Does having MEFV gene sequence variants affect the clinical course and colchicine response in children with PFAPA syndrome? [PDF]
Eur J Pediatr, 2023 Otar Yener G +3 more
europepmc +1 more source
Familial Mediterranean Fever (MEFV) Gene-related Enteritis
Nippon Daicho Komonbyo Gakkai Zasshi, 2021 Noriyuki Horiki +5 more
openaire +2 more sources
İn vivo methylation studies of MEFV gene
, 2021 MEFV geni ilk olarak serozal iltihaplanma ve karın ağrısı ile ilerleyen Ailevi Akdeniz Ateşi (AAA) hastalığıyla ilişkili gen olarak karakterize edilmiştir. En sık gözlenen MEFV mutasyonları E148Q, M680I, M694V, M694I ve V726A olup hastalıkla ilgili kromozomların %70'ini oluştururlar.
openaire +1 more source
A large pericardial effusion and bilateral pleural effusions as the initial manifestations of Familial Mediterranean Fever [PDF]
, 2015 Familial Mediterranean Fever (FMF) is a condition characterized by recurrent febrile poly-serositis. Typical presentations of the disease include episodes of fever, abdominal pain and joint pains. Chest pain is a less common presentation.
Cassar Demarco, Daniela +4 more
core
PFAPA syndrome is not a sporadic disease [PDF]
, 2017 Objectives. To determine whether PFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) patients have a positive family history (FH) for recurrent fever syndromes. Method.
Clet, Johanna +7 more
core
Colchicine versus cimetidine: the better choice for Periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome prophylaxis, and the role of MEFV gene mutations. [PDF]
Pediatr Rheumatol Online J, 2022 Raeeskarami SR +5 more
europepmc +1 more source
Geographical Distribution of the Most Frequent Mutations of Familial Mediterranean fever in the World [PDF]
Taṣvīr-i salāmat, 2016 Background and objectives: Familial Mediterranean Fever (FMF) is an autosomal recessive disease. Generally, the Mediterranean basin is the region where the first cases of FMF have been identified. The gene responsible for FMF is gene MEFV.
Soraya Hadi +3 more
doaj
Next-Generation Sequencing Analysis of MVK, NLRP3, TNFRSF1A, and PSTPIP1 Genes in Patients without MEFV Gene Variation and Genotype-Phenotype Correlation. [PDF]
Eur J Rheumatol, 2022 Vuran G, Berdeli A.
europepmc +1 more source
Novel NLRP3/cryopyrin mutations and pro-inflammatory cytokine profiles in Behçet's syndrome patients [PDF]
, 2017 The role of mutations in NLRP3 in inflammatory features of Behçet's ...
Akdiş, Cezmi +8 more
core
Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings. [PDF]
Mol Biol Rep, 2021 Arpacı A +4 more
europepmc +1 more source