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Clinical significance of MEFV gene variation R202Q

Clinical Rheumatology, 2021
The aim of this study was to evaluate the phenotypic features and the clinical significance of the R202Q mutation of the MEFV gene.We retrospectively reviewed the medical records of Familial Mediterranean Fever patients with M694V/- and M694V/R202Q mutations.
Kandur, Yasar   +3 more
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MEFV Gene Mutations in a Patient with Eosinophilic Gastroenteritis

Southern Medical Journal, 2010
Eosinophilic gastroenteritis (EG) is an uncommon gastrointestinal disease affecting both children and adults. The underlying molecular mechanism predisposing to the clinical manifestation of eosinophilic gastroenteritis is unknown. A 39-year-old man who was followed up with the diagnosis of familial Mediterranean fever (FMF) was admitted to our clinic ...
Gulay, Kocak   +6 more
openaire   +2 more sources

MEFV gene variations in patients with systemic lupus erythematosus

Modern Rheumatology, 2013
OBJECTIVE: The aim of this study was to investigate the frequency of familial Mediterranean fever (FMF)-associated MEFV gene variations in patients with systemic lupus erythematosus (SLE). METHODS: The study group comprised 190 SLE patients and 101 healthy controls of Turkish origin with no ...
Burak, Erer   +6 more
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MEFV gene mutations in Henoch–Schönlein purpura

International Journal of Rheumatic Diseases, 2013
AbstractAimCoexistence of familial Mediterranean fever (FMF) with various systemic vasculitides, including Henoch–Schönlein purpura (HSP) and other inflammatory disorders has been reported and the MEFV gene has been suggested to play an important role in the pathogenesis of this association.
Altug, Umut   +3 more
openaire   +3 more sources

MEFV gene mutations in Turkish children with juvenile idiopathic arthritis

European Journal of Pediatrics, 2013
Mutations of the Mediterranean fever (MEFV) gene, which encodes pyrin protein, leads to familial Mediterranean fever (FMF) and a connection between MEFV mutations and rheumatic diseases has been suggested. The aim of this study was to explore the frequency and clinical significance of MEFV mutations in children with juvenile idiopathic arthritis (JIA).
Elif, Comak   +5 more
openaire   +2 more sources

Common MEFV gene mutations in Turkish patients with Behcet's disease

Gene, 2013
Behcet's disease (BD) is a chronic systemic inflammatory disorder whose etiology has not been fully established yet. The MEditerranean FeVer (MEFV) gene has been identified as the cause of Familial Mediterranean Fever (FMF). BD shows similarities with FMF, in terms of clinical findings and treatments, as well as their geographical and ethnic co ...
Turker, Tasliyurt   +4 more
openaire   +2 more sources

MEFV gene mutation detection in Arab patients

Qatar Foundation Annual Research Forum Volume 2013 Issue 1, 2013
MEFV Gene Mutation Detection In Arabic Patients With Familial Mediterranean Fever Rowaida Taha1, Suheil Ayesh2, Abdulghani Kohilan1, Vasiliki Chini1, Marios Kambouris 1,3, Hatem El-Shanti 1,4 1Shafallah Medical Genetics Center, Doha, Qatar, 2Gene Medical Labs, Gaza, Palestinian Territory, 3Yale University School of Medicine, Genetics, New Haven CT, USA,
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Prevalence of the MEFV Gene Mutations in Childhood Polyarteritis Nodosa

The Journal of Pediatrics, 2007
To test the hypothesis that alterations in the Mediterranean fever (MEFV) gene are a susceptibility factor for the development of polyarteritis nodosa (PAN) we investigated the prevalence of MEFV mutations in patients with PAN without any symptoms of familial Mediterranean fever (FMF).Pediatric patients with PAN (n = 29) were enrolled in this study ...
Fatoş, Yalçinkaya   +8 more
openaire   +2 more sources

PAPASH syndrome with MEFV gene mutation

Medicina Clínica (English Edition), 2021
Juan, Monte Serrano   +3 more
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The rate of MEFV gene mutations in hematolymphoid neoplasms

International Journal of Immunogenetics, 2010
SummaryThe aim of this study was to determine the rate of MEFV gene mutations, the gene responsible for familial Mediterranean fever (FMF), in patients with hematolymphoid neoplasm. The rate of the five most common MEFV gene mutations (M694V, M680I, V726A, M694I and E148Q) was determined in 46 patients with hematolymphoid neoplasm.
S, Celik   +9 more
openaire   +2 more sources

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