Associated Papers
The enigma of familial Mediterranean fever: phenotypic characterization of patients harbouring variants of uncertain significance.
Ulu K et al.
Rheumatology (oxford, England), 2025
Molecular analyses of MEFV gene mutation variants in Turkish population.
Aksoy R et al.
Molecular Biology Reports, 2024
Loss of tissue-type plasminogen activator causes multiple developmental anomalies.
Uguen K et al.
Brain Communications, 2024
39574431 (PubMed )
Supplement: fcae408_supplementary_data.zip › Supplementary_Table_1.xlsx › Supplementary_Table_1
An Update on Familial Mediterranean Fever.
Lancieri M et al.
International Journal of Molecular Sciences, 2023
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.
Jain A et al.
Journal, Genetic Engineering & Biotechnology, 2021
34905135 (PubMed )
Supplement: 43141_2021_268_MOESM2_ESM.xlsx › Sheet1
The role of Mediterranean fever gene variants in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome.
Yildiz M et al.
European Journal of Pediatrics, 2021
A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever.
Balta B et al.
Molecular Biology Reports, 2020
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
Clinical Review: Familial Mediterranean Fever-An Overview of Pathogenesis, Symptoms, Ocular Manifestations, and Treatment.
Petrushkin H et al.
Ocular Immunology and Inflammation, 2016
Global epidemiology of Familial Mediterranean fever mutations using population exome sequences.
Fujikura K
Molecular Genetics & Genomic Medicine, 2015
Working the endless puzzle of hereditary autoinflammatory disorders.
Caso F et al.
Modern Rheumatology, 2014
Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a "heterozygote advantage" in Turkey?
Berdeli A et al.
Genetic Testing and Molecular Biomarkers, 0
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