نتایج جستجو برای: mediterranean mutation

تعداد نتایج: 329041  

2002
T. AKPOLAT E. YILMAZ I. AKPOLAT M. DILEK F. KARAGOZ B. BALCI S. OZEN

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...

Journal: :Clinical genetics 2013
F S Ong H Vakil Y Xue J Z Kuo K H Shah R B Lee K E Bernstein D L Rimoin T Getzug K Das J L Deignan J I Rotter W W Grody

Familial Mediterranean fever (FMF), inherited in an autosomal recessive manner, is a systemic auto-inflammatory disorder characterized by recurrent attacks of fever with peritonitis, pleuritis, synovitis and erysipeloid rash. The marenostrin-encoding fever (MEFV) gene, located on chromosome 16p13.3, is the only gene in which mutations are currently known to cause FMF. To correlate specific geno...

2013
Sevket Ozkaya Saliha E. Butun Serhat Findik Atilla Atici Adem Dirican

The familial Mediterranean fever (FMF), also called recurrent polyserositis, is characterized by reccurrent episodes of serositis at pleura, peritoneum, and synovial membrane and fever. We present a patient with recurrent bilateral pleural effusion due to serositis attacks as a first sign of FMF. A 59-year-old Turkish man suffered from recurrent pleuritic chest pain due to pleural effusion and ...

Journal: :Journal of medical genetics 1999
G Loudianos V Dessi M Lovicu A Angius B Altuntas R Giacchino M Marazzi M Marcellini M R Sartorelli G C Sturniolo N Kocak A Yuce N Akar M Pirastu A Cao

In this study, we report further results of mutation analysis of the ATP7B gene in Wilson disease (WD) patients of Mediterranean origin. A total of 136 WD chromosomes, 73 of which were of Italian, 43 of Turkish, 18 of Sardinian, and two of Spanish origin, were analysed and the mutation characterised in 84.5% of them. We found 50 different mutations of which 19 are novel, including three nonsens...

2015
K Barut N Canpolat A Adrovic R Cicek AB Sinoplu E Arslan O Kasapcopur

Introduction Familial Mediterranean Fever (FMF) represents an autoinflammatory disease caused be MEFV gene mutation characterized with attacks of polyserositis, commonly seen among Turks, Arabs, Armenians and Jews. Therapy with colchicine was proven to be effective in treatment of FMF polyserositis and in prevention of amyloidosis development. Colchicine resistant FMF is defined as 6 or more at...

2012
Aylin Köseler Ayfer Atalay Erol Ömer Atalay

Heterozygous beta-thalassemia (β-thal) carriers are characterized by microcytosis, hypochromia, and elevated HbA2 levels (≥3.5%) [1]. Although an elevated HbA2 level is a diagnostic parameter for β-thal, the interaction between d-globin gene mutation and β-thal can result in a normal HbA2 level, leading to misdiagnosis [2]. As δ-thalassemia (δ-thal) has no clinical significance, a reduced HbA2 ...

Journal: :Croatian medical journal 2005
Smiljana Ristić Nada Starcević Cizmarević Bojana Brajenović-Milić Marija Crnić-Martinović Miljenko Kapović

A 32-basepair deletion polymorphism in the CCR5 chemokine receptor gene (CCR5 TROKUT 32) could increase the resistance to HIV-1 infection or delayed progression to AIDS. This mutant allele is common among Caucasians of Western European descent, but has not been observed in people of African or Asian ancestry. Genetic studies provided in European countries have shown a highest prevalence in Nord...

2015
Ali Şahin Savaş Karakuş Yunus Durmaz Çağlar Yıldız Hüseyin Aydın Ahmet Kıvanç Cengiz Duygu Güler

Objective. To investigate ovarian reserves in attack-free familial Mediterranean fever (AF-FMF) patients at the reproductive age by anti-Müllerian hormone (AMH), antral follicle count (AFC), ovarian volume, and hormonal parameters. Methods. Thirty-three AF-FMF patients aging 18-45 years and 34 healthy women were enrolled and FSH, LH, E2, PRL, and AMH levels were measured in the morning blood sa...

2012
Sónia Gomes Paula Martins-Lopes Henrique Guedes-Pinto

The olive is one of the most ancient cultivated fruit trees. Olive cultivation has a very long history which started from the Third Millennium BC (Loukas & Krimbas, 1983) in the Eastern region of the Mediterranean sea and spread later around the basin following land and maritime routes to Italy, Spain, North Africa and France. Nowadays there are about 805 million of olive trees, 98% of which ar...

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