Associated Papers
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
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
Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review
Tufan A et al.
Turkish Journal of Medical Sciences, 2020
Mediterranean fever (MEFV) gene profile and a novel missense mutation (P313H) in Iranian Azari-Turkish patients.
Rostamizadeh L et al.
Annals of Human Genetics, 2020
Coexisting Diseases in Patients with Familial Mediterranean Fever.
Salehzadeh F et al.
Open Access Rheumatology : Research and Reviews, 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
Dominant familial Mediterranean fever.
Sarrabay G et al.
Rheumatology (oxford, England), 2017
Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration.
Rowczenio DM et al.
Rheumatology (oxford, England), 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 Review: Familial Mediterranean Fever-An Overview of Pathogenesis, Symptoms, Ocular Manifestations, and Treatment.
Petrushkin H et al.
Ocular Immunology and Inflammation, 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 spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T).
Coşkun S et al.
Gene, 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
Working the endless puzzle of hereditary autoinflammatory disorders.
Caso F et al.
Modern Rheumatology, 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
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
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
Standardized testing for mutations in familial Mediterranean fever.
Touitou I
Clinical Chemistry, 2003