Associated Papers
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
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
Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review
Tufan A et al.
Turkish Journal of Medical Sciences, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family.
Haskell GT et al.
The Journal of Heart Valve Disease, 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
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
Global epidemiology of Familial Mediterranean fever mutations using population exome sequences.
Fujikura K
Molecular Genetics & Genomic Medicine, 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
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
The crystal structure of human pyrin b30.2 domain: implications for mutations associated with familial Mediterranean fever.
Weinert C et al.
Journal of Molecular Biology, 2009
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
The spectrum of Familial Mediterranean Fever (FMF) mutations.
Touitou I
European Journal of Human Genetics : Ejhg, 2001