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.
about
The Pathogenesis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome: A Review of Current ResearchReduced MEFV messenger RNA expression in patients with familial Mediterranean feverInteraction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosisApproach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromesFamilial mediterranean Fever: a retrospective clinical and molecular study in the East of anatolia region of Turkey.Phenotype-genotype correlation in 91 patients with familial Mediterranean fever reveals a high frequency of cutaneomucous features.A cholesterol-lowering gene maps to chromosome 13q.The coincidence of familial mediterranean Fever and hypereosinophilia in a patient with hereditary elliptocytosis.An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvementMEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implicationsMonogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesis.CLIA-tested genetic variants on commercial SNP arrays: potential for incidental findings in genome-wide association studies.Clinical features and genetic background of the periodic Fever syndrome with aphthous stomatitis, pharyngitis, and adenitis: a single center longitudinal study of 81 patientsE148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean feverIntrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever.Prevalence and significance of mutations in the familial Mediterranean fever gene in patients with Crohn's disease.Guidelines for the genetic diagnosis of hereditary recurrent fevers.Autoinflammatory disease reloaded: a clinical perspective.Management of familial Mediterranean fever by colchicine does not normalize the altered profile of microbial long chain fatty acids in the human metabolome.Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein.Genetics and new treatment modalities for familial Mediterranean fever.Distribution of MEFV gene mutations and R202Q polymorphism in the Serbian population and their influence on oxidative stress and clinical manifestations of inflammation.Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New ZealandFamilial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for ManagementFamilial Mediterranean fever--a review.Coexistence of vasculitides with familial Mediterranean fever.Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever.Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state.Genetic Analysis of Southwestern Iranian Patients with Familial Mediterranean Fever.Familial Mediterranean fever-associated diseases in children.Familial Mediterranean fever patients homozygous for E148Q variant.Late-onset disease is associated with a mild phenotype in children with familial Mediterranean fever.Anti-IL-1 treatment in familial Mediterranean fever and related amyloidosis.Can colchicine response be predicted in familial Mediterranean fever patients?Diagnostic validity of colchicine in patients with Familial Mediterranean fever.Mediterranean Fever gene analysis in the azeri turk population with familial mediterranean Fever: evidence for new mutations associated with disease.Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children.Association of missense mutations of Mediterranean fever (MEFV) gene with multiple sclerosis in Turkish population.Erysipelas-like erythema as the presenting feature of familial Mediterranean fever.
P2860
Q26784468-CB906D89-CDE6-4090-AFC9-0EE6B921F14FQ28208176-748DA4A8-C1EE-444D-805C-31B99E343BEBQ28212112-DCD1D82E-82AA-4BD1-A89F-0A325F83C363Q28277791-91E5AA47-F872-4EA7-9E6D-15DCD26B9D41Q33674457-76E72B79-C5CB-4AD3-B17E-A69185BCDC34Q34086383-FB368968-196A-47C1-BEA7-270C29EA610AQ34146090-11B8CE0A-C8B0-4F0E-8712-A8DD996E5DBBQ34316398-8F90BE63-8348-4EC9-BEF3-21CF4CD5C349Q34326768-27E374BC-6877-40CD-AA7A-EB360D33E418Q34390765-7FB3911B-97C3-4620-A79E-0FD87D0E199FQ34489840-F0DC7EF2-9CBE-4B60-8A4C-571CE2C10DA3Q34669217-89D2426B-1CA4-4454-B449-C369A1134DDDQ35189453-D6C34F9E-EE15-4F96-A486-B8CFB5F0CFC9Q35555482-23C9E1EE-9B8F-4073-922B-2534A3145DF6Q35637910-E135EA38-6D1E-4C55-85F3-E6D1AD01453EQ36021488-F9967932-5284-4683-AAD7-B9446B3B382AQ36406233-9C49CC26-BC9F-4B78-A232-5FEAE3B71AF3Q36520994-4836FFBA-2000-42D5-A4C4-7FAD96EAA93BQ36566547-84FFF4FE-5284-4D7C-99E3-F4783C703571Q36603948-54F94800-7334-4C5F-9DDF-7ABD46A947BEQ36958310-F11C5078-F334-41E7-AA31-CDF836EA35ADQ37057769-927DF32F-CB3F-4B63-8E34-2A07F8C08FB0Q37480751-C82A6F73-FA88-4621-9750-4773CEE402C5Q37716794-C3CABAC2-8262-4483-98E8-ACEC7811DE10Q37847929-8F0D00EB-C2AB-4D7F-8379-3FA85B87F3DDQ37872631-7DF0C6A1-FD31-4878-8BC5-B902C729AB24Q38335115-4FBFD9D2-DAFB-4D2C-95D5-E8602A961BEDQ39021036-D6471C85-ED75-443B-8465-6A980E46B296Q39143373-E1217BE9-27C9-4AE3-88BF-7140ED2BE078Q40062818-79B0CB07-2BA8-4A7F-A624-E3FC0ACF0AA9Q40074680-1041CA3F-5E14-4413-9CBF-F4252F817C73Q40095229-604ACAE1-C248-4E64-A7AC-117B961E1C3EQ40119677-2F32A685-02BA-4D7E-8BD3-71C63C5D9540Q40191340-F378F5E0-7F35-4C0B-A6A9-BEE0AB8C2A89Q40209256-D6212AB4-8F8F-40F6-BDC5-A3231CD01746Q40210237-163DA7BB-DF25-44D8-A47A-D565B3341D5EQ40241017-E1CCB971-1559-44D1-8A43-9C75FDBC9721Q40255424-E02F845B-83F0-4DF0-AB55-55F3CB6DC16CQ40261751-8FE8ADC8-70AA-4DD6-B8F9-A10F8ADDCCA2Q40299264-DA02211B-D54E-48A0-A06D-4E03D54D6CC0
P2860
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.
description
1999 nî lūn-bûn
@nan
1999 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
name
Mutation and haplotype studies ...... e Ashkenazi Jewish population.
@ast
Mutation and haplotype studies ...... e Ashkenazi Jewish population.
@en
Mutation and haplotype studies ...... e Ashkenazi Jewish population.
@nl
type
label
Mutation and haplotype studies ...... e Ashkenazi Jewish population.
@ast
Mutation and haplotype studies ...... e Ashkenazi Jewish population.
@en
Mutation and haplotype studies ...... e Ashkenazi Jewish population.
@nl
prefLabel
Mutation and haplotype studies ...... e Ashkenazi Jewish population.
@ast
Mutation and haplotype studies ...... e Ashkenazi Jewish population.
@en
Mutation and haplotype studies ...... e Ashkenazi Jewish population.
@nl
P2093
P2860
P356
P1476
Mutation and haplotype studies ...... he Ashkenazi Jewish population
@en
P2093
D L Kastner
I Aksentijevich
M P Azzaro
P2860
P304
P356
10.1086/302327
P407
P577
1999-04-01T00:00:00Z