×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.17711558 2008
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
GeneticVariation
CLINVAR
The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production.
16785446 2006
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
GeneticVariation
CLINVAR
MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.
17276496 2007
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
GeneticVariation
CLINVAR
Over 50 MEditerranean FeVer (MEFV) mutations and polymorphisms have been identified in FMF patients.
17566872 2008
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations.
14578331 2003
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
Clinical and molecular diagnosis of Familial Mediterranean Fever in Egyptian children.
17592559 2007
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study.
12401847 2002
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
GeneticVariation
CLINVAR
An unexpectedly high frequency of MEFV mutations in patients with anti-citrullinated protein antibody-negative palindromic rheumatism.
17665427 2007
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients.
16255051 2005
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
GeneticVariation
CLINVAR
Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance.
17938136 2007
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
Defect of suppression of inflammasome-independent interleukin-8 secretion from SW982 synovial sarcoma cells by familial Mediterranean fever-derived pyrin mutations.
24318677 2014
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
An improved electronic microarray-based diagnostic assay for identification of MEFV mutations.
15146467 2004
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes.
16234278 2006
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
GeneticVariation
CLINVAR
Genetic screening of familial Mediterranean fever mutations in the Palestinian population.
15951859 2005
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series.
15942916 2005
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
GeneticVariation
CLINVAR
We have analyzed intragenic MEFV SNPs in Spanish and Chueta (descendants of converted Jews) FMF patients and controls, and this constitutes the first systematic survey of normal MEFV SNP haplotype structure and variability.
15024744 2004
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
Multiplex molecular diagnosis of MEFV mutations in patients with familial Mediterranean fever by LightCycler real-time PCR.
16120953 2005
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
GeneticVariation
CLINVAR
Defect of suppression of inflammasome-independent interleukin-8 secretion from SW982 synovial sarcoma cells by familial Mediterranean fever-derived pyrin mutations.
24318677 2014
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
GeneticVariation
CLINVAR
[Familial Mediterranean Fever (FMF): from diagnosis to treatment].
15745878 2005
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
GeneticVariation
CLINVAR
Increased prevalence of MEFV exon 10 variants in Japanese patients with adult-onset Still's disease.
25286988 2015
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
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
CausalMutation
CLINVAR
Here, we report a Japanese female FMF patient with heterozygosity for the compound pyrin E148Q/M694I showing recurrent fever, serositis or delay in skin wound healing.
15805719 2005
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
CausalMutation
CLINVAR
Genetic screening of familial Mediterranean fever mutations in the Palestinian population.
15951859 2005
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Familial Mediterranean Fever
1.000
GeneticVariation
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 (FMF ) is an autosomal recessive disorder caused by mutations in the Mediterranean fever gene (MEFV).11470495 2001