Published in Arthritis Rheum on May 01, 2007
Autoinflammatory disease reloaded: a clinical perspective. Cell (2010) 3.04
Familial Mediterranean fever with a single MEFV mutation: where is the second hit? Arthritis Rheum (2009) 2.02
As a new inflammatory marker for familial Mediterranean fever: neutrophil-to-lymphocyte ratio. Inflammation (2013) 1.83
Monogenic autoinflammatory diseases: concept and clinical manifestations. Clin Immunol (2013) 1.40
Periodic fever and apoptosis of accumulated neutrophils in familial mediterranean fever: comment on the article by Touitou et al. Arthritis Rheum (2007) 1.38
The Q705K polymorphism in NLRP3 is a gain-of-function alteration leading to excessive interleukin-1β and IL-18 production. PLoS One (2012) 1.36
Current status of understanding the pathogenesis and management of patients with NOMID/CINCA. Curr Rheumatol Rep (2011) 1.20
Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation. Rheum Dis Clin North Am (2013) 0.98
Renal amyloidosis in children. Pediatr Nephrol (2011) 0.96
Familial Mediterranean fever: current perspectives. J Inflamm Res (2016) 0.95
The spectrum of monogenic autoinflammatory syndromes: understanding disease mechanisms and use of targeted therapies. Curr Allergy Asthma Rep (2008) 0.94
Common genetic variations in the NALP3 inflammasome are associated with delayed apoptosis of human neutrophils. PLoS One (2012) 0.94
The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy. Clin Rheumatol (2014) 0.93
The spectrum of autoinflammatory diseases: recent bench to bedside observations. Curr Opin Rheumatol (2008) 0.90
Mortality risk factors associated with familial Mediterranean fever among a cohort of 1.25 million adolescents. Ann Rheum Dis (2013) 0.89
Familial Mediterranean fever in Germany: epidemiological, clinical, and genetic characteristics of a pediatric population. Eur J Pediatr (2012) 0.86
From the Mediterranean to the sea of Japan: the transcontinental odyssey of autoinflammatory diseases. Biomed Res Int (2013) 0.85
Anti-IL-1 treatment in familial Mediterranean fever and related amyloidosis. Clin Rheumatol (2014) 0.85
The myths we believed in familial Mediterranean fever: what have we learned in the past years? Semin Immunopathol (2015) 0.85
Clinical genetic testing of periodic fever syndromes. Biomed Res Int (2013) 0.83
Heart rate variability in familial Mediterranean fever. Rheumatol Int (2009) 0.81
The frequency of familial mediterranean Fever related amyloidosis in renal waiting list for transplantation. Eurasian J Med (2010) 0.81
What is the best acute phase reactant for familial Mediterranean fever follow-up and its role in the prediction of complications? A systematic review. Rheumatol Int (2015) 0.81
Long-term safety profile of anakinra in patients with severe cryopyrin-associated periodic syndromes. Rheumatology (Oxford) (2016) 0.80
The MEFV mutations and their clinical correlations in children with familial Mediterranean fever in southeast Turkey. Rheumatol Int (2013) 0.80
Vascular comorbidities in familial Mediterranean fever. Rheumatol Int (2011) 0.80
Evaluation of hearing in patients with familial Mediterranean fever. Eur Arch Otorhinolaryngol (2013) 0.78
Familial Mediterranean fever without MEFV mutations: a case-control study. Orphanet J Rare Dis (2015) 0.77
Quality of life in adult patients with Familial Mediterranean fever living in Germany or Turkey compared to healthy subjects: a study evaluating the effect of disease severity and country of residence. Rheumatol Int (2012) 0.77
Infliximab therapy for familial Mediterranean fever-related amyloidosis: case series with long term follow-up. Clin Rheumatol (2012) 0.77
A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever. BMC Med Genet (2014) 0.77
Relationship between periodontal destruction and gene mutations in patients with familial Mediterranean fever. Clin Rheumatol (2015) 0.76
P-wave dispersion in systemic AA amyloidosis of familial Mediterranean fever. Clin Rheumatol (2011) 0.76
