|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
This study shows that p.M694I homozygosity is a potential genetic risk factor for the development of renal AA-amyloidosis in Algerian FMF patients.
|
27956278 |
2017 |
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Patients with a sure FMF</span> phenotype had a higher frequency of MEFV exon 10 mutation (M694I) and a lower frequency of MEFV exon 3 mutations (P369S, R408Q) compared with those with a probable FMF phenotype.
|
27473114 |
2016 |
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.
|
25628446 |
2015 |
|
Familial Mediterranean Fever
|
|
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 |
|
Familial Mediterranean Fever
|
|
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 |
|
Familial Mediterranean Fever
|
|
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 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.
|
23907647 |
2014 |
|
Familial Mediterranean Fever
|
|
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 |
|
Familial Mediterranean Fever
|
|
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 |
|
Familial Mediterranean Fever
|
|
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 |
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Evidence-based recommendations for the practical management of Familial Mediterranean Fever.
|
23742958 |
2013 |
|
Familial Mediterranean Fever
|
|
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 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients.
|
22037353 |
2012 |
|
Familial Mediterranean Fever
|
|
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 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
Screening for the M694V mutation of the familial Mediterranean fever (FMF) gene in 604 French patients.
|
21290976 |
2010 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
Disappearance of attacks with one dose of colchicine (1 mg/day) strengthened the presumptive diagnosis of atypical FMF, which was further confirmed by genetic testing identifying the homozygous mutation M694I/M694I of the MEFV gene.
|
20051664 |
2010 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever.
|
19863562 |
2009 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
Presentation of familial Mediterranean fever in a heterozygous MEFV mutation triggered by immunosuppressive therapy for myelodysplastic syndrome.
|
19466506 |
2009 |
|
Familial Mediterranean Fever
|
|
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 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
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 |
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Although the M694I mutation is less common among Mediterranean populations, it was present in 22 (76%) of 29 Japanese patients with FMF (previously reported cases).
|
18097735 |
2008 |
|
Familial Mediterranean Fever
|
|
0.900 |
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 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.
|
16627024 |
2007 |
|
Familial Mediterranean Fever
|
|
0.900 |
CausalMutation
|
CLINVAR |
Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF).
|
16730661 |
2006 |
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
None of the Sicilian subjects studied carried the V726A and the M694I FMF-related mutations.
|
16387839 |
2006 |