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Clinical significance of MEFV gene variation R202Q
Clinical Rheumatology, 2021The 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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Familial Mediterranean Fever, Polyarteritis Nodosa and Mefv Mutations
Turkish Nephrology Dialysis Transplantation, 2013COnCluSiOn: Since M694V is accepted to be associated with more severe inflammation as compared to other mutations, one can speculate that this enhanced inflammation may predispose to PAN and MEFV mutations and probably contribute to the risk of developing PAN in areas where FMF is endemic.
Akpolat T., Özkaya O., Özen S.
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Long-term follow-up of paediatric MEFV carriers
Clinical Rheumatology, 2017Although familial Mediterranean fever (FMF) is inherited autosomal recessively, some heterozygotes may express disease phenotype and require therapy. To date, there is no study in the literature about how to follow-up Mediterranean fever (MEFV) heterozygotes who do not fulfil FMF criteria in the paediatric age group.
Balahan, Makay, Nesrin, Gülez
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Clinical significance of MEFV mutations in ankylosing spondylitis
Joint Bone Spine, 2009The aim of the present study was to investigate the prevalence of MEFV gene mutations in patients with ankylosing spondylitis (AS) and to assess the clinical significance of the MEFV gene mutations in AS.Eighty AS patients and 85 healthy controls were examined for 12 common MEFV mutations via strip-assay technique.
Durmus, Dilek +5 more
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MEFV heterogeneity in Turkish Familial Mediterranean Fever patients
Molecular Biology Reports, 2009Turkey is one of the few countries in the world where Familial Mediterranean Fever (FMF), an autoinflammatory disease caused by mutations in MEFV, the gene encoding pyrin, is not rare. Many interesting studies regarding the genetics of Familial Mediterranean Fever in Turkey have been already published.
Vasileios, Papadopoulos +2 more
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Are carriers for MEFV mutations "healthy"?
Clinical and experimental rheumatology, 2006We aimed to compare whether carriers for the MEFV mutations display an increase or decrease in certain features. We compared the frequency of a number of inflammatory symptoms and diseases in carriers and a control population.A questionnaire was designed to be applied to parents of children with FMF and a control group of parents. Clinical features and
KASAPÇOPUR, Özgür +9 more
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PAPASH syndrome with MEFV gene mutation
Medicina Clínica (English Edition), 2021Juan, Monte Serrano +3 more
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MEFV Gene Mutations in a Patient with Eosinophilic Gastroenteritis
Southern Medical Journal, 2010Eosinophilic 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
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MEFV gene variations in patients with systemic lupus erythematosus
Modern Rheumatology, 2013OBJECTIVE: 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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