×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments.
11468188 2001
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
Familial Mediterranean fever: genotype-phenotype correlations in Japanese patients.
24797171 2014
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
The aim of this study was to analyze the spectrum of MEFV alterations in FMF patients and healthy individuals in Greece.
17489852 2007
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
Familial Mediterranean fever: the segregation of four different mutations in 13 individuals from one inbred family: genotype-phenotype correlation and intrafamilial variability.
11977178 2002
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey.
24469716 2014
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
GeneticVariation
CLINVAR
Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients.
25393764 2015
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
GeneticVariation
CLINVAR
The spectrum of Familial Mediterranean Fever (FMF) mutations.
11464238 2001
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
The spectrum of Familial Mediterranean Fever (FMF) mutations.
11464238 2001
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
The genetic basis of autosomal dominant familial Mediterranean fever.
10787449 2000
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
The present study reports the frequencies of MEFV mutations in 558 Lebanese and 55 Jordanian FMF patients and points out the severity of the M694V frequently observed mutation among these patients.
16378925 2006
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
Familial mediterranean Fever: a retrospective clinical and molecular study in the East of anatolia region of Turkey.
20177433 2010
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
GeneticVariation
CLINVAR
Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease.
23633568 2013
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.
10234504 1999
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever.
25648235 2015
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
Based on a recent molecular analysis of MEFV gene mutations in 43 patients from Crete aiming to correlate specific genotypes and clinical manifestations of FMF , we were prompted to construct a three-dimensional model (3-D model) of the PRYSPRY domain of pyrin .
16730661 2006
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
Among the 23 patients with classical or probable FMF , 17 were homozygotes or compound heterozygotes for pyrin /marenostrin mutations, and in five, only single allele mutations were identified.
10024914 1998
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
The MEFV mutations and their clinical correlations in children with familial Mediterranean fever in southeast Turkey.
24071932 2014
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
Common MEFV gene mutations in Turkish patients with Behcet's disease.
23973724 2013
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
GeneticVariation
CLINVAR
Renal amyloidosis due to familial mediterranean fever misdiagnosed.
23716950 2012
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
Familial Mediterranean fever diagnosed by PCR.
10879615 2000
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
GeneticVariation
CLINVAR
The demonstration of both the diagnostic and prognostic value of MEFV analysis and particular modes of inheritance should lead to new ways for management of FMF -including genetic counseling and therapeutic decisions in affected families.
10364520 1999
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
GeneticVariation
CLINVAR
We have evaluated seven MEFV mutations in 460 chromosomes of 230 unrelated patients with FMF living in Turkey, using PCR methods.
10612841 2000
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
The spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T).
25703702 2015
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
We have evaluated seven MEFV mutations in 460 chromosomes of 230 unrelated patients with FMF living in Turkey, using PCR methods.
10612841 2000
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study.
15643295 2005