Associated Papers
Impact of Mediterranean Fever Gene Mutations on Clinical Characteristics in Patients With Inflammatory Bowel Disease.
Nakamura T et al.
Gastro Hep Advances, 2026
Whole-exome sequencing for genetic screening in high-risk populations: Insights from consanguineous Palestinian families.
Hodrob T et al.
Journal of Genetic Counseling, 2025
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
Cost-saving approach with screening of selected variants in genetic diagnosis in Turkish pediatric familial Mediterranean fever patients: a single center longitudinal study.
Sözeri B et al.
The Turkish Journal of Pediatrics, 2024
Molecular analyses of MEFV gene mutation variants in Turkish population.
Aksoy R et al.
Molecular Biology Reports, 2024
Hyperinflammatory Immune Response in COVID-19: Host Genetic Factors in Pyrin Inflammasome and Immunity to Virus in a Spanish Population from Majorca Island.
Martínez-Pomar N et al.
Biomedicines, 2023
NOD2 Versus MEFV: Differential Diagnosis of Yao Syndrome and Familial Mediterranean Fever.
Yao Q et al.
Rheumatology and Immunology Research, 2021
Prediction of More Severe MEFV Gene Mutations in Childhood.
Güneş-Yılmaz S et al.
Turkish Archives of Pediatrics, 2021
Characteristics of patients with familial Mediterranean fever in Denmark: a retrospective nationwide register-based cohort study.
Mortensen SB et al.
Scandinavian Journal of Rheumatology, 2020
A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever.
Balta B et al.
Molecular Biology Reports, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Gaggiano C et al.
Mediators of Inflammation, 2019
Molecular genetic analysis for periodic fever syndromes: a supplemental role for the diagnosis of adult-onset Still's disease.
Li H et al.
Clinical Rheumatology, 2018
Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes.
Sighart R et al.
Rheumatology International, 2018
Prevalence of Mediterranean FeVer Gene Mutations in Turkish Cypriot Population.
Galip N et al.
Archives of Rheumatology, 2017
Global epidemiology of Familial Mediterranean fever mutations using population exome sequences.
Fujikura K
Molecular Genetics & Genomic Medicine, 2015
Crystal structure of TRIM20 C-terminal coiled-coil/B30.2 fragment: implications for the recognition of higher order oligomers.
Weinert C et al.
Scientific Reports, 2015
MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.
Stoffels M 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
MEFV gene mutations in Turkish children with juvenile idiopathic arthritis.
Comak E et al.
European Journal of Pediatrics, 2013
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
Lazarin GA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
Diagnosis and management of familial Mediterranean fever: integrating medical genetics in a dedicated interdisciplinary clinic.
Zadeh N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
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
Clinical and genetic features of familial Mediterranean fever in Japan.
Tsuchiya-Suzuki A et al.
The Journal of Rheumatology, 2009
Familial Mediterranean fever with a single MEFV mutation: where is the second hit?
Booty MG et al.
Arthritis and Rheumatism, 2009
Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance.
Shinar Y et al.
Rheumatology (oxford, England), 2007
An unexpectedly high frequency of MEFV mutations in patients with anti-citrullinated protein antibody-negative palindromic rheumatism.
Cañete JD et al.
Arthritis and Rheumatism, 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
Reverse hybridization vs. DNA sequencing in the molecular diagnosis of Familial Mediterranean fever.
Delague V et al.
Genetic Testing, 2004
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
Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.
Medlej-Hashim M et al.
European Journal of Medical Genetics, 0
Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a "heterozygote advantage" in Turkey?
Berdeli A et al.
Genetic Testing and Molecular Biomarkers, 0
Complex MEFV and MVK Variations in a Syrian Child: Implications for Clinical Phenotypes and Treatment Response-A Case Report.
Kousa A et al.
Journal of Investigative Medicine High Impact Case Reports, 0