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
Molecular analyses of MEFV gene mutation variants in Turkish population.
Aksoy R et al.
Molecular Biology Reports, 2024
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
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
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
Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.
De Pieri C et al.
Pediatric Rheumatology Online Journal, 2015
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 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
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
Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states.
Schaner P et al.
Nature Genetics, 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