|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The M694V mutation frequency was lower, and disease severity was relatively mild in FMF children of this region.
|
24071932 |
2014 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
FMF patients heterozygous for E148Q mutation, heterozygous for M694I mutation, or combined heterozygous for E148Q and M694I mutations, which were found to be major mutations in an FMF study group in Japan, suffer from arthritis, the severity of which is likely to be lower than in FMF patients with M694V mutations.
|
24318677 |
2014 |
|
rs28940578
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Three Japanese patients (mother and two children) with familial Mediterranean fever associated with compound heterozygosity for L110P/E148Q/M694I and an autosomal true dominant inheritance pattern.
|
24383976 |
2013 |
|
rs28940578
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Genomic analysis showed the patient to be heterozygous for the E148Q/M694I mutation in the MEFV gene, and we diagnosed familial Mediterranean fever.
|
22766764 |
2013 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Furthermore, carriage of the familial Mediterranean fever gene (MEFV) mutation Met694Val, which is known to cause recessively inherited familial Mediterranean fever, conferred BD risk in the Turkish population (OR, 2.65; P = 1.8 × 10(-12)).
|
23633568 |
2013 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
M694V homozygosity was associated with an earlier FMF onset (median age 5.5 years, p = 0.0001) and a higher prevalence of peritonitis (p = 0.007) and pleuritis (p = 0.0007) compared to patients without an M694V mutation.
|
23137073 |
2013 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
OMERACT score did not differ between FMF patients with and without M694V gene mutation.
|
23812619 |
2013 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
All 12 common mutations in the MEFV gene were analyzed and the M694V variant was found to be associated with an adverse FMF clinical outcome in the Armenian-American population, manifested by earlier onset of disease, increased severity of disease, and renal amyloidosis.
|
23038988 |
2013 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The allele frequency of M694V among the FMF patients with radiographic sacroiliitis was significantly higher in comparison with those without sacroiliitis (OR 4.3).
|
23356447 |
2013 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Genotyping of the MEFV gene in FMF patients revealed a homozygous M694V missense mutation in one patient, and heterozygous missense mutations in seven patients: M694V (n = 3), E148Q, R717H, A744S, and A511V.
|
22281876 |
2012 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The frequencies of three familial Mediterranean fever-related MEFV gene mutations (M694V, V726A and E148Q) were investigated in 70 SLE patients.
|
22532615 |
2012 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Despite evidence that environmental factors (EFs) and genetic factors, including MEFV mutations (such as M694V, E148Q) and background modifier genes (MGs), affect the clinical manifestations of FMF, the relative contribution of each remains unknown.
|
22019429 |
2012 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Patients with FMF amyloidosis carried only M694V mutations in the FMF gene, while FMF without amyloidosis featured other mutations as well.
|
22675837 |
2012 |
|
rs28940578
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation.
|
20937419 |
2011 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Recent studies conducted in populations with a high background carrier rate of MEFV variants have reported an increased frequency of M694V among AS patients with no personal or family history of FMF.
|
21695514 |
2011 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
M694V homozygous mutation was found most frequently in definitive FMF group than other groups (49, 9, 8.9%, respectively).
|
20217092 |
2011 |
|
rs28940579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The increased frequency of V726A gene mutation and the rarity of amyloidosis in this study suggest that Egyptian patients may have a milder form of FMF compared to other populations.
|
19777236 |
2010 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We identified 1 homozygous (E148Q/E148Q), 1 compound heterozygous (M694V/E148Q) and 5 heterozygous MEFV gene mutations; none had their own and/or family history compatible with familial Mediterranean fever.
|
20437121 |
2010 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The profile of MEFV gene mutations in this study suggests that the origin of FMF in Egypt is heterogeneous, a finding in concordance with that for other Arab populations; however, some differences were observed as M694V, the most common mutation reported in Arabs, was not detected in this study.
|
21294448 |
2010 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Unresponsiveness to colchicine therapy in patients with familial Mediterranean fever homozygous for the M694V mutation.
|
20008920 |
2010 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Homozygote mutation of M694V was detected in 37 (20.2%) and 4 (5.2%) patients in early onset FMF and adult onset FMF groups, respectively (p < 0.05).
|
19641922 |
2010 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Increased prevalence of M694V in patients with ankylosing spondylitis: additional evidence for a link with familial mediterranean fever.
|
20533539 |
2010 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We investigated 316 patients with a clinical diagnosis of FMF for 12 MEFV mutations including the 5 most common known mutations M694V, V726A, M694I, M680I, and E148Q by allele-specific hybridization.
|
20151816 |
2010 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The most frequent mutation in FMF was M694V and the most frequent genotype was M694V/M694V.
|
20373849 |
2010 |
|
rs28940578
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Common MEFV mutation patterns were E148Q/M694I (25.0%), M694I alone (17.5%), and L110P/E148Q/M694I (17.5%), and no patient carried the M694V mutation, the most common mutation in Mediterranean patients with FMF.
|
19531756 |
2009 |