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Condition: Familial Mediterranean Fever

rs104895080 in MEFV gene and Familial Mediterranean Fever

PMID 23742958 2013 Evidence-based recommendations for the practical management of Familial Mediterranean Fever.

PMID 25628446 2015 Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.

PMID 19253030 2010 Familial Mediterranean fever in Syrian patients: MEFV gene mutations and genotype-phenotype correlation.

PMID 15146467 2004 An improved electronic microarray-based diagnostic assay for identification of MEFV mutations.

PMID 25393764 2015 Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients.

PMID 9668175 1998 In a search for additional MEFV mutations in 120 apparently non-founder FMF chromosomes, we observed eight novel mutations in exon 2 (E148Q, E167D and T267I), exon 5 (F479L) and exon 10 (I692del K695R, A744S and R761H).

PMID 17566872 2008 MEFV gene mutations spectrum among Lebanese patients referred for Familial Mediterranean Fever work-up: experience of a major tertiary care center.

PMID 20485448 2010 Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations.

PMID 15951859 2005 Genetic screening of familial Mediterranean fever mutations in the Palestinian population.

PMID 11470495 2001 Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease.

PMID 26620106 2016 Adult autoinflammatory disease frequency and our diagnostic experience in an adult autoinflammatory clinic.

PMID 24158885 2013 Genotype-phenotype and genotype-origin correlations in children with mediterranean fever in Germany - an AID-net study.

PMID 17665427 2007 An unexpectedly high frequency of MEFV mutations in patients with anti-citrullinated protein antibody-negative palindromic rheumatism.

PMID 19479870 2009 Familial Mediterranean fever with a single MEFV mutation: where is the second hit?

PMID 21413889 2011 "Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a ""heterozygote advantage"" in Turkey?"

PMID 17938136 2007 Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance.

PMID 24469716 2014 Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey.

PMID 16378925 2006 Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.

PMID 23633568 2013 Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease.

PMID 11242116 2001 Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states.

PMID 11464238 2001 The spectrum of Familial Mediterranean Fever (FMF) mutations.

PMID 21727933 2011 Genetics of monogenic autoinflammatory diseases: past successes, future challenges.

PMID 19863562 2009 MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever.

PMID 16120953 2005 Multiplex molecular diagnosis of MEFV mutations in patients with familial Mediterranean fever by LightCycler real-time PCR.

PMID 10787449 2000 The genetic basis of autosomal dominant familial Mediterranean fever.

PMID 10090880 1999 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.

PMID 17592559 2007 Clinical and molecular diagnosis of Familial Mediterranean Fever in Egyptian children.

PMID 10024914 1998 Pyrin/marenostrin mutations in familial Mediterranean fever.

PMID 15018633 2004 Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects.

PMID 9668175 1998 Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

PMID 27150194 2017 Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration.

PMID 25760918 2016 Clinical Review: Familial Mediterranean Fever-An Overview of Pathogenesis, Symptoms, Ocular Manifestations, and Treatment.

PMID 22019805 2011 Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population.

PMID 23907647 2014 Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.

PMID 17276496 2007 MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.

PMID 19777236 2010 MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations.

PMID 25648235 2015 MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever.

PMID 9668175 1998 In a search for additional MEFV mutations in 120 apparently non-founder FMF chromosomes, we observed eight novel mutations in exon 2 (E148Q, E167D and T267I), exon 5 (F479L) and exon 10 (I692del K695R, A744S and R761H).

PMID 24929125 2014 Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V).

PMID 27733942 2016 The role of MEFV mutations in the concurrent disorders observed in patients with familial Mediterranean fever.

PMID 27364639 2016 Distribution of MEFV gene mutations and R202Q polymorphism in the Serbian population and their influence on oxidative stress and clinical manifestations of inflammation.

PMID 26003477 2015 Familial Mediterranean fever gene mutations in north-eastern part of Anatolia with special respect to rare mutations.

PMID 19934083 2010 MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study.

PMID 10612841 2000 MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever.

PMID 22207183 2012 Evaluating MEFV mutation frequency in Turkish familial Mediterranean fever suspected patients and gender correlation: a retrospective study.

PMID 17489852 2007 MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever.

PMID 19449169 2010 MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey.

PMID 19863562 2009 The p.R761H mutation is rather prevalent in Azeri Turks; therefore, it should be included in the routine molecular diagnosis of FMF patients from this ethnic group.

PMID 9668175 1998 In a search for additional MEFV mutations in 120 apparently non-founder FMF chromosomes, we observed eight novel mutations in exon 2 (E148Q, E167D and T267I), exon 5 (F479L) and exon 10 (I692del K695R, A744S and R761H).

