نتایج جستجو برای: ژن mefv
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Purpose: Familial Mediterranean Fever (FMF) is a hereditary auto inflammatory disease (MIM#249100). The most common symptoms are high fever, abdominal pain and arthralgia. FMF the result of variations in MEditerraneanFeVer (MEFV) gene, which located on chromosome 16p13.3, consists 10 exons encodes pyrin (marenostrin) protein. frequency MEFV gene variants that cause varies according to ethnic gr...
Introduction Marshall Syndrome or PFAPA is an inflammatory periodic disease characterized by periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis. Restless, headache, abdominal pain, vomiting, hepatosplenomegaly and arthralgia are less common symptoms seeing in this disease. The diagnosis is established on the basis of clinical criteria that require the presence of a recurrent...
Introduction Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder due to MEFV mutations and one of the most frequent Mediterranean genetic diseases. The observation of many heterozygous patients in whom a second mutated allele was excluded led to propose that heterozygosity could be causal; however, this might often be coincidental due to the very high rate of ...
Familial Mediterranean Fever, the most common autoinflammatory disease, is inherited in an autosomal recessive pattern. During the recent years, a new phenotype has been described concerning heterozygous carriers of Mediterranean Fever (MEFV) mutations that express typical clinical features of Familial Mediterranean Fever (FMF). This new pattern of genotype-phenotype correlation is called “FMF-...
Methods A total of 93 consecutive patients with a clinical history of periodic fever were screened for mutations in the MVK, TNFRSF1A, and MEFV genes, and detailed clinical information was collected prospectively. For autosomalrecessive diseases (MKD and FMF), only homozygous or compound heterozygous patients were accepted as genetically positive. The developed diagnostic score was validated in...
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