|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever.
|
19863562 |
2009 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
|
0.890 |
GeneticVariation
|
BEFREE |
Haplotype analysis of 376 Familial Mediterranean Fever (FMF) patients and 100 controls from Lebanon was performed using 4 microsatellite loci to study founder effects for the five most frequent mutations within the MEFV gene (M694V, M694I, V726A, M680I and E148Q).
|
17711558 |
2008 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
MEFV gene mutations spectrum among Lebanese patients referred for Familial Mediterranean Fever work-up: experience of a major tertiary care center.
|
17566872 |
2008 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
|
0.890 |
GeneticVariation
|
BEFREE |
White-blood cell count, CRP and IL-8 levels were higher in patients with FMF than in healthy subjects (p < 0.05) and also higher in M680I carriers than in the patients with M694V allele carriers.
|
18300119 |
2008 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlation in children with familial Mediterranean fever in a Turkish population.
|
18353061 |
2008 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
Comparison of the results of PCR-RFLP and reverse hybridization methods used in molecular diagnosis of FMF.
|
18307385 |
2008 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
G |
0.890 |
CausalMutation
|
CLINVAR |
Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.
|
16627024 |
2007 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production.
|
16785446 |
2006 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes.
|
16234278 |
2006 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
G |
0.890 |
CausalMutation
|
CLINVAR |
The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production.
|
16785446 |
2006 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
G |
0.890 |
CausalMutation
|
CLINVAR |
Genetic screening of familial Mediterranean fever mutations in the Palestinian population.
|
15951859 |
2005 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
Genetic screening of familial Mediterranean fever mutations in the Palestinian population.
|
15951859 |
2005 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients.
|
16255051 |
2005 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
|
0.890 |
GeneticVariation
|
BEFREE |
In this study, the frequencies of three FMF-related MEFV mutations (M694V, M680I and V726A) were investigated in FMF patients with (AA-FMF, n = 37) and without amyloidosis (non-AA-FMF, n = 35), in patients with secondary amyloidosis related to non-FMF inflammatory conditions (S-AA, n = 19) and in a non-inflammatory control group (n = 185) by molecular genetic studies using polymerase chain reaction with the ARMS (amplification refractory mutation system) method.
|
15122067 |
2004 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
|
0.890 |
GeneticVariation
|
BEFREE |
To our knowledge, this is the first association between FMF and the M680I mutation later complicated by nephrotic syndrome and fibrillary glomerulonephritis.
|
12908875 |
2003 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
G |
0.890 |
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 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
Five sequence alterations (M694V, V726A, M680I, M694I and E148Q), in the MEFV gene, account for the majority of FMF chromosomes.
|
11938447 |
2002 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population.
|
11464248 |
2001 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
G |
0.890 |
CausalMutation
|
CLINVAR |
The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments.
|
11468188 |
2001 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
|
0.890 |
GeneticVariation
|
BEFREE |
Recently, the gene responsible for FMF, MEFV, has been cloned and four missense mutations (M680I, M694V, V726A and M694I) have been described.
|
10709887 |
2000 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
Sixty-five patients clinically diagnosed as having FMF underwent molecular genetic studies using polymerase chain reaction and restriction endonuclease digestion methods to detect the presence of the 4 mutations (M694V, V726A, M680I, M694I).
|
10852276 |
2000 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever.
|
10612841 |
2000 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.
|
10234504 |
1999 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.
|
10090880 |
1999 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
G |
0.890 |
CausalMutation
|
CLINVAR |
Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.
|
10090880 |
1999 |