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Mefv Gene Mutations In Familial Mediterranean Fever Phenotype Ii Patients With Renal Amyloidosis In Childhood: A Retrospective Clinicopathological And Molecular Study
(Oxford Univ Press, 2002)
Background. Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring attacks of fever and serositis. The definition of the mutated gene has allowed molecular diagnosis of the disease. ...
Allelic Variants in Genes Associated with Hereditary Periodic Fever Syndromes as Susceptibility Factors for Reactive Systemic AA Amyloidosis
(Nature Publishing Group, 2004)
We investigated the hypothesis that low-penetrance mutations in genes (TNFRSF1A, MEFV and NALP3/CIAS1) associated with hereditary periodic fever syndromes (HPFs) might be risk factors for AA amyloidosis among patients with ...
Characterization Of Large Rearrangements In Autosomal Dominant Polycystic Kidney Disease And The Pkd1/Tsc2 Contiguous Gene Syndrome
(Nature Publishing Group, 2008)
Large DNA rearrangements account for about 8% of disease mutations and are more common in duplicated genomic regions, where they are difficult to detect. Autosomal dominant polycystic kidney disease ( ADPKD) is caused by ...
Eular/Pres Endorsed Consensus Criteria For The Classification Of Childhood Vasculitides
(B M J Publishing Group, 2006)
Background: There has been a lack of appropriate classification criteria for vasculitis in children. Objective: To develop a widely accepted general classification for the vasculitides observed in children and specific and ...
Genetic Diagnosis By Whole Exome Capture And Massively Parallel Dna Sequencing
(Natl Acad Sciences, 2009)
Protein coding genes constitute only approximately 1% of the human genome but harbor 85% of the mutations with large effects on disease-related traits. Therefore, efficient strategies for selectively sequencing complete ...
Genetic Linkage Study Of Familial Mediterranean Fever (Fmf) To 16P13.3 And Evidence For Genetic Heterogeneity In The Turkish Population
(British Med Journal Publ Group, 1997)
Familial Mediterranean fever (FMF) is an autosomal recessive condition that is almost entirely restricted to the non-Askhenazi Jews, Arabs, Armenians, and Turks. Genetic linkage study of a large group of non-Turkish families ...
IL1RN Variation Influences Both Disease Susceptibility and Response to Recombinant Human Interleukin-1 Receptor Antagonist Therapy in Systemic Juvenile Idiopathic Arthritis
(Wiley, 2018)
Objective. To determine whether systemic juvenile idiopathic arthritis (JIA) susceptibility loci that were identified by candidate gene studies demonstrate association with systemic JIA in the largest study population ...
