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PubMed 21493871 Multilocus association of genetic variants in MLL, CREBBP, EP300, and TOP2A with childhood acute lymphoblastic leukemia in Hispanics from Texas. BACKGROUND: Hispanic children have both a higher incide 1.9 KB 2025-10-02 10 9
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PubMed 20080916 Promoter insertion/deletion in the IRF5 gene is highly associated with susceptibility to systemic lupus erythematosus in distinct populations, but exerts a modest effect on gene expression in peripher 1.09 KB 2025-10-02 32 3
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PubMed 19565319 Adenosine A(2A) receptor gene (ADORA2A) variants may increase autistic symptoms and anxiety in autism spectrum disorder. Autism spectrum disorders (ASDs) are heterogeneous disorders presenting with in 1.15 KB 2025-10-02 31 3
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PubMed 18397285 L1503R is a member of group I mutation and has dominant-negative effect on secretion of full-length VWF multimers: an analysis of two patients with type 2A von Willebrand disease. Type 2A von Willebra 1.61 KB 2015-11-24 12 3
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PubMed 18189233 RNASEL and RNASEL-inhibitor variation and prostate cancer risk in Afro-Caribbeans. BACKGROUND: Afro-Caribbeans from Tobago are at high risk of developing prostate cancer. This elevated risk of prostat 1.74 KB 2015-11-23 28 19
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PubMed 18166824 Genetic investigation of four meiotic genes in women with premature ovarian failure. OBJECTIVE: The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cD 1.56 KB 2015-11-23 28 5
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PubMed 17395743 Identification of PVT1 as a candidate gene for end-stage renal disease in type 2 diabetes using a pooling-based genome-wide single nucleotide polymorphism association study. To identify genetic varian 1.54 KB 2025-10-02 47 8
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PubMed 17391797 The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population. BACKGROUND/AIMS: The genetic predisposition on the 1.48 KB 2015-11-23 12 8
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PubMed 17059986 A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension. We report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 year 1.74 KB 2015-11-23 36 3
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PubMed 17003357 A haplotype-based analysis of the PTPN22 locus in type 1 diabetes. A recent addition to the list of widely confirmed type 1 diabetes risk loci is the PTPN22 gene encoding a lymphoid-specific phosphata 1.38 KB 2015-11-23 27 5
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