Associated Papers
Genotype Mutations in Palestinian Children with Familial Mediterranean Fever: Clinical Profile, and Response to Colchicine Treatment: A Retrospective Cohort Study.
Shrateh ON et al.
Mediterranean Journal of Rheumatology, 2023
An Update on Familial Mediterranean Fever.
Lancieri M et al.
International Journal of Molecular Sciences, 2023
Implications of combined NOD2 and other gene mutations in autoinflammatory diseases.
Nomani H et al.
Frontiers in Immunology, 2023
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.
Jain A et al.
Journal, Genetic Engineering & Biotechnology, 2021
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
A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever.
Balta B et al.
Molecular Biology Reports, 2020
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Ji J et al.
Cold Spring Harbor Molecular Case Studies, 2019
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Gaggiano C et al.
Mediators of Inflammation, 2019
Does thiol-disulphide balance show oxidative stress in different MEFV mutations?
Balta B et al.
Rheumatology International, 2018
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
Clinical Review: Familial Mediterranean Fever-An Overview of Pathogenesis, Symptoms, Ocular Manifestations, and Treatment.
Petrushkin H et al.
Ocular Immunology and Inflammation, 2016
Intestinal malrotation as a misdiagnosis of pediatric colchicine resistant familial Mediterranean fever.
Heshin-Bekenstein M et al.
Pediatric Rheumatology Online Journal, 2015
Global epidemiology of Familial Mediterranean fever mutations using population exome sequences.
Fujikura K
Molecular Genetics & Genomic Medicine, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Novel therapeutics for the treatment of familial Mediterranean fever: from colchicine to biologics.
Grattagliano I et al.
Clinical Pharmacology and Therapeutics, 2014
Familial mediterranean fever: a fascinating model of inherited autoinflammatory disorder.
Portincasa P et al.
European Journal of Clinical Investigation, 2013
Rare MEFV variants are not associated with risk to develop multiple sclerosis and severity of disease.
Pauwels I et al.
Multiple Sclerosis (houndmills, Basingstoke, England), 2013
Association between sequence variations of the Mediterranean fever gene and fibromyalgia syndrome in a cohort of Turkish patients.
Karakus N et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
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
Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.
Feng J et al.
Plos One, 2009