Associated Papers
Genetic, and clinical features in Italian and lebanese subjects with familial mediterranean fever (FMF).
Jaber N et al.
European Journal of Internal Medicine, 2026
Genotype-phenotype correlations and resistance to colchicine in a familial Mediterranean fever cohort in southwestern Spain.
Quiles CH et al.
European Journal of Internal Medicine, 2025
Neurological involvement in children with familial Mediterranean fever: a systematic review.
La Bella S et al.
Pediatric Rheumatology Online Journal, 2025
Anakinra during pregnancy and lactation for corticosteroid-dependant colchicine-resistant recurrent pericarditis in a patient with neutralizing anti-interleukin-1 receptor antagonist antibodies: a case report.
Cerne Cercek A et al.
European Heart Journal. Case Reports, 2025
Elderly-onset Familial Mediterranean Fever Carrying MEFV Exon 10 Variants in a Japanese Patient.
Fujita Y et al.
Internal Medicine (tokyo, Japan), 2025
The enigma of familial Mediterranean fever: phenotypic characterization of patients harbouring variants of uncertain significance.
Ulu K et al.
Rheumatology (oxford, England), 2025
Unexpectedly high prevalence of familial Mediterranean fever in Slovakia.
Jesenak M et al.
Clinical and Experimental Medicine, 2025
Familial Mediterranean fever and MEFV gene variants in hidradenitis suppurativa: A systematic review.
Aw K et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025
Familial Mediterranean Fever; Recent Advances, Future Prospectives.
Romano M et al.
Diagnostics (basel, Switzerland), 2025
PASH syndrome: A novel MEFV mutation variant with excellent response to adalimumab in a refractory case.
Feola H et al.
International Journal of Dermatology, 2025
Case Report: Diagnostic difficulties, treatment, and association of the MEFV E148Q variant in a patient with PASH syndrome.
Qin Q et al.
Frontiers in Medicine, 2025
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
Exploring factors for predicting colchicine responsiveness in children with PFAPA.
Özaslan Z et al.
European Journal of Pediatrics, 2024
Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.
Muret K et al.
International Journal of Molecular Sciences, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Implementation of long-read sequencing for routine molecular diagnosis of familial mediterranean fever.
Vanhoye X et al.
Practical Laboratory Medicine, 2024
Molecular analyses of MEFV gene mutation variants in Turkish population.
Aksoy R et al.
Molecular Biology Reports, 2024
Hidradenitis Suppurativa-Related Autoinflammatory Syndromes: An Updated Review on the Clinics, Genetics, and Treatment of Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PASH), Pyogenic Arthritis, Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PAPASH), Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO), and Rarer Forms.
Maronese CA et al.
Dermatologic Clinics, 2024
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half.
Bar O et al.
International Journal of Molecular Sciences, 2024
Familial Mediterranean fever gene variations could trigger VPS16-associated early-onset dystonia and diabetes mellitus: clinical identification of a family with MEFV and VPS16 genetic variation association.
Inalkac Gemici Y et al.
Rheumatology Advances in Practice, 2024
Phenotype-genotype correlation in children with familial Mediterranean fever in Morocco.
Souali M et al.
Qatar Medical Journal, 2024
Disease severity and genotype-phenotype correlation in adult patients with familial Mediterranean fever.
Tuncer Kuru F et al.
Modern Rheumatology, 2023
Osteopontin as an early predictor of atherosclerosis in attack-free Familial Mediterranean fever patients.
Baspinar O et al.
Medicine, 2023
Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy.
Di Ciaula A et al.
European Journal of Internal Medicine, 2023
Frequency of Familial Mediterranean Fever Gene Mutation in Patients Presenting With Joint Pain and Diagnosed With Acute Rheumatic Fever.
Gullu UU et al.
Cureus, 2023
Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome.
Kışla Ekinci RM et al.
Archives of Rheumatology, 2023
Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.
Bar O et al.
Frontiers in Neurology, 2023
Implications of combined NOD2 and other gene mutations in autoinflammatory diseases.
Nomani H et al.
Frontiers in Immunology, 2023
Late-onset familial mediterranean fever: single-center experience and literature review.
Aydin O et al.
Internal and Emergency Medicine, 2022
Conventional and novel therapeutic options in children with familial Mediterranean fever: A rare autoinflammatory disease.
Poddighe D et al.
British Journal of Clinical Pharmacology, 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
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
Familial Mediterranean fever in the pediatric population.
Llobet-Agulló P et al.
Allergologia Et Immunopathologia, 2022
Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.
Perfilyeva A et al.
Disease Markers, 2022
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.
Jain A et al.
Journal, Genetic Engineering & Biotechnology, 2021
Prediction of More Severe MEFV Gene Mutations in Childhood.
Güneş-Yılmaz S et al.
Turkish Archives of Pediatrics, 2021
Update in familial Mediterranean fever.
Ozen S
Current Opinion in Rheumatology, 2021
Comparison of Pediatric Familial Mediterranean Fever Patients Carrying Only E148Q Variant With the Ones Carrying Homozygous Pathogenic Mutations.
Tanatar A et al.
Journal of Clinical Rheumatology : Practical Reports on Rheumatic & Musculoskeletal Diseases, 2021
Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.
Honda Y et al.
Journal of Clinical Immunology, 2021
Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19.
Monticelli M et al.
European Journal of Medical Genetics, 2021
Is gene panel sequencing more efficient than clinical-based gene sequencing to diagnose autoinflammatory diseases? A randomized study.
Rama M et al.
Clinical and Experimental Immunology, 2021
Neurological manifestations of autoinflammatory diseases in Chinese adult patients.
Qin W et al.
Seminars in Arthritis and Rheumatism, 2020
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
Differential mutational profiles of familial Mediterranean fever in North Africa.
Ait-Idir D et al.
Annals of Human Genetics, 2020
The association of MEFV gene mutations with the disease risk and severity of systemic juvenile idiopathic arthritis.
Zhong L et al.
Pediatric Rheumatology Online Journal, 2020
Inflammasomes in the pathophysiology of autoinflammatory syndromes.
Tartey S et al.
Journal of Leukocyte Biology, 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
Monogenic mimics of Behçet's disease in the young.
Papadopoulou C et al.
Rheumatology (oxford, England), 2019
Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.
Vidmar L et al.
Scientific Reports, 2019