نتایج جستجو برای: mefv mutation
تعداد نتایج: 292011 فیلتر نتایج به سال:
Introduction Familial Mediterranean Fever ( FMF ) is an autosomal recessive inherited disease mostly wide spread in the Mediterranean basin. It is manifested by a fever associated with paroxystic painful attacks. The prognosis is determined by the occurrence of renal amyloidosis. The purpose of our work is to establish a genotypephenotype correlation between the MEFV gene mutation and the expre...
Introduction Familial mediterranean fever (FMF) is a rare monogenic disease and the prototype of autoinflammatory disorders. It is caused by mutations in the MEFV gene and is autosomal recessively inherited. Most mutations are missense substitutions, small deletions are quite rare, and only three nonsense mutation has been described (http://fmf.igh.cnrs. fr/ISSAID/infevers/). Large rearrangemen...
Methods Twenty-nine patients followed up in our clinic with FMF-SPA who fulfilled ASAS classification criteria for axial spondyloarthritis. To figure out only characteristics of FMF-SPA, we excluded those patients with psoriasis, Crohn disease/ulcerative colitis or positive HLA-B27 tests. Patient demographics, clinical features and MEFV mutation analyzes were recorded. All patients underwent sa...
سابقه و هدف : تب مدیترانه ای قامیلی (fmf) یک بیماری اتوزومال مغلوب می باشد که مشخصه آن دوره های کوتاه التهاب در غشاهای سروزی است. این بیماری در جمعیت مدیترانه غربی بیشترین شیوع را دارد. ژن mefv تنها ژنی می باشد که تاکنون در ارتباط با این بیماری شناخته شده است. مطالعات انجام شده نشان داده است که 6% از یهودیان ایرانی ساکن اسرائیل حامل جهش در ژن mefv می باشند. در این مطالعه سه جهش شناخته شده این ژ...
Genome-wide association studies (GWAS) are a powerful means of identifying genes with disease-associated common variants, but they are not well-suited to detecting genes with disease-associated rare and low-frequency variants. In the current study of Behçet disease (BD), nonsynonymous variants (NSVs) identified by deep exonic resequencing of 10 genes found by GWAS (IL10, IL23R, CCR1, STAT4, KLR...
The purpose of this study was to determine the spectrum of the most common mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients from the Central Anatolia region, by using two different methods for detecting FMF-associated mutations with different screening panels, and compare our results with other diagnostic molecular genetics centers. A total of 1579 patients were ana...
BACKGROUND Familial Mediterranean fever (FMF) is an autosomal recessive genetic disorder characterized by recurrent episodes of self-limited fever and serosal tissues inflammation. METHODS To evaluate clinical symptoms and common genetic mutations in southwestern Iranian patients with FMF, 20 unrelated patients were enrolled in this study based on clinical criteria. A panel of 12 common MEFV ...
Objective(s):Familial Mediterranean fever (FMF), an inherited autosomal recessive disorder, is frequently present among individuals of Mediterranean origin. Differences in the clinical manifestations of FMF between different ethnic groups have been documented. The aim of the present study was to determine the most common characteristics of FMF and the relationship between clinical findings and ...
Comment on: Familial Mediterranean fever caused by homozygous E148Q mutation complicated by Budd Chiari syndrome and polyarteritis nodosa SIR, We read with interest the letter by Standing et al. [1] on a case of FMF complicated by PAN and Budd Chiarri syndrome (BCS). This case deserves special interest as the authors claim a pathophysiological association of FMF not only with PAN but also with ...
OBJECTIVE Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent febrile attacks accompanied by serosal and synovial membrane inflammation. FMF is caused by mutations in the MEFV gene and are found usually among Mediterranean populations, Armenians, Turks, Arabs and Jews. The aim of this study was to determine the frequency of MEFV gene mutations among ...
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