نتایج جستجو برای: mediterranean fever
تعداد نتایج: 131387 فیلتر نتایج به سال:
OBJECTIVE: Familial Mediterranean fever (FMF) is the most common and best understood disease of hereditary periodic fever syndromes. Various degrees of sensorineural hearing loss can be seen in the progression of some hereditary periodic fever syndromes. There are very limited and controversial studies in the literature with regard to hearing loss in patients diagnosed with FMF. We aimed to eva...
OBJECTIVES To determine the spectrum of mutations in the Mediterranean fever gene (MEFV) of Iranian Jews with familial Mediterranean fever (FMF) and to analyse their clinical manifestations. METHODS FMF patients with both parents of Iranian-Jewish (IJ) extraction or with one IJ parent (IJ-other, 10 of each) were characterized for clinical manifestations, and the B30.2 (PRYSPRY) domain of thei...
Methods Pathogenicity is indicated by the degree of positive association between the variant in its heteroand monozygous forms, and an FMF phenotype. Subjects genotyped with p. K695R or p.A744S from 1500 referrals for FMF genetic testing between 2010-14 performed at the Sheba Medical Center, were clinically characterized using medical records or phone interview, by an expert blinded to the geno...
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