Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings

A Arpacı, S Doğan, HF Erdoğan, Ç El… - Molecular Biology Reports, 2021 - Springer
Abstract Familial Mediterranean Fever (FMF), which is an autosomal recessive disease
characterized by recurrent self-limiting fever, peritonitis, pleuritis, arthritis and erysipelas-like …

Clinical and demographic evaluation according to MEFV genes in patients with familial Mediterranean fever

E Sönmezgöz, S Özer, A Gül, R Yılmaz, T Kasap… - Biochemical …, 2019 - Springer
The present study examined the relationship between clinical findings and mutation
analyses in children with Familial Mediterranean Fever (FMF) in the inner Black Sea region …

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

B Kırnaz, Y Gezgin, A Berdeli - Gene, 2022 - Elsevier
Abstract Familial Mediterranean Fever (FMF, OMIM ID: 249100) is the most common
autoinflammatory, autosomal recessive disease caused by mutations in the MEFV gene. It is …

[HTML][HTML] Clinical outcomes and survival in AA amyloidosis patients

Y Ayar, A Ersoy, MF Oksuz, G Ocakoglu… - Revista Brasileira de …, 2017 - SciELO Brasil
Aim Amyloid A amyloidosis is a rare complication of chronic inflammatory conditions. Most
patients with amyloid A amyloidosis present with nephropathy and it leads to renal failure …

Molecular analyses of MEFV gene mutation variants in Turkish population

R Aksoy, E Us, DF Aksoy, E Dumlupınar… - Molecular Biology …, 2024 - Springer
Abstract Background Familial Mediterranean fever (FMF) is an autosomal recessive
autoinflammatory disease primarily affecting individuals of Turkish, Armenian, Arab, and non …

Genetic aspects of idiopathic paediatric uveitis and juvenile idiopathic arthritis associated uveitis in Chinese Han

J Deng, H Tan, J Hu, G Su, Q Cao, X Huang… - British Journal of …, 2020 - bjo.bmj.com
Background Idiopathic paediatric uveitis (IPU) and juvenile idiopathic arthritis associated
uveitis (JIA-U) are the two most common entities in paediatric uveitis. This study addressed …

MEFV gene sequencing for unresolved molecular diagnosis in Egyptian familial Mediterranean fever patients; role of R202Q variant

R El Hawary, M El-Baioumy, S Meshaal, S Elanwary… - Gene Reports, 2022 - Elsevier
Abstract Background Familial Mediterranean fever (FMF) diagnosis depends mainly on
clinical criteria. The genetic diagnosis is important especially in patients without typical …

[PDF][PDF] MEFV Gene Mutations and Pathologic Gene Poly-morphism in Cases with Inflammatory Bowel Diseases

G Tumgor - Japa-nese Journal of Gstroenterology and …, 2021 - jajgastrohepto.org
Inflammatory bowel diseases (IBD) are chronic, repetitive diseases caused by regulation
defects of the mucosal immune response, which increases against the bacterial antigens in …

[PDF][PDF] Familial Mediterranean fever: Correlation between Gene Mutations and Clinical Findings at Royal Medical Services in pediatric patients

L Abasi, M Al-Amr, O Rabadi, A Al-Quraan… - Chest - rmsjournal.org
ABSTRACT Aim: Familial Mediterranean Fever (FMF) is an autosomal recessive inherited
disorder that is caused by an inflammation due to pyrin protein deficiency, encoded by the …

[HTML][HTML] Desfechos clínicos e sobrevida em pacientes com amiloidose AA

Y Ayar, A Ersoy, MF Oksuz, G Ocakoglu… - Revista Brasileira de …, 2017 - SciELO Brasil
Aim Amyloid A amyloidosis is a rare complication of chronic inflammatory conditions. Most
patients with amyloid A amyloidosis present with nephropathy and it leads to renal failure …