نتایج جستجو برای: mefv genotype

تعداد نتایج: 92495  

Journal: :Internal medicine 2014
Keita Fujikawa Kiyoshi Migita Akio Nagasato Toshiaki Tsukada Atsushi Kawakami Katsumi Eguchi

A 57-year-old Japanese woman who had been diagnosed as having entero-Behçet's disease nine years earlier was admitted with a persistent high-grade fever. An Mediterranean fever (MEFV) gene analysis revealed the compound heterozygous P369S-R408Q variant. She was treated with colchicine, and her symptoms immediately improved. Prednisolone (PSL) was added to treat the punched-out ulcers in the ter...

2015
D Ait-Idir F Bouldjennet R Taha H El-Shanti B Djerdjouri

Introduction The familial Mediterranean fever (FMF, OMIM 249100) is an autosomal recessive auto-inflammatory disease primarily occuring in Armenian, Turkish, Jewish and Arabic populations. The first clinical symptoms of FMF usually appear in childhood. The chronic relapsing inflammation of the serous membranes leads to febrile attacks often associated with abdominal, joint and/or chest pains. T...

Journal: :reports of biochemistry and molecular biology 0
mahmoud haghighat gastroenterohepatology research center, shiraz university of medical sciences, shiraz, iran - department of pediatrics, shiraz university of medical sciences, shiraz, iran. mozhgan moghtaderi allergy research center, shiraz university of medical sciences, shiraz, iran. shirin farjadian fax: +98 71 32351575;

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 ...

Journal: :Pediatrics 1999
R Brik M Shinawi I Kepten M Berant R Gershoni-Baruch

OBJECTIVE Familial Mediterranean fever (FMF) is an autosomal recessive hereditary disease which primarily affects non-Ashkenazi Jews, Armenians, Arabs, and Turks. The gene responsible for the disease (MEFV/FMF) has been recently identified. Four common mutations in exon 10 of the MEFV gene seem to account for 86% of the DNA variations identified in patients with FMF. We conducted a phenotype/ge...

2013
F Salehzadeh M Jafariasl S Jahangiri S Hosseiniasl

Journal: :European journal of medical genetics 2005
Myrna Medlej-Hashim Jean-Louis Serre Sandra Corbani Odile Saab Nadine Jalkh Valérie Delague Eliane Chouery Nabiha Salem Jacques Loiselet Gérard Lefranc André Mégarbané

Familial Mediterranean fever (FMF) is an autosomal recessive disease mostly frequent in Mediterranean populations. Over 50 mutations have been identified in the gene responsible for the disease, MEFV. The present study reports the frequencies of MEFV mutations in 558 Lebanese and 55 Jordanian FMF patients and points out the severity of the M694V frequently observed mutation among these patients...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه گیلان - دانشکده علوم پایه 1391

تب مدیترانه ای فامیلی(familial mediterranean fever) شایعترین نوع از سندرمهای تب های دوره ای ارثی است که توارث اتوزومال مغلوب داشته و مشخصه کلاسیک آن شامل دوره های خود محدود شونده تب و پلی سروزیت است. ژن مسئول این بیماری mefv بروی بازوی کوتاه کروموزوم 16، دارای 10 اگزون، تولید کننده پروتئینی 781 آمینواسیدی به نام پیرین می باشد. تاکنون بیش از 180 جهش در ارتباط با این بیماری شناخته شده است، که 3 ج...

Journal: :iranian journal of basic medical sciences 0
morteza jabbarpour bonyadi faculty of natural sciences, center of excellence for biodiversity, university of tabriz, tabriz, iran sousan mir najd gerami gastrointestinal and liver disease research center, tabriz university of medical sciences, tabriz, iran mohammad hossein somi gastrointestinal and liver disease research center, tabriz university of medical sciences, tabriz, iran saeed dastgiri hematology and oncology research center , tabriz university of medical sciences, tabriz, iran

objective(s):familial mediterranean fever (fmf) is an autosomal recessive disorder characterized by recurrent episodes of fever accompanied by peritonitis, pleurisy, and arthritis. fmf affects mainly mediterranean populations and is caused by mutations in the familial mediterranean fever (mefv) gene. the aim of this study was to identify the frequency and distribution of mefv mutations in irani...

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