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  • Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations.
    We conducted GWAS for three BP traits [systolic and diastolic blood pressure (SBP and DBP); hypertension (HYP)] in the Kooperative G...
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  • Human Genetics
    In case-control analysis, none of the genotype counts and the allele frequency of the four coding SNPs in JME between 130 JME proban...
    Epilepsia 46:365 (2005)
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  • Confirmation of association of the REL locus with rheumatoid arthritis susceptibility in the UK population.
    We aimed to test association of the same variants with RA in a large UK case control sample. Caucasian patients with RA were recruit...
    Ann Rheum Dis : (2009)
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  • No evidence for association of the KLF12 gene with RA in a large UK cohort of >7,000 samples.
    We tested association to SNPs at this locus in a large independent cohort of UK RA cases and controls. Two SNPs, rs1887346 and rs956...
    Ann Rheum Dis : (2009)
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  • Identification of novel candidate genes for type 2 diabetes from a genome-wide association scan in the Old Order Amish: evidence for replication from diabetes-related quantitative traits and from independent populations.
    The strongest association (P = 1.07 x 10(-5)) was for rs2237457, which is located in growth factor receptor-bound protein 10 (Grb10)...
    Diabetes 56:3053 (2007)
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  • A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function
    We performed a genome-wide association study for MPV and identified one SNP, rs342293, as having highly significant and reproducible...
    Blood 113:3831 (2009)
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  • Investigators' WorkshopPoster Session11:30 a.m.-1:30 p.m.
    Higher stage kainate-induced seizures caused dramatic dendritic beading and loss of spines within minutes, in the absence of neurona...
    Epilepsia 48:238 (2007)
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  • Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
    We report the results from two GWASs for serum markers of iron status (serum iron, serum transferrin, transferrin saturation with ir...
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  • Different WDR36 mutation pattern in Chinese patients with primary open-angle glaucoma.
    Nineteen sequence alterations were identified, and eight of them were novel including two novel nonsynonymous SNPs (L240V and I713V)...
    Mol Vis 15:646 (2009)
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  • Genome-wide Association Study of Alcohol Dependence.
    The GWAS produced 121 SNPs with nominal P < 10(-4). These, together with 19 additional SNPs from homologues of rat genes showing dif...
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  • Regulation of platelet heterogeneity: effects of thrombocytopenia on platelet volume and density.
    We have examined the effects of variable degrees of acute thrombocytopenia on platelet levels, mean platelet volume (MPV), and buoya...
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  • Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.
    We conducted a genome-wide association study (GWAS) in 277 NPC patients and 285 healthy controls within the Taiwanese population, an...
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  • Platelets in hyperthyroidism: studies on platelet counts, mean platelet volume, 111-indium-labeled platelet kinetics, and platelet-associated immunoglobulins G and M.
    We compared in 15 patients with hyperthyroidism (11 with Graves' disease, 3 with toxic adenoma, and 1 with multinodular goiter) plat...
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  • Replication of prostate cancer risk loci on 8q24, 11q13, 17q12, 19q33, and Xp11 in African Americans.
    We replicated five of the SNPs in our AA population, rs10896449 on 11q13.2 (P = 0.009), rs2735839 on 19q33.33 region, (P = 0.04), rs...
    Prostate : (2009)
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  • Evaluation of LOXL1 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma.
    The 287 unrelated exfoliation cases comprised of 171 American patients (mostly of European background) and 116 patients from 12 Euro...
    Mol Vis 14:533 (2008)
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  • Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    We identified two novel coeliac disease risk regions: 6q23.3 (OLIG3-TNFAIP3) and 2p16.1 (REL), both of which reached genome-wide sig...
    Gut 58:1078 (2009)
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  • A randomized comparison of plateletpheresis with the same donors using four blood separators at a single blood center.
    We compared the CS3000+, Amicus V 2.41, MCS Plus, and Spectra LRS V 7 Turbo regarding platelet (PLT) yield, pre- and post-procedure...
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  • SLC2A9 influences uric acid concentrations with pronounced sex-specific effects.
    We replicated these findings in three independent samples from Germany (KORA S4 and SHIP (Study of Health in Pomerania)) and Austria...
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  • A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.
    We undertook a two-stage genome-wide association study (GWAS): we followed our initial GWAS of 545 066 SNPs in 553 individuals with...
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  • Monday July 3, 200613:30–15:00Poster Session 1Genetics
    A 2714G > A (R905Q) missense mutation in exon 23 of TSC2 was identified in 25 individuals in Family A. The TSC phenotype in this...
    Epilepsia 47:85 (2007)
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