015
Familial Mediterranean fever gene mutations in north-eastern part of Anatolia with special respect to rare mutations.
Dogan H et al.
Gene, 2015
Febrile seizures in children with familial Mediterranean fever: Coincidence or association?
Çomak E et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015
Global epidemiology of Familial Mediterranean fever mutations using population exome sequences.
Fujikura K
Molecular Genetics & Genomic Medicine, 2015
MEFV mutations in Egyptian children with systemic-onset juvenile idiopathic arthritis.
Lotfy HM et al.
Molecular Diagnosis & Therapy, 2014
Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children.
Ozen S et al.
Annals of the Rheumatic Diseases, 2014
Familial Mediterranean fever: An updated review.
Sarı İ et al.
European Journal of Rheumatology, 2014
Novel therapeutics for the treatment of familial Mediterranean fever: from colchicine to biologics.
Grattagliano I et al.
Clinical Pharmacology and Therapeutics, 2014
Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey.
Oztuzcu S et al.
Molecular Biology Reports, 2014
MEFV gene mutations in Turkish children with juvenile idiopathic arthritis.
Comak E et al.
European Journal of Pediatrics, 2013
Frequency of MEFV mutation and genotype-phenotype correlation in cases with dysmenorrhea.
Ocak Z et al.
The Journal of Obstetrics and Gynaecology Research, 2013
Prevalence and significance of the MEFV gene mutations in childhood Henoch-Schönlein purpura without FMF symptoms.
Dogan CS et al.
Rheumatology International, 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 with pulmonary manifestations alone; early diagnosis with genetic analysis].
Sever F et al.
Tuberkuloz Ve Toraks, 2012
Comment on: Familial Mediterranean fever caused by homozygous E148Q mutation complicated by Budd-Chiari syndrome and polyarteritis nodosa.
Konstantopoulos K et al.
Rheumatology (oxford, England), 2011
Genetics and new treatment modalities for familial Mediterranean fever.
Bhat A et al.
Annals of the New York Academy of Sciences, 2007
MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever.
Giaglis S et al.
Clinical Genetics, 2007