Associated Papers
Familial Mediterranean Fever Presenting with Recurrent Abdominal Pain without Periodic Fever following COVID-19: A Case Report.
Ueno N et al.
Internal Medicine (tokyo, Japan), 2026
Genetic, and clinical features in Italian and lebanese subjects with familial mediterranean fever (FMF).
Jaber N et al.
European Journal of Internal Medicine, 2026
Maternal and fetal risks in familial mediterranean fever: focus on adverse pregnancy outcomes.
Çetin Ç et al.
Clinical Rheumatology, 2026
Cachexia as an unusual presentation of familial Mediterranean fever: A case report.
Sira AM et al.
World Journal of Clinical Cases, 2026
The Relationship Between Gene Subtypes, Symptoms, and Cardiac Function in Patients with Familial Mediterranean Fever.
Kızılkaya B et al.
Journal of Clinical Medicine, 2026
Is the decision maker a key determinant of colchicine withdrawal success in paediatric heterozygous familial Mediterranean fever patients?
Özomay Baykal G et al.
Scandinavian Journal of Rheumatology, 2026
Growth and pubertal development in children with familial Mediterranean fever under colchicine therapy.
Bayrak Demirel O et al.
European Journal of Pediatrics, 2025
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
[Use of IL-1 inhibitors in the treatment of familial Mediterranean fever in pediatric rheumatology].
Hillekamp C et al.
Zeitschrift Fur Rheumatologie, 2025
Liver function changes in pediatric FMF: exploring disease dynamics and therapy impacts.
Başer Taşkın B et al.
European Journal of Pediatrics, 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
The impact of homozygous mutations in exon 10 on musculoskeletal findings in children with familial mediterranean fever.
Ozbakir C et al.
European Journal of Pediatrics, 2025
Nutritional status in children with familial Mediterranean fever.
Bahçeci O et al.
Postgraduate Medicine, 2025
Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon.
Lun MY et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
R202Q homozygosity of Mediterranean fever gene is associated with atypical clinical phenotype of familial Mediterranean fever.
Sagris D et al.
European Journal of Internal Medicine, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 2025
Genetics in a Danish Common Variable Immunodeficiency Cohort.
Drabe CH et al.
Journal of Clinical Immunology, 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
Role of Mutual Information Profile Shifts in Assessing the Pathogenicity of Mutations on Protein Functions: The Case of Pyrin Variants Associated With Familial Mediterranean Fever.
Hacisuleyman A et al.
Proteins, 2025
Unexpectedly high prevalence of familial Mediterranean fever in Slovakia.
Jesenak M et al.
Clinical and Experimental Medicine, 2025
Renal outcomes and survival in amyloidosis associated with familial Mediterranean fever: A longitudinal study.
Ozeri DJ et al.
Seminars in Arthritis and Rheumatism, 2025
Genetic and clinical features of familial Mediterranean fever in a cohort of patients with kidney failure.
Sheyyab A et al.
Journal of Nephrology, 2025
Familial Mediterranean Fever; Recent Advances, Future Prospectives.
Romano M et al.
Diagnostics (basel, Switzerland), 2025
A treatment algorithm for familial Mediterranean fever patients with menstruation-associated attacks.
Batu ED et al.
Rheumatology (oxford, England), 2025
In Silico Study of Pyrin and 14-3-3 Protein Modulation During FMF and PAAND.
Paronyan A et al.
Acs Omega, 2025
Opportunistic genomic screening has clinical utility: An interventional cohort study.
Mighton C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Increasing Importance of Genotype-Phenotype Correlations Associated with Common and Rare MEFV Gene Mutations in FMF Patients in the Last Thirty Years.
Yildirim S et al.
Journal of Clinical Medicine, 2025
A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.
Méndez-Vidal C et al.
Journal of Translational Medicine, 2025
Background and Clinical Features of a Unique and Mysterious Autoinflammatory Disease, Schnitzler Syndrome.
Műzes G et al.
International Journal of Molecular Sciences, 2025
The effect of gene dosage and age at the disease onset on the severity of familial Mediterranean fever.
Polat MC et al.
Postgraduate Medicine, 2025
A Unique Complex Variation Profile in a Patient with Familial Mediterranean Fever (FMF): Triple Homozygous E148Q-P369S-R408Q - "Case Report".
Abi Chakra N et al.
The Application of Clinical Genetics, 2025
Vasculitis as an indicator of disease severity in familial Mediterranean fever.
Barzilai A et al.
Frontiers in Immunology, 2025
Exploring the Role of MEFV Gene Mutations in Pediatric Drug-Resistant Epilepsy.
Habibi A et al.
Iranian Journal of Child Neurology, 2025
Association of Inflammasome Gene Expression Levels with Pathogenesis of Familial Mediterranean Fever in Armenians.
Hayrapetyan V et al.
International Journal of Molecular Sciences, 2024
Familial Mediterranean fever in children from central-southern Italy: a multicentric retrospective cohort study.
La Bella S et al.
Clinical Rheumatology, 2024
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
Familial Mediterranean fever: perspective on female fertility and disease course in pregnancy from a multicenter nationwide network.
Yurdakul FG et al.
Rheumatology International, 2024
Sacroiliitis in familial Mediterranean fever: A rare joint involvement of the disease.
Özçelik E et al.
Journal of Paediatrics and Child Health, 2024
Exploring factors for predicting colchicine responsiveness in children with PFAPA.
Özaslan Z et al.
European Journal of Pediatrics, 2024
E148Q variant: a familial Mediterranean fever-causing mutation or a sequence variant?
Orouk Awaad E 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
Analysis of the Effects of SAA1 Gene Polymorphisms on Renal Involvement in a Familial Mediterranean Fever Jordanian Population.
Sheyyab A et al.
The Eurasian Journal of Medicine, 2024
Molecular investigation of MEFV gene polymorphisms among patients with familial mediterranean fever-like symptoms.
Ahmed NE et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2024
Familial Mediterranean Fever: An Autoinflammatory Genetic Disorder.
Lopes Freitas R et al.
Cureus, 2024
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