نتایج جستجو برای: m694v

تعداد نتایج: 202  

2015
Morteza Jabbarpour Bonyadi Mohammad Hossein Somi Mir Milad Pourmousavi Khoshknab Forough Eslami Mehrdad Montazam Sousan Mir Najd Gerami

OBJECTIVES Familial Mediterranean fever (FMF), an inherited autosomal recessive disorder, is frequently present among individuals of Mediterranean origin. Differences in the clinical manifestations of FMF between different ethnic groups have been documented. The aim of the present study was to determine the most common characteristics of FMF and the relationship between clinical findings and th...

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...

Journal: :cell journal 0

objective: familial mediterranean fever (fmf) is an autosomal recessive disorder characterized by recurrent febrile attacks accompanied by serosal and synovial membrane inflammation. fmf is caused by mutations in the mefv gene and are found usually among mediterranean populations, armenians, turks, arabs and jews. the aim of this study was to determine the frequency of mefv gene mutations among...

2014
Farhad Salehzadeh Maryam Vahedi Saeid Hosseini-Asl Sepideh Jahangiri Shahram Habibzadeh Mahsa Hosseini-Khotbesara

OBJECTIVE Marshall Syndrome or PFAPA is an inflammatory periodic disease characterized by periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis. Although PFAPA is an auto inflammatory disease, it doesn't have genetic basis such as other periodic fevers. This study evaluates the 12 common MEFV gene mutations in patients with PFAPA syndrome. METHODS 21 patients with PFAPA syndr...

2013
Yusuf Savran Ismail Sari Didem Leyla Kozaci Necati Gunay Fatos Onen Servet Akar

OBJECTIVE To determine the level of macrophage migration inhibitory factor (MIF), its relationship with Mediterranean fever (MEFV) gene mutations and oxidative stress in familial Mediterranean fever (FMF). METHODS Fifty one unrelated attack free FMF patients (24 M and 27 F, 32.8±8.7 years) and 30 healthy controls (16 M and 14 F, 32.7±7 years) were included in the study. Serum MIF, total oxida...

2012
Serbulent Yigit Ahmet Inanir Nevin Karakus Esra Kesici Nihan Bozkurt

Ankylosing spondylitis (AS) is a common inflammatory rheumatic disease. Mediterranean fever (MEFV) gene, which has already been identified as being responsible for familial Mediterranean fever (FMF), is also a suspicious gene for AS because of the clinical association of these two diseases. The aim of this study was to explore the frequency and clinical significance of MEFV gene mutations (M694...

ژورنال: :فصلنامه علوم پزشکی دانشگاه آزاد اسلامی واحد پزشکی تهران 0
سیدرضا محبی seyed reza mohebbi researcher, phd of virology, research center for gastroenterology and liver diseases, taleghani hospital, shaheed beheshti university (m. c.), tehran, iran.پژوهشگر، دکترای ویروس شناسی، مرکز تحقیقات گوارش و کبد، بیمارستان طالقانی، دانشگاه علوم پزشکی شهید بهشتی مهدی منتظرحقیقی mehdi montazer haghighi researcher, phd student of molecular genetics, research center for gastroenterology and liver diseases, taleghani hospital, shaheed beheshti university (m. c.), tehran, iranپژوهشگر، دانشجوی دکترای ژنتیک مولکولی، مرکز تحقیقات گوارش و کبد، بیمارستان طالقانی، دانشگاه علوم پزشکی شهید بهشتی بهزاد دماوند behzad damavand researcher, bsc of molecular biology, research center for gastroenterology and liver diseases, taleghani hospital, shaheed beheshti university (m. c.), tehran, iran.پژوهشگر، کارشناس زیست شناسی سلولی و مولکولی، مرکز تحقیقات گوارش و کبد، بیمارستان طالقانی، دانشگاه علوم پزشکی شهید بهشتی سجاد مجیدی زاده بزرگی sajjad majidizadeh bozorgi researcher, bsc of molecular biology, research center for gastroenterology and liver diseases, taleghani hospital, shaheed beheshti university (m. c.), tehran, iran.استادیار، فوق تخصص بیماری های گوارش و کبد، مرکز تحقیقات گوارش و کبد، بیمارستان طالقانی، دانشگاه علوم پزشکی شهید بهشتی سیدرضا فاطمی seyed reza fatemi assistant professor, gastroenterologist, research center for gastroenterology and liver diseases, taleghani hospital, shaheed beheshti university (m. c.), tehran, iran.کارشناس میکروبیولوژی ، مرکز تحقیقات گوارش و کبد، بیمارستان طالقانی، دانشگاه علوم پزشکی شهید بهشتی علی تهامی ali tahami msc of microbiology, research center for gastroenterology and liver diseases, taleghani hospital, shaheed beheshti university (m. c.), tehran, iranپژوهشگر، کارشناس ارشد زیست شناسی سلولی و مولکولی، مرکز تحقیقات گوارش و کبد، بیمارستان طالقانی، دانشگاه علوم پزشکی شهید بهشتی پروین رستمی

سابقه و هدف: تب مدیترانه ای فامیلی (fmf) یک بیماری ارثی اتوزومال مغلوب با علایم تب های حاد خود محدودشونده و التهاب غشاء های سروزی است. ژن mefv تنها ژن مرتبط با این بیماری است که دراین مطالعه به منظور یافتن جهش های احتمالی مورد بررسی قرار گرفت. روش بررسی: در این مطالعه بنیادی، 51 فرد مبتلا به fmf که توسط پزشک به این مرکز ازجاع شده بودند، بررسی شدند. در ابتدا dna ژنومیک استخراج گردید، سپس به منظو...

2013
Leila Mohammadnejad Safar Farajnia

OBJECTIVE Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent febrile attacks accompanied by serosal and synovial membrane inflammation. FMF is caused by mutations in the MEFV gene and are found usually among Mediterranean populations, Armenians, Turks, Arabs and Jews. The aim of this study was to determine the frequency of MEFV gene mutations among ...

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