نتایج جستجو برای: mefv gene mutations
تعداد نتایج: 1225908 فیلتر نتایج به سال:
Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder with more than 60 disease-associated mutations in the responsible gene, MEFV. In the present study, we determined 15 MEFV mutations in Iranian Azeri Turkish FMF patients. Five hundred and twenty-four unrelated patients were tested for 15 known mutations in the MEFV gene using amplification refractory mutation...
OBJECTIVE The aim of the current study was to determine the contributions of several common mutations in the Mediterranean fever (MEFV) gene, namely, E148Q, M680I, M694V and V726A, to ankylosing spondylitis (AS) susceptibility. METHODS Two investigators independently searched the literature regarding the association of MEFV with AS in the PubMed, EMBASE, Web of Science, and Scopus databases. ...
Familial Mediterranean fever (FMF) is an autosomal recessively inherited inflammatory disease that primarily affects Jews, Armenians, Turks, and Arabs. It is characterised by recurrent self limited attacks of fever accompanied by inflammation of the peritoneum, synovium, and pleura. The gene responsible for FMF (MEFV) has been cloned recently on the short arm of chromosome 16 and more than 20 m...
SIR, Familial Mediterranean fever (FMF) is a genetic disease with autosomal recessive transmission, occuring mainly in Middle-Eastern and eastern Mediterranean populations. Haplotype and mutation analysis has helped us trace the origins of this disease to the Fertile Crescent, located in the eastern Mediterranean [1]. Another rheumatological disease that is common in this area is Behçet’s disea...
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...
Methods 113 caucasian patients carrying MEFV mutations (46 with mutations in two alleles, 67 heterozygous) and 205 genetically negative patients for MEFV, TNFSF1A and MEFV (70% with a PFAPA phenotype) were analyzed. The following groups were considerd: patients with: i) 2 high penetrance mutations (M694V, M694I, M680I), ii) 1 high, 1 low penetrance mutation, iii) 2 low penetrance mutations, iv)...
Introduction FMF is considered an autosomal recessive autoinflammatory syndrome caused by single gene (MEFV) mutations. Recently, it has been known that also heterozygous mutation carriers can suffer from a mild or incomplete form of FMF, named FMF-like disease. Among Armenians, who have relatively high carrier rate of MEFV mutations, single mutation has been detected in about 1/5 of symptomati...
BACKGROUND Although familial Mediterranean fever (FMF) was originally defined as an autosomal recessive disorder, approximately 10-20% of FMF patients do not carry any FMF gene (MEFV) mutations. Fine phenotype characterization may facilitate the elucidation of the genetic background of the so called "FMF without MEFV mutations". In this study we clinically and demographically characterize this ...
Background & objective: FMF is an autosomal recessive genetic disorder characterized by acute episodes of fever accompanied by severe abdominal pain, pleurisy, arthritis, and skin rashes. Clinical symptoms of the disease vary considerably in patients, and little is known about the origin of this variation. This study investigates a male patient suffering from severe FMF and his parents. Materia...
BACKGROUND/AIM Sensitive and cost-effective detection of point mutations is important in genetics research. Denaturing high-performance liquid chromatography (DHPLC) is known to be one of the most sensitive techniques for point mutation detection. A more recent technique, high-resolution melting (HRM), is based on the melting behavior of PCR products. In this study, the efficiency and sensitivi...
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