PMID 27980538 2016 Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran.

PMID 25703702 2015 The spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T).

PMID 25615955 2015 Simple markers for subclinical inflammation in patients with Familial Mediterranean Fever.

PMID 27621632 2016 Association between sequence variations of the Mediterranean fever gene and the risk of migraine: a case-control study.

PMID 27659338 2016 Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.

PMID 26351556 2015 FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis.

PMID 23038988 2013 The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA.

PMID 24071932 2014 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.

PMID 16627024 2007 Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.

PMID 10364520 1999 MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.

PMID 23031807 2012 Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey.

PMID 25648235 2015 In the northwest of Iran (Ardabil), 216 patients with FMF diagnosis, based on Tel-Hashomer criteria, referred to the genetic laboratory to be tested for the following mutations; P369S, F479L, M680I(G/C), M680I(G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q.

PMID 25286988 2015 Increased prevalence of MEFV exon 10 variants in Japanese patients with adult-onset Still's disease.

PMID 23137073 2013 Familial Mediterranean fever in Germany: clinical presentation and amyloidosis risk.

PMID 26247045 2015 Global epidemiology of Familial Mediterranean fever mutations using population exome sequences.

PMID 23505238 2014 MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.

PMID 19934105 2010 P369S/R408Q substitutions are associated with a highly variable phenotype, and are infrequently associated with typical FMF symptoms, however a trial of colchicine is warranted in all.

PMID 19934105 2010 P369S/R408Q substitutions are associated with a highly variable phenotype, and are infrequently associated with typical FMF symptoms, however a trial of colchicine is warranted in all.

PMID 21562927 2012 Enhanced exon 2 skipping caused by c.910G>A variant and alternative splicing of MEFV genes in two independent cases of familial Mediterranean fever.

PMID 26843738 2015 Genetic Profile of Patients with Familial Mediterranean Fever (FMF): Single Center Experience at King Hussein Medical Center (KHMC).

PMID 9781020 1998 Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF).

PMID 26027984 2015 A genetic examination disclosed compound heterozygous MEFV mutations (E84K, P369S), and familial Mediterranean fever was diagnosed.

PMID 25261100 2014 Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations.

PMID 18328141 2008 In our 12 FMF patients, we detected the substitutions E84K, L110P, E148Q, R761H and M694I.

PMID 24797171 2014 Familial Mediterranean fever: genotype-phenotype correlations in Japanese patients.

PMID 25088882 2014 Acute pericarditis as the first manifestation of familial Mediterranean fever: a possible relationship with idiopathic recurrent pericarditis.

PMID 19466506 2009 Presentation of familial Mediterranean fever in a heterozygous MEFV mutation triggered by immunosuppressive therapy for myelodysplastic syndrome.

PMID 16730661 2006 Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF).

PMID 20051664 2010 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.

PMID 9288094 1997 A candidate gene for familial Mediterranean fever.

PMID 15168590 2004 E148Q/M694I mutation in 3 Japanese patients with familial Mediterranean fever.

PMID 17711558 2008 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).

PMID 22975760 2013 An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

PMID 22037353 2012 Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients.

PMID 21290976 2010 Screening for the M694V mutation of the familial Mediterranean fever (FMF) gene in 604 French patients.

PMID 11938447 2002 Five sequence alterations (M694V, V726A, M680I, M694I and E148Q), in the MEFV gene, account for the majority of FMF chromosomes.

PMID 12064853 2002 Familial Mediterranean fever in 2 Japanese families.

PMID 24318677 2014 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.

PMID 15805719 2005 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.

PMID 10234504 1999 Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.

PMID 16785446 2006 The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production.

PMID 18386244 2008 A rare cause of ascites: Familial Mediterranean fever.

PMID 9288758 1997 Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.

PMID 27994174 2016 Evidence of digenic inheritance in autoinflammation-associated genes.

PMID 21600797 2011 Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice.

PMID 21995303 2012 'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient.

PMID 26690517 2015 Frequency of mutations in Mediterranean fever gene, with gender and genotype-phenotype correlations in a Turkish population.

PMID 10879615 2000 Familial Mediterranean fever diagnosed by PCR.

PMID 15745878 2005 The V726A mutation, although identified in FMF patients with a relatively mild phenotype, has also been detected in patients with renal amyloidosis.

PMID 11464238 2001 Five founder mutations, V726A, M694V, M694I, M680I and E148Q account for 74% of FMF chromosomes from typical cases (Armenians, Arabs, Jews, and Turks).

PMID 11977178 2002 Six sequence alterations (M694V, V726A, K695R, M680I, M694I, and E148Q), in the MEFV gene, account for the majority of FMF chromosomes.

