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
Inflammatory biomarker analysis confirms reduced disease severity in heterozygous patients with familial Mediterranean fever.
Elhani I et al.
Rmd Open, 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
Implementation of long-read sequencing for routine molecular diagnosis of familial mediterranean fever.
Vanhoye X et al.
Practical Laboratory Medicine, 2024
Phenotype-genotype correlation in children with familial Mediterranean fever in Morocco.
Souali M et al.
Qatar Medical Journal, 2024
An Update on Familial Mediterranean Fever.
Lancieri M et al.
International Journal of Molecular Sciences, 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
Phenotypic characterization of Familial Mediterranean Fever patients harboring variants of uncertain significance
Sarı A et al.
Turkish Journal of Medical Sciences, 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
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
Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review
Tufan A et al.
Turkish Journal of Medical Sciences, 2020
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
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 Profile of Familial Mediterranean Fever in a Paediatric Population in Eastern Turkey.
Kosan C et al.
The West Indian Medical Journal, 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
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
Novel therapeutics for the treatment of familial Mediterranean fever: from colchicine to biologics.
Grattagliano I et al.
Clinical Pharmacology and Therapeutics, 2014
Spectrum of mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients of the Central Anatolia region: a comparison of two mutation detection system.
Zamani AG et al.
Genetics and Molecular Research : Gmr, 2013
Comparative screening of FMF mutations in various communities of the Israeli society.
Sharkia R et al.
European Journal of Medical Genetics, 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
Renal amyloidosis due to familial mediterranean fever misdiagnosed.
Hama I et al.
Indian Journal of Human Genetics, 2012
Liver involvement in children with Familial Mediterranean fever.
Unal F et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2012
MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever.
Belmahi L et al.
Rheumatology International, 2012
MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever.
Giaglis S et al.
Clinical Genetics, 2007
Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF).
Goulielmos GN et al.
Biochemical and Biophysical Research Communications, 2006
Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever.
Belmahi L et al.
Comptes Rendus Biologies, 2006
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
Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever.
Dodé C et al.
American Journal of Medical Genetics, 2000