Results 61 to 70 of about 8,365 (219)

The relation of MEFV gene variants to clinical phenotype and selected laboratory markers in Egyptian patients with familial Mediterranean fever

open access: yesJournal of the Arab Society for Medical Research
Background/aim Familial Mediterranean fever (FMF) is an autoinflammatory disease, with a high prevalence in the Mediterranean region. It is brought out by variants in the MEFV gene.
Hala T. El-Bassyouni   +6 more
doaj   +1 more source

Anesthesia experience along with familial Mediterranean fever and celiac disease [PDF]

open access: yes, 2014
(Anesthetic management in patient with Familial Mediterranean Fever and Celiac Disease) Familial Mediterranean Fever is an autosomal recessive transmitted disease which often seen at Mediterranean origin society and it goes by deterioration at ...
Gülçin Hacıbeyoğlu   +3 more
core   +1 more source

Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease [PDF]

open access: yes, 2013
Fabry disease (FD) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever (FMF).
A.l.b.e.g.g.i.a.n.i. G   +8 more
core  

Inhaled corticosteroids and growth of airway function in asthmatic children [PDF]

open access: yes, 2004
Airway inflammation and remodelling play an important role in the pathophysiology of asthma. Remodelling may affect childhood lung function, and this process may be reversed by anti-inflammatory treatment.
Duiverman, E.J. (Eric)   +6 more
core   +2 more sources

Development and External Validation of a Genetic Risk Score for Pain in Rheumatoid Arthritis

open access: yesArthritis Care &Research, Volume 77, Issue 12, Page 1409-1417, December 2025.
Objective Several single‐nucleotide polymorphisms (SNPs) have been associated with chronic pain syndromes. Our objective was to determine whether genetic variants are associated with pain and disease activity in rheumatoid arthritis (RA). Methods Participants were included from two independent RA cohorts: FORWARD (National Databank for Rheumatic ...
Katie J. McMenamin   +15 more
wiley   +1 more source

Investigation of MEFV gene polymorphisms (G138G and A165A) in adult patients with familial Mediterranean fever

open access: yesRevista Brasileira de Reumatologia
Aim: Various mutations have been identified in the Mediterranean fever (MEFV) gene which is reported to be responsible from Familial Mediterranean fever (FMF).
Mustafa Ferhat Öksuz   +7 more
doaj   +1 more source

Frequencies of the Common Mefv Gene Mutations in Adiyaman, Southeast Anatolia, Turkey

open access: yesBalkan Journal of Medical Genetics, 2014
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by fever and serosal inflammation. The reasons for the disorder are mutations in the Mediterranean fever (MEFV) gene; the most common of which are M694V, M680I, M694I and
Korkmaz D. T., Atak P. G., Çelik Ç.
doaj   +1 more source

Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study [PDF]

open access: yes, 2015
Periodic fever syndromes (PFS) are an emerging group of autoinflammatory disorders. Clinical overlap exists and multiple genetic analyses may be needed to assist diagnosis.
Athanasakis, Emmanouil   +10 more
core   +3 more sources

PW01-003 – Frequency of MEFV mutations in Turkish population [PDF]

open access: yesPediatric Rheumatology, 2013
Our results showed that 62 of 388 participants (16.0%) (95% CI:12.5-20.0) were carriers of MEFV mutations. Seven individuals were compound heterozygous, two homozygous and 53 were heterozygous for the mutations. Mutation frequency was 9.2% (95% CI: 7.22-11.4). The most common mutations in the Turkish general population were p.E148Q, p.M694V and p.P369S
Yalcinkaya, F   +6 more
openaire   +2 more sources

Inflammation and genetics in myo‐pericardial diseases: Insights from the Italian Study Group on Cardiomyopathies and Pericardial Diseases

open access: yesESC Heart Failure, Volume 12, Issue 6, Page 3987-3999, December 2025.
Proposed management of myo‐pericardial diseases. A systematic interdisciplinary approach to myo‐pericardial disease is essential to reach a correct diagnosis, starting from multiparametric characterization including EKG, echocardiography with GLS, laboratory exams and CMR or, in case of electric or haemodynamic instability, EMB.
Marco Merlo   +18 more
wiley   +1 more source

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