(Q37847929)

24 August 2017

1 reference

title

Familial Mediterranean fever--a review (English)

1 reference

24 August 2017

1

Mordechai Shohat

1 reference

24 August 2017

Gabrielle J Halpern

2

1 reference

24 August 2017

language of work or name

English

0 references

publication date

1 June 2011

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24 August 2017

1 reference

24 August 2017

volume

13

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24 August 2017

issue

6

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24 August 2017

page(s)

487-498

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

24 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Clinical disease among patients heterozygous for familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Changing concepts in familial Mediterranean fever: is it possible to have an autosomal-recessive disease with only one mutation?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Phenotype-genotype correlation in 91 patients with familial Mediterranean fever reveals a high frequency of cutaneomucous features

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Characteristics of patients with adult-onset familial Mediterranean fever in Turkey: analysis of 401 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Isolated recurrent pleuritis revealing familial mediterranean Fever in adulthood

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Isolated recurrent pericarditis in a patient with familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

A comparison of clinical findings of familial Mediterranean fever patients with and without amyloidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Diffuse pulmonary amyloidosis that mimics interstitial lung disease in a patient with familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Febrile myalgia syndrome in familial Mediterranean fever.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

MEFV mutation carriers and diseases other than familial Mediterranean fever: proved and non-proved associations; putative biological advantage

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Reproductive system in familial Mediterranean fever: an overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Decreased prevalence of atopy in paediatric patients with familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Familial Mediterranean fever with chronic ascites: a case report and a review of literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Criteria for the diagnosis of familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

A candidate gene for familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Inflammatory caspases: linking an intracellular innate immune system to autoinflammatory diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

The pyrin family of fever genes: unmasking genetic determinants of autoinflammatory disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts: a prominent splice isoform lacks the C-terminal domain that is highly mutated in familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Interaction of pyrin with 14.3.3 in an isoform-specific and phosphorylation-dependent manner regulates its translocation to the nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Amyloidosis induced, end stage renal disease in patients with familial Mediterranean fever is highly associated with point mutations in the MEFV gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Genetic risk factors of amyloidogenesis in familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Familial Mediterranean fever gene mutations in the Southeastern region of Turkey and their phenotypical features

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Serum amyloid A1 and tumor necrosis factor-alpha alleles in Turkish familial Mediterranean fever patients with and without amyloidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

The contribution of genotypes at the MICA gene triplet repeat polymorphisms and MEFV mutations to amyloidosis and course of the disease in the patients with familial Mediterranean fever.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

The MICA region determines the first modifier locus in familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Familial Mediterranean fever and E148Q pyrin gene mutation in Greece

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Analysis of familial Mediterranean fever gene mutations in 202 patients with familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Familial mediterranean fever in Arabs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Familial Mediterranean fever in Syrian patients: MEFV gene mutations and genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

MEFV gene mutations in Egyptian patients with familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

MEFV mutations in Tunisian patients suffering from familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

MEFV mutation carriage in Israeli Jewish individuals from ethnicities with low risk for familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Molecular study of FMF patients in Armenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Differentiating PFAPA syndrome from monogenic periodic fevers

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

TNFRSF1A mutations and autoinflammatory syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Ela2 mutations and clinical manifestations in familial congenital neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

A new CARD15 mutation in Blau syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

MEFV mutations in systemic onset juvenile idiopathic arthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

The spectrum of MEFV clinical presentations--is it familial Mediterranean fever only?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Periodic meningitis and familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Neurologic manifestations in familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

MEFV gene is a probable susceptibility gene for Behçet's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Common FMF alleles may predispose to development of Behcet's disease with increased risk for venous thrombosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Molecular analysis of MEFV gene mutations among Palestinian patients with Behcet's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Increased frequency of mutations in the gene responsible for familial Mediterranean fever (MEFV) in a cohort of patients with ulcerative colitis: evidence for a potential disease-modifying effect?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Detection of MEFV gene mutations in patients with inflammatory bowel disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Crohn disease in patients with familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

The familial Mediterranean fever (MEVF) gene as a modifier of Crohn's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

The familial Mediterranean fever (MEFV) gene may be a modifier factor of inflammatory bowel disease in infancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

The association of inflammatory bowel disease and Mediterranean fever gene (MEFV) mutations in Turkish children

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Severe disease in patients with rheumatoid arthritis carrying a mutation in the Mediterranean fever gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Familial Mediterranean fever and multiple sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Evaluation of common mutations in the Mediterranean fever gene in Multiple Sclerosis patients: is it a susceptibility gene?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Long-term outcome of live donor kidney transplantation for renal amyloidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Colchicine nonresponsiveness in familial Mediterranean fever: clinical, genetic, pharmacokinetic, and socioeconomic characterization

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Double-blind, placebo-controlled, randomized, pilot clinical trial of ImmunoGuard--a standardized fixed combination of Andrographis paniculata Nees, with Eleutherococcus senticosus Maxim, Schizandra chinensis Bail. and Glycyrrhiza glabra L. extracts

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Familial Mediterranean fever successfully treated with etanercept.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Genetics and new treatment modalities for familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Anakinra in two adolescent female patients suffering from colchicine-resistant familial Mediterranean fever: effective but risky.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Effective treatment of a colchicine-resistant familial Mediterranean fever patient with anakinra

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

The efficacy of anakinra in an adolescent with colchicine-resistant familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Anakinra: new therapeutic approach in children with Familial Mediterranean Fever resistant to colchicine

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Successful treatment of familial Mediterranean fever with Anakinra and outcome after renal transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Sulphasalazine treatment in protracted familial Mediterranean fever arthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3182060456

10.1097/GIM.0B013E3182060456

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

24 August 2017

1046907841

0 references

1 reference