Associated Papers
The 2024 update of IUIS phenotypic classification of human inborn errors of immunity.
Bousfiha AA et al.
Journal of Human Immunity, 2025
Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.
Poli MC et al.
Journal of Human Immunity, 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
New Diseases Linked to MEFV Variants or Pyrinopathies.
Mertz P et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2025
Molecular analyses of MEFV gene mutation variants in Turkish population.
Aksoy R et al.
Molecular Biology Reports, 2024
Phenotype-genotype correlation in children with familial Mediterranean fever in Morocco.
Souali M et al.
Qatar Medical Journal, 2024
Attempts to identify the molecular cause of autoinflammatory recurrent fever.
Boyarchuk O et al.
Reumatologia, 2024
Steroid hormone catabolites activate the pyrin inflammasome through a non-canonical mechanism.
Magnotti F et al.
Cell Reports, 2022
Familial Mediterranean Fever: How to Interpret Genetic Results? How to Treat? A Quarter of a Century After the Association with the Mefv Gene.
Batu ED et al.
Current Rheumatology Reports, 2022
Rare genetic causes of meningitis and encephalitis.
Moon J
Encephalitis (seoul, Korea), 2022
Is neutrophilic dermatosis a manifestation of familial Mediterranean fever?
Delplanque M et al.
Scandinavian Journal of Rheumatology, 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
Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.
Honda Y et al.
Journal of Clinical Immunology, 2021
Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2021
"Helicobacter pylori in familial mediterranean fever: A series of 120 patients from literature and from france".
Lacout C et al.
Helicobacter, 2021
PAPASH syndrome with MEFV gene mutation.
Monte Serrano J et al.
Medicina Clinica, 2021
Spectrum of MEFV Variants and Genotypes among Clinically Diagnosed FMF Patients from Southern Lebanon.
El Roz A et al.
Medical Sciences (basel, Switzerland), 2020
British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant, and a review of the literature.
Rowczenio DM et al.
Rheumatology (oxford, England), 2020
How to prescribe a genetic test for the diagnosis of autoinflammatory diseases?
Rowczenio DM et al.
Presse Medicale (paris, France : 1983), 2019
Familial Mediterranean Fever.
Ozdogan H et al.
Presse Medicale (paris, France : 1983), 2019
The Pyrin Inflammasome in Health and Disease.
Schnappauf O et al.
Frontiers in Immunology, 2019
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Gaggiano C et al.
Mediators of Inflammation, 2019
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
Dominant familial Mediterranean fever.
Sarrabay G et al.
Rheumatology (oxford, England), 2017
Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration.
Rowczenio DM et al.
Rheumatology (oxford, England), 2017
Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management.
Özen S et al.
Frontiers in Immunology, 2017
A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever.
Dogan H et al.
Bmc Medical Genetics, 2014
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
Renal amyloidosis due to familial mediterranean fever misdiagnosed.
Hama I et al.
Indian Journal of Human Genetics, 2012
MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever.
Belmahi L et al.
Rheumatology International, 2012
MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever.
Bonyadi M et al.
Clinical Genetics, 2009
Multiplex molecular diagnosis of MEFV mutations in patients with familial Mediterranean fever by LightCycler real-time PCR.
Rossou E et al.
Clinical Chemistry, 2005
Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects.
Medlej-Hashim M et al.
Bmc Medical Genetics, 2004
Standardized testing for mutations in familial Mediterranean fever.
Touitou I
Clinical Chemistry, 2003
[The association of polyarteritis nodosa and familial Mediterranean fever].
Bosacki C et al.
Presse Medicale (paris, France : 1983), 2003
Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations.
Medlej-Hashim M et al.
European Journal of Human Genetics : Ejhg, 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 in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.
Mansour I et al.
European Journal of Human Genetics : Ejhg, 2001
Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients.
Medlej-Hashim M et al.
Human Mutation, 2000
MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever.
Akar N et al.
Human Mutation, 2000
Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
Bernot A et al.
Human Molecular Genetics, 1998
[A dominant form of pseudoachondroplastic dysplasia. A familial case (author's transl)].
Fontaine G et al.
La Presse Medicale, 1979
[ACROMIOCLAVICULAR CHANGES AS A CAUSE OF PAINFUL SHOULDER].
KAWENOKI-MINC E et al.
Reumatologia, 1964
[Familial Mediterranean Fever (FMF): from diagnosis to treatment].
Medlej-Hashim M et al.
Sante (montrouge, France), 0
Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia.
Yildirim ME et al.
Annals of Saudi Medicine, 0