Associated Papers
Molecular analyses of MEFV gene mutation variants in Turkish population.
Aksoy R et al.
Molecular Biology Reports, 2024
An Update on Familial Mediterranean Fever.
Lancieri M et al.
International Journal of Molecular Sciences, 2023
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Gaggiano C et al.
Mediators of Inflammation, 2019
Function and mechanism of the pyrin inflammasome.
Heilig R et al.
European Journal of 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
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
The frequency of Familial Mediterranean fever gene mutations and genotypes at Kirikkale and comparison with the mean of regional MEFV mutation frequency of Turkey.
Sayın Kocakap DB et al.
Molecular Biology Reports, 2014
Novel therapeutics for the treatment of familial Mediterranean fever: from colchicine to biologics.
Grattagliano I et al.
Clinical Pharmacology and Therapeutics, 2014
Expression of the familial Mediterranean fever gene is regulated by nonsense-mediated decay.
Grandemange S et al.
Human Molecular Genetics, 2009
Pyrin Modulates the Intracellular Distribution of PSTPIP1.
Waite AL et al.
Plos One, 2009
Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts: a prominent splice isoform lacks the C-terminal domain that is highly mutated in familial Mediterranean fever.
Diaz A et al.
Arthritis and Rheumatism, 2004
Familial Mediterranean fever is no longer a rare disease in Italy.
La Regina M et al.
European Journal of Human Genetics : Ejhg, 2003
Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever.
Notarnicola C et al.
Arthritis and Rheumatism, 2002
Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease.
Timmann C et al.
Mutation Research, 2001
The spectrum of Familial Mediterranean Fever (FMF) mutations.
Touitou I
European Journal of Human Genetics : Ejhg, 2001
Y688X, the first nonsense mutation in familial Mediterranean fever (FMF).
Notarnicola C et al.
Human Mutation, 2001
[Familial Mediterranean fever: an ancient hereditary disease].
Nucera G et al.
Annali Italiani Di Medicina Interna : Organo Ufficiale Della Societa Italiana Di Medicina Interna, 0