Decrease in the rate of secondary amyloidosis in Turkish children with FMF: are we doing better? Eur J Pediatr (2010) 0.76
Regulating against the dysregulation: new treatment options in autoinflammation. Semin Immunopathol (2015) 0.76
P wave dispersion and QT dispersion in adult Turkish migrants with familial mediterranean fever living in Germany. Int J Med Sci (2014) 0.75
Predictors of AA amyloidosis in familial Mediterranean fever. Rheumatol Int (2015) 0.75
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations. Front Immunol (2017) 0.75
Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management. Front Immunol (2017) 0.75
[Autoinflammatory diseases in childhood]. Z Rheumatol (2009) 0.75
Normal autonomic nervous system responses in uncomplicated familial Mediterranean fever: a comparative case-control study. Clin Rheumatol (2011) 0.75
[Caspase-1 regulates autoinflammation in rheumatic diseases]. Z Rheumatol (2016) 0.75
The detection of a novel insertion mutation in exon 2 of the MEFV gene associated with familial mediterranean fever in a moroccan family. Hum Genome Var (2017) 0.75
Does breast-feeding affect severity of familial Mediterranean fever? Clin Rheumatol (2009) 0.75
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A (2009) 15.09
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med (2004) 7.60
Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med (2014) 4.70
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet (2013) 4.62
Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation. JAMA (2006) 4.09
Measuring European population stratification with microarray genotype data. Am J Hum Genet (2007) 4.03
Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. J Clin Oncol (2005) 3.44
Eprodisate for the treatment of renal disease in AA amyloidosis. N Engl J Med (2007) 3.38
Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst (2002) 3.25
Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease. Nat Genet (2010) 3.24
Two randomized trials of canakinumab in systemic juvenile idiopathic arthritis. N Engl J Med (2012) 3.14
Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore) (2005) 3.01
Potential role for interleukin-28B genotype in treatment decision-making in recent hepatitis C virus infection. Hepatology (2010) 2.56
The Pediatric Rheumatology International Trials Organization criteria for the evaluation of response to therapy in juvenile systemic lupus erythematosus: prospective validation of the disease activity core set. Arthritis Rheum (2005) 2.55
A high-density screen for linkage in multiple sclerosis. Am J Hum Genet (2005) 2.50
Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations. Arthritis Rheum (2003) 2.32
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J Hum Genet (2005) 2.21
Vibratory Urticaria Associated with a Missense Variant in ADGRE2. N Engl J Med (2016) 2.09
Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children. Ann Rheum Dis (2013) 2.09
Assessment of aortic stiffness and ventricular functions in familial Mediterranean fever. Anadolu Kardiyol Derg (2008) 2.08
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet (2005) 2.04
Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population. Proc Natl Acad Sci U S A (2006) 1.99
Cockroaches keep predators guessing by using preferred escape trajectories. Curr Biol (2008) 1.95
DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN. J Am Soc Nephrol (2012) 1.93
Clinical disease among patients heterozygous for familial Mediterranean fever. Arthritis Rheum (2009) 1.89
Direct activation of cytosolic Ca2+ signaling and enzyme secretion by cholecystokinin in human pancreatic acinar cells. Gastroenterology (2008) 1.89
Biochemical subtyping of amyloid in formalin-fixed tissue samples confirms and supplements immunohistologic data. Am J Clin Pathol (2004) 1.77
A randomized trial of parenteral methotrexate comparing an intermediate dose with a higher dose in children with juvenile idiopathic arthritis who failed to respond to standard doses of methotrexate. Arthritis Rheum (2004) 1.71
