Results 41 to 50 of about 2,516,978 (116)

In Vivo Methylation Studies Of Mefv Gene [PDF]

, 2008
Tez (Yüksek Lisans) -- İstanbul Teknik Üniversitesi, Fen Bilimleri Enstitüsü, 2008Thesis (M.Sc.) -- İstanbul Technical University, Institute of Science and Technology, 2008MEFV geni ilk olarak serozal iltihaplanma ve karın ağrısı ile ilerleyen Ailevi ...
Karaca, Esra
core  

MEFV gene allele frequency and genotype distribution in 3230 patients' analyses by next generation sequencing methods

, 1995
Familial Mediterranean Fever (FMF, OMIM ID: 249100) is the most common autoinflammatory, autosomal recessive disease caused by mutations in the MEFV gene. It is widespread in the Mediterranean, primarily among Turkish, Armenian, Arab and Jewish.
Bilgi, Sibel, Kirnaz, Berkay, Gezgin, Yuksel, Berdeli, Afig   +3 more
core   +1 more source

MEFV gene exon 2 and exon 10 gene region mutations of familial mediterranean fever patients in Trakya population

, 2010
Amaç: Çalışmamızın amacı Trakya populasyonunda Ailevi Akdeniz Ateşi etyopatogenezinde yer alan MEFV geni ekson 2 ve ekson 10 gen bölgesi mutasyonlarının otomatize DNA dizi analizi metodu ile araştırılarak elde edilen sonuçların literatürdeki diğer ...
Gürkan, Hakan, Algüneş, Çetin, Özkayın, Neşe Emine, Tabakçıoğlu, Kıymet   +3 more
core   +3 more sources

Mediterranean fever gene variants may prevent the development of lupus nephritis in Japanese patients with systemic lupus erythematosus

Frontiers in Immunology
BackgroundSystemic lupus erythematosus (SLE) is an autoimmune disease characterized by loss of immune tolerance, leading to systemic inflammation and organ damage. The Mediterranean fever (MEFV) gene, primarily linked to familial Mediterranean fever (FMF)
Yushiro Endo, Tomohiro Koga, Lamiaa Mohamed, Yoshika Tsuji, Masataka Umeda, Hiroko Hayashi, Tatsuya Kishino, Atsushi Kawakami   +7 more
doaj   +1 more source

Unusual presentation of familial Mediterranean fever with co‐existing polyarteritis nodosa and acute post‐streptococcal glomerulonephritis

Clinical Case Reports, 2022
Acute post‐streptococcal glomerulonephritis (APSGN) and polyarteritis nodosa (PAN) may occur simultaneously after streptococcal infection in a child who is previously healthy but carries a Mediterranean fever (MEFV) mutation.
Yeşim Özdemir Atikel, Betül Emine Derinkuyu, Sevcan A. Bakkaloğlu   +2 more
doaj   +1 more source

Molecular Diagnosis Experience in Familial Mediterranean Fever: The Most Frequent Mutations in the MEFV Gene

, 2018
Aim: Familial Mediterranean Fever (FMF) is the most frequent and historically the oldest autosomal recessive autoinflammatory disorder. No pathogen or auto-antibody has been shown to be associated with FMF.
Ayla Özvarnalı, Ahmet Gül, Derya Öztürk, Ozturk, Sukru, Gül, Ahmet, Palanduz, Sukru, Kıvanç Çefle, Ayşe Palanduz, Cefle, Kıvanç, Palanduz, Ayse, Ender Coşkunpınar, Şükrü Öztürk, Ozvarnali, Ayla, Coskunpinar, Ender, Ozturk, Derya, Şükrü Palanduz   +15 more
core   +1 more source

Long‐term echocardiographic findings in patients with idiopathic recurrent pericarditis treated with anakinra

Internal Medicine Journal, Volume 56, Issue 6, Page 1043-1050, June 2026.
Abstract Aim Idiopathic recurrent pericarditis (IRP) is considered an autoinflammatory disease, and interleukin 1 inhibitors, such as anakinra, are used to treat resistant cases. Constrictive pericarditis, a feared complication, continues to be a critical concern. In the biologic era, evidence on long‐term transthoracic echocardiographic (TTE) findings
Zeynep Toker Dincer, Damla Raimoglou, Erkin Yilmaz, Ayten Dag, Melike Melikoglu, Serdal Ugurlu   +5 more
wiley   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 849-861, May 2026.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Familial Mediterranean fever in Armenian children with inflammatory bowel disease

Frontiers in Pediatrics
Inflammatory bowel disease (IBD) and familial Mediterranean fever (FMF) are inflammatory diseases with complex interactions among genetic, immune, and environmental factors.
Gayane Amaryan, Gayane Amaryan, Tamara Sarkisian, Tamara Sarkisian, Artashes Tadevosyan, Christian Braegger   +5 more
doaj   +1 more source