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
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
The clinical effect of gene mutations in familial Mediterranean fever disease.
Güngörer V et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 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
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
Clinical and Demographic Evaluation According to MEFV Genes in Patients with Familial Mediterranean Fever.
Sönmezgöz E et al.
Biochemical Genetics, 2019
Long-term follow-up of paediatric MEFV carriers.
Makay B et al.
Clinical Rheumatology, 2018
One novel and two uncommon MEFV mutations in Japanese patients with familial Mediterranean fever: a clinicogenetic study.
Kishida D et al.
Rheumatology International, 2018
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.
Papa R et al.
Orphanet Journal of Rare Diseases, 2017
Analysis of the Most Common Three MEFV Mutations in 630 Patients with Familial Mediterranean Fever in Iranian Azeri Turkish Population.
Bagheri M et al.
Maedica, 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
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
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
Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance.
Shinar Y et al.
Rheumatology (oxford, England), 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
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
Familial Mediterranean fever: effects of genotype and ethnicity on inflammatory attacks and amyloidosis.
Mimouni A et al.
Pediatrics, 2000
Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients.
Medlej-Hashim M et al.
Human Mutation, 2000
Pyrin/marenostrin mutations in familial Mediterranean fever.
Booth DR et al.
Qjm : Monthly Journal of the Association of Physicians, 1998