نتایج جستجو برای: mefv mutation

تعداد نتایج: 292011  

Journal: :iranian journal of medical sciences 0
farhad salehzadeh departments of pediatrics, bouali hospital, ardabil university of medical sciences, ardabil, iran mehdi jafari asl departments of pediatrics, bouali hospital, ardabil university of medical sciences, ardabil, iran saeid hosseini asl molecular-genetic laboratory, imam khomeini hospital, ardabil university of medical sciences, ardabil, iran sepideh jahangiri departments of pediatrics, bouali hospital, ardabil university of medical sciences, ardabil, iran shahram habibzadeh department of infectious diseases, bouali hospital, ardabil university of medical sciences, ardabil, iran

familial mediterranean fever (fmf) is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen around the mediterranean sea. it is characterized by recurrent episodes of fever and polyserositis and rash. recently, mefv gene analysis determines the definitive diagnosis of fmf. in this study, we analyzed 12 mefv gene mutations in more than 200 fmf patients, pr...

2015
Ziyan Wu Shulan Zhang Jing Li Si Chen Ping Li Fei Sun Xiaoting Wen Wenjie Zheng Fengchun Zhang Yongzhe Li Graham R. Wallace

OBJECTIVE Several studies have identified an association between Behçet's disease (BD) and mutations in the Mediterranean fever (MEFV) gene, which was originally linked to the autosomal recessive disease, Familial Mediterranean fever. However, no consensus has been reached. Here, a meta-analysis was conducted on published data to comprehensively evaluate this relationship. METHODS Literature ...

2010
Ebru Etem Sukriye Derya Deveci Deniz Erol Huseyin Yuce Halit Elyas

Familial Mediterranean Fever (FMF) is an autoinflammatory periodic disorder. We aim to identify the distribution and the frequency of the Mediterranean Fever (MEFV) gene mutations in the east of Anatolia in Turkey and perform a genotype/phenotype correlation in the patients' cohort. The study was carried out on 415 clinically diagnosed Turkish FMF patients and 103 healthy controls. The tested i...

2016
Morteza BONYADI Gholamreza NIAEI Reza ABDOLMOHAMMADI

Familial Mediterranean fever (FMF), the most frequent of the periodic fever syndromes, is an auto-somal recessive disease, predominantly affecting people of Mediterranean descent, although recently it has been described in many other populations (1-3). Linkage between the gene responsible for FMF (MEFV) and the short arm of chromosome 16 was first shown in 1992. Mediterranean Fever (MEFV) gene ...

Journal: :Internal medicine 2003
Ken-ichi Yoshida Shigeru Kanaoka Masayoshi Kajimura Hideki Kataoka Kenichiro Takahira Satoshi Osawa Munetaka Sano Akira Hishida

We describe a 17-year-old woman with a family history of FMF who suffered from recurrent fever accompanied by pains in the left chest and abdomen. During a five-year period she experienced attacks about once every six months. The metaraminol provocative test was positive. Genomic DNA extracted from peripheral blood lymphocytes from both her and her parents were analyzed by polymerase chain reac...

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: :Rheumatology 2007
Y Shinar I Kuchuk S Menasherow M Kolet M Lidar P Langevitz A Livneh

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...

Journal: :European journal of medical genetics 2006
Hanadi Mattit Muhidin Joma Salwa Al-Cheikh Mohammed El-Khateeb Myrna Medlej-Hashim Nabiha Salem Valérie Delague André Mégarbané

BACKGROUND Familial Mediterranean fever (FMF) is an autosomal recessive disease mainly affecting particularly Arabs, Non-Ashkenazi Jews, Armenians, and Turks. It is an autoinflammatory periodic disorder characterized by febrile and painful attacks due to inflammation involving the serosal membranes in the abdomen, chest or joints. Over 50 mutations have been identified in the MEFV gene responsi...

Journal: :Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2002
Catherine Dodé Bouke P C Hazenberg Christophe Pêcheux Daniel Cattan Bruno Moulin Anne Barthélémy Marie-Claire Gubler Marc Delpech Gilles Grateau

BACKGROUND Among hereditary fevers characterized by recurrent attacks of fever and organ localized inflammation, familial Mediterranean fever (FMF), and tumour necrosis factor receptor superfamily 1A (TNFRSF1A) receptor associated periodic syndrome (TRAPS) are diseases with identified genes that can be associated with renal amyloidosis of the AA type. In this study we have characterized FMF and...

2015
Morteza Jabbarpour Bonyadi Sousan Mir Najd Gerami Mohammad Hossein Somi Saeed Dastgiri

OBJECTIVES 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 Iranian...

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