Expansion of gammadelta T-cells in Behçet's disease: role of disease activity and microbial flora in oral ulcers. J Lab Clin Med (2003) 1.69
Colchicine use in children and adolescents with familial Mediterranean fever: literature review and consensus statement. Pediatrics (2007) 1.68
The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum (2002) 1.67
Biological determinants of immune reconstitution in HIV-infected patients receiving antiretroviral therapy: the role of interleukin 7 and interleukin 7 receptor α and microbial translocation. J Infect Dis (2010) 1.63
The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease. J Am Soc Nephrol (2002) 1.60
Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int (2008) 1.58
Arthritis as the sole episodic manifestation of familial Mediterranean fever. J Rheumatol (2005) 1.56
The distribution of MEFV common mutations among Israeli patients with familial Mediterranean fever. Isr Med Assoc J (2003) 1.55
Varying clinical features of Turkish Kawasaki disease patients. Turk J Pediatr (2012) 1.54
A new set of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology (Oxford) (2009) 1.54
CATSPER2, a human autosomal nonsyndromic male infertility gene. Eur J Hum Genet (2003) 1.54
EULAR/PRINTO/PRES criteria for Henoch-Schönlein purpura, childhood polyarteritis nodosa, childhood Wegener granulomatosis and childhood Takayasu arteritis: Ankara 2008. Part I: Overall methodology and clinical characterisation. Ann Rheum Dis (2010) 1.51
Women in academic rheumatology. Arthritis Rheum (2005) 1.49
The structural effect of the E148Q MEFV mutation on the pyrin protein: a study using a quantum chemistry model. Isr Med Assoc J (2011) 1.49
Familial Mediterranean fever (FMF) with proteinuria: clinical features, histology, predictors, and prognosis in a cohort of 25 patients. J Rheumatol (2013) 1.49
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. Am J Hum Genet (2008) 1.49
Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers. Int J Cancer (2005) 1.48
Macrophage activation syndrome in juvenile systemic lupus erythematosus: a multinational multicenter study of thirty-eight patients. Arthritis Rheum (2009) 1.47
Increased frequency of extremely skewed X chromosome inactivation in juvenile idiopathic arthritis. Arthritis Rheum (2009) 1.45
Familial Mediterranean fever in Ashkenazi Jews: the mild end of the clinical spectrum. J Rheumatol (2009) 1.45
Chronic inflammation in FMF: markers, risk factors, outcomes and therapy. Nat Rev Rheumatol (2010) 1.45
Myeloid dysplasia in familial 3-methylglutaconic aciduria. J Pediatr Hematol Oncol (2006) 1.42
Kindlin-3: a new gene involved in the pathogenesis of LAD-III. Blood (2008) 1.40
Familial Mediterranean fever and the other autoinflammatory syndromes: evaluation of the patient with recurrent fever. Curr Opin Rheumatol (2006) 1.40
Periodic fever in infants: familial Mediterranean fever only? Isr Med Assoc J (2003) 1.39
EULAR points to consider in the development of classification and diagnostic criteria in systemic vasculitis. Ann Rheum Dis (2010) 1.38
An international registry on autoinflammatory diseases: the Eurofever experience. Ann Rheum Dis (2012) 1.36
Evaluation of disease severity in familial Mediterranean fever. Semin Arthritis Rheum (2005) 1.34
Proxy-reported health-related quality of life of patients with juvenile idiopathic arthritis: the Pediatric Rheumatology International Trials Organization multinational quality of life cohort study. Arthritis Rheum (2007) 1.32
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet (2002) 1.32
Takayasu arteritis in children. J Rheumatol (2008) 1.30
INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations. Nucleic Acids Res (2003) 1.26
Renal Behçet's disease: a cumulative analysis. Semin Arthritis Rheum (2002) 1.23
Clinical features, treatment, and outcome of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis: a multinational, multicenter study of 362 patients. Arthritis Rheumatol (2014) 1.22
