Associated Papers
Central nervous system involvement in pediatric hemophagocytic lymphohistiocytosis: A single-center descriptive study of clinical features, neurodiagnostic findings, and outcomes.
Nath M et al.
Clinical Hematology International, 2026
Inflammatory biomarker analysis confirms reduced disease severity in heterozygous patients with familial Mediterranean fever.
Elhani I et al.
Rmd Open, 2024
Phenotype-genotype correlation in children with familial Mediterranean fever in Morocco.
Souali M et al.
Qatar Medical Journal, 2024
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.
Kernan KF et al.
Journal of Clinical Immunology, 2022
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 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
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
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 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
Function and mechanism of the pyrin inflammasome.
Heilig R et al.
European Journal of Immunology, 2018
Comprehensive analysis of mutations in the MEFV gene reveal that the location and not the substitution type determines symptom severity in FMF.
Moradian MM et al.
Molecular Genetics & Genomic Medicine, 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
Anti-interleukin 1 treatment in secondary amyloidosis associated with autoinflammatory diseases.
Topaloglu R et al.
Pediatric Nephrology (berlin, Germany), 2016
MEFV mutations in Egyptian children with systemic-onset juvenile idiopathic arthritis.
Lotfy HM et al.
Molecular Diagnosis & Therapy, 2014
Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V).
Gunesacar R et al.
Gene, 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
Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey.
Oztuzcu S et al.
Molecular Biology Reports, 2014
Novel double heterozygous mutations in MEFV and NLRP3 genes in a patient with familial Mediterranean fever.
Timerman D et al.
Journal of Clinical Rheumatology : Practical Reports on Rheumatic & Musculoskeletal Diseases, 2013
The scintigraphic evaluation and genetic correlation of joint involvements in pediatric patients with familial Mediterranean fever.
Aydogan F et al.
Human & Experimental Toxicology, 2013
Hereditary autoinflammatory syndromes: a Brazilian multicenter study.
Jesus AA et al.
Journal of Clinical Immunology, 2012
Systemic-onset juvenile idiopathic arthritis complicated by early onset amyloidosis in a patient carrying a mutation in the MEFV gene.
Cantarini L et al.
Rheumatology International, 2012