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Toplam kayıt 27, listelenen: 1-20
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 ...
Increased Frequency Of Extremely Skewed X Chromosome Inactivation In Juvenile Idiopathic Arthritis
(Wiley-Blackwell, 2009)
Objective. Juvenile idiopathic arthritis (JIA) is a childhood rheumatic disease of unknown etiology. Two subgroups of JIA, i.e., oligoarticular and polyarticular, are thought to have an autoimmune component, and show a ...
Decreased Prevalence Of Atopy In Paediatric Patients With Familial Mediterranean Fever
(B M J Publishing Group, 2004)
Background: A number of inflammatory diseases, including familial Mediterranean fever (FMF), have been shown to be driven by a strongly dominated Th1 response, whereas the pathogenesis of atopic diseases is associated with ...
Biologic Therapy in Primary Systemic Vasculitis of the Young
(Oxford Univ Press, 2009)
Methods. This was a retrospective descriptive case series of children with PSV treated with biologic therapy between February 2002 and November 2007. Primary retrospective outcome assessment measures were: daily corticosteroid ...
An Overlap Syndrome Involving Autoimmune Hepatitis And Systemic Lupus Erythematosus In Childhood
(Baishideng Publishing Group Inc, 2007)
We report a 12 years old female patient with an overlap syndrome involving autoimmune hepatitis (AIH) and systemic lupus erythematosus (SLE). The patient presented with jaundice, hepatosplenomegaly, malaise, polyarthralgia, ...
Familial Mediterranean Fever In The 'Chuetas' Of Mallorca: A Question Of Jewish Origin Or Genetic Heterogeneity
(Nature Publishing Group, 2000)
Familial Mediterranean fever (FMF) is a hereditary disease commonly found among Jews, Armenians, Turks and Arabs. Recently, FMF was found in the 'Chuetas', a unique community on the island of Mallorca (Spain). To address ...
Tumour Necrosis Factor Alpha G -> A-238 And G -> A-308 Polymorphisms In Juvenile Idiopathic Arthritis
(Oxford Univ Press, 2002)
Objectives. To study G-->A -238 and G-->A -308 polymorphisms in the promoter region of the tumour necrosis factor (TNF) alpha gene in patients with juvenile idiopathic arthritis (JIA). We analysed whether there were any ...
A Phenocopy of Caii Deficiency: A Novel Genetic Explanation for Inherited Infantile Osteopetrosis with Distal Renal Tubular Acidosis
(British Med Journal Publ Group, 2003)
The rare bone thickening disease osteopetrosis occurs in various forms, one of which is accompanied by renal tubular acidosis (RTA), and is known as Guibaud-Vainsel of this autosomal recessive syndrome comprise oncreased ...
The Significance Of Antineutrophil Cytoplasmic Antibody In Microscopic Polyangitis And Classic Polyarteritis Nodosa
(British Med Journal Publ Group, 2001)
Aims-To describe the distribution and features of classic polyarteritis nodosa (PAN) and microscopic polyarteritis (MPA) and the importance of antineutrophil cytoplasmic antibody (ANCA) in childhood PAN. Methods-Classic ...
The Position Of The Polycystic Kidney Disease 1 (Pkd1) Gene Mutation Correlates With The Severity Of Renal Disease
(Amer Soc Nephrology, 2002)
The severity of renal cystic disease in the major form of autosomal dominant polycystic kidney disease (PKD1) is highly variable. Clinical data was analyzed from 324 mutation-characterized PKD1 patients (80 families) to ...