نتایج جستجو برای: mefv mutation
تعداد نتایج: 292011 فیلتر نتایج به سال:
Objective We aimed to evaluate frequency and distribution MEFV gene mutation variants in patients with presumptive diagnosis of Familial Mediterranean Fever (FMF). Material Methods Patients who had undergone FMF targeted analysis between September 2018 2019 were retrospectively analyzed. Twenty-six distinct studied. Demographic clinical data study participants collected from patient charts hosp...
This study examines the frequency of TNFRSF1A gene R92Q mutation in patients with Familial Mediterranean Fever (FMF) and the role of this mutation in FMF. The study included 223 FMF patients with definite diagnosis, according to Tel-Hashomer criteria, carrying two mutations and 205 FMF patients as controls (symptomatically diagnosed) with definite diagnosis but without any of the MEFV gene muta...
BACKGROUND Traditionally, the diagnosis of familial Mediterranean fever (FMF) has been based on clinical manifestations and the physician's experience. Following the cloning of the gene associated with this disease (MEFV), genetic analysis of its mutations has become available, providing a new tool for the establishment or confirmation of the diagnosis of FMF. OBJECTIVES We analyzed the resul...
Dear Editor, Familial Mediterranean fever (FMF) is a recessively inherited disease associated with mutations in the FMF gene (MEFV), which encodes the pyrin protein. AA amyloidosis is the most devastating complication of FMF. Nonamyloid renal lesions also have been reported including vasculitis, focal diffuse glomerulonephritis, and immunoglobulin A nephropathy. M694V is the most common mutatio...
Pulmonary function tests were performed on 234 healthy non-smoking young subjects (189 males and 45 females free from respiratory and allergic symptoms). Maximal expiratory flow-volume (MEFV) curves were visually classified into five MEFV types: Type A, convex or straight flow changes; types B, C, and D, concave-convex-concave flow changes; and type E, sudden flow-fall and accompanying decrease...
BACKGROUND The MEFV gene is responsible for familial Mediterranean fever (FMF). Several disease associated mutations have been identified. The range of genetic variation in MEFV in Greek patients has not been determined. OBJECTIVE To describe a method that facilitates the routine screening of the entire coding sequence of MEFV (excluding exon 1). METHODS The non-isotopic RNase cleavage assa...
F amilial Mediterranean fever (FMF) is an autosomal recessive disorder characterised by recurrent episodes of fever and serosal inflammation, which is common in Armenian, Turkish, Arab, and Sephardic Jewish populations. For many years, its diagnosis was one of exclusion, based solely on clinical criteria. However, this difficult situation was changed in 1997 by the identification of the causati...
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