A new international classification of childhood vasculitis. Pediatr Nephrol (2006) 1.22
Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Cancer Causes Control (2005) 1.20
Transcriptome analysis of monocytic leukemia cell differentiation. Genomics (2002) 1.17
SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4. Am J Hum Genet (2008) 1.16
Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. Am J Hum Genet (2002) 1.14
Familial Mediterranean fever and glomerulonephritis and review of the literature. Rheumatol Int (2003) 1.12
Biologic therapy in primary systemic vasculitis of the young. Rheumatology (Oxford) (2009) 1.12
An X-linked haplotype of Neandertal origin is present among all non-African populations. Mol Biol Evol (2011) 1.11
Abdominal and digestive system associations of familial Mediterranean fever. Am J Gastroenterol (2003) 1.11
Aberrant cell cycle and apoptotic changes characterise severe influenza A infection--a meta-analysis of genomic signatures in circulating leukocytes. PLoS One (2011) 1.09
The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever. Arthritis Rheum (2003) 1.09
Th1 polarization in familial Mediterranean fever. J Rheumatol (2003) 1.08
An antibody profile of systemic lupus erythematosus detected by antigen microarray. Immunology (2010) 1.08
Long-term outcomes in difficult-to-treat patients with recurrent pericarditis. Am J Cardiol (2006) 1.07
Risk factors in community-acquired urinary tract infections caused by ESBL-producing bacteria in children. Pediatr Nephrol (2010) 1.06
The familial Mediterranean fever (MEVF) gene as a modifier of Crohn's disease. Am J Gastroenterol (2005) 1.05
Primary nephrotic syndrome during childhood in Turkey. Pediatr Int (2004) 1.04
Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation. Neurology (2005) 1.04
Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes. Arthritis Rheum (2011) 1.03
Clinical and diagnostic value of genetic testing in 216 Israeli children with Familial Mediterranean fever. J Rheumatol (2003) 1.03
Changing concepts in familial Mediterranean fever: is it possible to have an autosomal-recessive disease with only one mutation? Arthritis Rheum (2009) 1.03
Acute hepatitis B or exacerbation of chronic hepatitis B-that is the question. World J Gastroenterol (2008) 1.02
Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers. Breast Cancer Res (2006) 1.01
Androgen receptor CAG repeat length in Jewish Israeli women who are BRCA1/2 mutation carriers: association with breast/ovarian cancer phenotype. Eur J Hum Genet (2002) 1.01
Estimating the allele frequency of autosomal recessive disorders through mutational records and consanguinity: the Homozygosity Index (HI). Ann Hum Genet (2011) 1.01
MEFV mutations modify the clinical presentation of Henoch-Schönlein purpura. J Rheumatol (2008) 0.99
Familial Mediterranean fever successfully treated with etanercept. J Clin Rheumatol (2007) 0.98
MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study. Nephrol Dial Transplant (2002) 0.98
Testing hypotheses of language replacement in the Caucasus: evidence from the Y-chromosome. Hum Genet (2002) 0.98
Impact of hepatitis C virus (HCV) genotypes on quantification of HCV RNA in serum by COBAS AmpliPrep/COBAS TaqMan HCV test, Abbott HCV realtime assay [corrected] and VERSANT HCV RNA assay. J Clin Microbiol (2007) 0.98
Anti-IL-1 treatment for secondary amyloidosis in an adolescent with FMF and Behçet's disease. Clin Rheumatol (2009) 0.98
Evaluation of the current disease severity scores in paediatric FMF: is it necessary to develop a new one? Rheumatology (Oxford) (2011) 0.98
Colchicine nonresponsiveness in familial Mediterranean fever: clinical, genetic, pharmacokinetic, and socioeconomic characterization. Semin Arthritis Rheum (2004) 0.98
The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever. Eur J Hum Genet (2002) 0.97
A multicenter study of patients with adult-onset Still's disease compared with systemic juvenile idiopathic arthritis. Clin Rheumatol (2005) 0.97