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Article
Open AccessPrevalence of tissue transglutaminase antibodies and IgA deficiency are not increased in juvenile idiopathic arthritis: a case-control study
The prevalence of Celiac Disease (CD) in Juvenile Idiopathic Arthritis (JIA) has been reported to be 0.1–7% in various small studies. As a result of the limited number of research and their inconclusive result...
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Article
Newborn Screening for Biliary Atresia: a Review of Current Methods
Biliary atresia is a serious neonatal liver disease due to obstructed bile ducts that has better outcomes when detected and treated in the first 30–45 days of life. This review examines different methods to sc...
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Article
Open AccessGenomic architecture of inflammatory bowel disease in five families with multiple affected individuals
Currently, the best clinical predictor for inflammatory bowel disease (IBD) is family history. Over 163 sequence variants have been associated with IBD in genome-wide association studies, but they have weak ef...
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Article
Open AccessGenetic sharing and heritability of paediatric age of onset autoimmune diseases
Autoimmune diseases (AIDs) are polygenic diseases affecting 7–10% of the population in the Western Hemisphere with few effective therapies. Here, we quantify the heritability of paediatric AIDs (pAIDs), includ...
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Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases
A meta-analysis across ten pediatric autoimmune diseases reveals shared genetic architecture and novel susceptibility loci.
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Article
Cholangiocarcinoma and High-Grade Dysplasia in Young Patients with Primary Sclerosing Cholangitis
Cholangiocarcinoma (CCA) is very often an adulthood disease with primary sclerosing cholangitis (PSC) as one of the risk factors. It is rarely seen in the pediatric population, and when it is diagnosed before ...
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Article
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data
A new algorithm for analyzing genome sequences of family members helps identify genes associated with disease.
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Dense genoty** of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis
Anne Hinks and colleagues identify 14 new susceptibility loci for juvenile idiopathic arthritis through targeted analyses of genomic regions implicated in immune function. Their study implicates several pathwa...
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Article
Correction: Corrigendum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
Nat. Genet. 43, 246–252 (2011); published online 6 February 2011; corrected after print 11 August 2011 In the version of this article initially published, an affiliation was missing for two authors, Maria Gazo...
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Article
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
John Rioux and colleagues report results of a large genome-wide association meta-analysis and follow-up study of ulcerative colitis. They identify 29 new risk loci for this inflammatory disease and show that m...
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Article
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
Miles Parkes and colleagues report results of a large genome-wide association meta-analysis and replication study for Crohn's disease. They identify 30 new susceptibility loci for this inflammatory bowel disea...
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Article
Common variants at five new loci associated with early-onset inflammatory bowel disease
Hakon Hakonarson and colleagues report the discovery of five new regions associated with susceptibility to early-onset inflammatory bowel disease. They also identify multiple loci previously implicated in the ...
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Article
Genome-wide scan reveals association of psoriasis with IL-23 and NF-κB pathways
The Collaborative Association Study of Psoriasis, in partnership with the Genetic Association Information Network (GAIN), reports a genome-wide association study for psoriasis. They identify new replicated ass...
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Article
Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease
Hakon Hakonarson and colleagues report the identification of two new susceptibility loci for inflammatory bowel disease (IBD). One variant is near a gene encoding tumor necrosis factor receptor subfamily membe...
