Genotype-phenotype associations of children with familial Mediterranean fever in a cohort consisting of M694V mutation and implications for colchicine-resistant …
H Kisaoglu, O Baba, M Kalyoncu - JCR: Journal of Clinical …, 2023 - journals.lww.com
Objectives The aim of this study was to investigate the clinical associations of the second
allele mutations and the effect of genotype and presenting features on colchicine resistance …
allele mutations and the effect of genotype and presenting features on colchicine resistance …
Genotype–phenotype associations in familial mediterranean fever: A study of 500 Egyptian pediatric patients
AE Beshlawy, AER Zekri, MS Ramadan… - Clinical …, 2022 - Springer
Abstract Introduction Familial Mediterranean fever (FMF) is the most prevalent monogenic
autoinflammatory disease, caused by recessively inherited MEFV gene mutations. The most …
autoinflammatory disease, caused by recessively inherited MEFV gene mutations. The most …
Unresponsiveness to colchicine therapy in patients with familial Mediterranean fever homozygous for the M694V mutation
O Soylemezoglu, M Arga, K Fidan, S Gonen… - The Journal of …, 2010 - jrheum.org
Objective. More than 50 disease-associated mutations of the Mediterranean fever gene
(MEFV) have been identified in familial Mediterranean fever (FMF), some of which were …
(MEFV) have been identified in familial Mediterranean fever (FMF), some of which were …
Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children
S Ozen, E Demirkaya, G Amaryan… - Annals of the …, 2014 - ard.bmj.com
Background and aim Familial Mediterranean fever (FMF) is an autoinflammatory disease
caused by mutations of the MEFV gene. We analyse the impact of ethnic, environmental and …
caused by mutations of the MEFV gene. We analyse the impact of ethnic, environmental and …
Predictors of persistent inflammation in children with familial Mediterranean fever
D Gezgin Yıldırım, P Esmeray Senol… - Modern …, 2022 - academic.oup.com
Objectives Persistent inflammation is an insidious feature of familial Mediterranean fever
(FMF) that may cause chronic complications. This study aimed to investigate the predictors …
(FMF) that may cause chronic complications. This study aimed to investigate the predictors …
[HTML][HTML] Familial Mediterranean fever: clinical and genetic characteristics among Lebanese pediatric population
S Mneimneh, A Naous, Z Naja, Z Naja, AS Naja… - Open Journal of …, 2016 - scirp.org
Objective: The aim of our study was to evaluate the clinical features, to define the frequency
of mutation type, to assess genotype-phenotype correlation and the response to colchicine …
of mutation type, to assess genotype-phenotype correlation and the response to colchicine …
Twenty-year experience of a single referral center on pediatric familial mediterranean fever: what has changed over the last decade?
RMK Ekinci, S Balci, D Dogruel… - JCR: Journal of …, 2021 - journals.lww.com
Methods This medical record review study included 714 pediatric FMF patients (340
females, 374 males), diagnosed by Tel Hashomer diagnostic criteria between January 2009 …
females, 374 males), diagnosed by Tel Hashomer diagnostic criteria between January 2009 …
Comorbidities and phenotype–genotype correlation in children with familial Mediterranean fever
Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory
disease manifesting with phenotypic heterogeneity. The phenotype–genotype correlation is …
disease manifesting with phenotypic heterogeneity. The phenotype–genotype correlation is …
Renal involvement, presence of amyloidosis, and genotype–phenotype relationship in pediatric patients with Familial Mediterranean fever: a single center study
H Bekis Bozkurt, S Yıldırım, M Ergüven - European Journal of Pediatrics, 2023 - Springer
The aim of the study is to investigate how renal involvement is correlated with frequency of
amyloidosis, risk factors, and demographic and clinical characteristics in pediatric patients …
amyloidosis, risk factors, and demographic and clinical characteristics in pediatric patients …
The clinical and genetical features of 124 children with Familial Mediterranean fever: experience of a single tertiary center
A Inal, M Yilmaz, SG Kendirli, DU Altintas… - Rheumatology …, 2009 - Springer
The aim of the present study was to evaluate the clinical features of childhood-onset Familial
Mediterranean fever (FMF) patients and to assess the phenotype–genotype correlation. The …
Mediterranean fever (FMF) patients and to assess the phenotype–genotype correlation. The …