PMID 10852276 2000 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).

PMID 18307385 2008 Comparison of the results of PCR-RFLP and reverse hybridization methods used in molecular diagnosis of FMF.

PMID 21623663 2011 Common MEFV mutations in Iranian Azeri Turkish patients with Behçet's disease.

PMID 16255051 2005 MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients.

PMID 26759267 2015 Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever.

PMID 11464248 2001 Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population.

PMID 18353061 2008 Genotype-phenotype correlation in children with familial Mediterranean fever in a Turkish population.

PMID 20177433 2010 Familial mediterranean Fever: a retrospective clinical and molecular study in the East of anatolia region of Turkey.

PMID 26413094 2015 Familial Mediterranean Fever in Iran: A Report from FMF Registration Center.

PMID 23973724 2013 We screened 207 BD patients who had no symptoms and family history for FMF and 200 healthy subjects for five common MEFV gene mutations (E148Q, M680I, M694V, V726A, P369S) and clinical features.

PMID 11468188 2001 The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments.

PMID 19845843 2009 Familial Mediterranean fever gene mutations in the inner northern region of Turkey and genotype-phenotype correlation in children.

PMID 11938447 2002 Five sequence alterations (M694V, V726A, M680I, M694I and E148Q), in the MEFV gene, account for the majority of FMF chromosomes.

PMID 23800337 2013 Frequency of MEFV mutation and genotype-phenotype correlation in cases with dysmenorrhea.

PMID 12401847 2002 MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study.

PMID 23206577 2012 The expanded clinical profile and the efficacy of colchicine therapy in Egyptian children suffering from familial Mediterranean fever: a descriptive study.

PMID 26722138 2016 Bone Mineral Density in Egyptian Children with Familial Mediterranean Fever.

PMID 20669279 2010 Association of familial Mediterranean fever-related MEFV variations with ankylosing spondylitis.

PMID 16234278 2006 Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes.

PMID 23716950 2012 Renal amyloidosis due to familial mediterranean fever misdiagnosed.

PMID 20008924 2010 Familial Mediterranean fever in Ashkenazi Jews: the mild end of the clinical spectrum.

PMID 21246368 2012 MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever.

PMID 20165923 2011 Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers.

PMID 25648235 2015 In the northwest of Iran (Ardabil), 216 patients with FMF diagnosis, based on Tel-Hashomer criteria, referred to the genetic laboratory to be tested for the following mutations; P369S, F479L, M680I(G/C), M680I(G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q.

PMID 14578331 2003 Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations.

PMID 25793047 2014 PFAPA and 12 Common MEFV Gene Mutations Our Clinical Experience.

PMID 22661645 2012 Guidelines for the genetic diagnosis of hereditary recurrent fevers.

PMID 15024744 2004 "The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination ""hot-spot"" at the MEFV locus."

PMID 20534143 2010 1Novel MEFV transcripts in Familial Mediterranean fever patients and controls.

PMID 21598806 2011 Expanding the panel of MEFV mutations for routine testing of patients with a clinical diagnosis of familial Mediterranean fever.

PMID 19786432 2009 Differentiating PFAPA syndrome from monogenic periodic fevers.

PMID 27884173 2016 Revisiting the morbid genome of Mendelian disorders.

PMID 28590056 2017 R202Q/M694V as novel MEFV gene mutations in chronic periodontitis and familial Mediterranean fever.

PMID 9668175 1998 In a search for additional MEFV mutations in 120 apparently non-founder FMF chromosomes, we observed eight novel mutations in exon 2 (E148Q, E167D and T267I), exon 5 (F479L) and exon 10 (I692del K695R, A744S and R761H).

PMID 24318677 2014 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.

PMID 20008920 2010 Unresponsiveness to colchicine therapy in patients with familial Mediterranean fever homozygous for the M694V mutation.

PMID 24123366 2014 Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

PMID 15643295 2005 Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study.

PMID 10364520 1999 MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.

PMID 16889173 2006 Familial Mediterranean fever and peritoneal malignant mesothelioma: a possible association?

PMID 15942916 2005 They also show that M694V is the most common mutation in Arab patients with FMF and seems to have an association with the development of amyloidosis and the PFMS.

PMID 23334425 2013 Enthesopathy in patients with familial Mediterranean fever: increased prevalence in M694 V variant.

PMID 22790142 2012 Here, we report the different clinical courses of FMF in a family carrying the same M694V mutation.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 15745878 2005 [Familial Mediterranean Fever (FMF): from diagnosis to treatment].

rs398124226 in SEC23B gene and Familial Mediterranean Fever

PMID 25044164 2014 Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.

PMID 19621418 2009 Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.

PMID 19561605 2009 Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.