|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In order to determine the association between M694V and clinical features of FM</span>F, we compared the disease features between patients with and without this mutation.
|
25150514 |
2015 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.
|
25628446 |
2015 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Forty-seven genetic-negative, 60 genetically heterogeneous and 57 p.M694V homozygous FMF patients were enrolled to the study.
|
25887307 |
2015 |
|
rs28940578
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
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 |
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 |
Typical FMF phenotype frequencies were decreased in patients carrying 2 or a single low-penetrance mutations compared with those carrying 2 or a single high-penetrance mutations (M694I), with an opposite trend for the atypical FMF phenotype.
|
24797171 |
2014 |
|
rs28940578
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.
|
23907647 |
2014 |
|
rs28940578
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Amyloid A amyloidosis in a Japanese patient with familial Mediterranean fever associated with homozygosity for the pyrin variant M694I/M694I.
|
24593212 |
2014 |
|
rs28940579
|
|
G |
0.900 |
GeneticVariation |
CLINVAR |
Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.
|
23907647 |
2014 |
|
rs28940579
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.
|
23907647 |
2014 |
|
rs28940579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The frequencies of independent alleles, with decreasing order, were E148Q (30.7 %), M694V (26.0 %), R761H (13.5 %), V726A (13.0 %), P369S (10.5 %) and M680I (6.3 %) in FMF patients.
|
24071932 |
2014 |
|
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
|
|
C |
0.900 |
GeneticVariation |
CLINVAR |
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 |
|
rs61752717
|
|
C |
0.900 |
CausalMutation |
CLINVAR |
Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.
|
23907647 |
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 |
|
rs61752717
|
|
C |
0.900 |
CausalMutation |
CLINVAR |
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 |
|
rs61752717
|
|
C |
0.900 |
CausalMutation |
CLINVAR |
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
|
24123366 |
2014 |
|
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 |
|
rs28940578
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
|
22975760 |
2013 |
|
rs28940578
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Evidence-based recommendations for the practical management of Familial Mediterranean Fever.
|
23742958 |
2013 |
|
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 |
|
rs28940579
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Evidence-based recommendations for the practical management of Familial Mediterranean Fever.
|
23742958 |
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 |
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 |
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 |