Search Results - "Barclay, Ella"
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A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21
Published in Nature genetics (01-08-2007)“…Much of the variation in inherited risk of colorectal cancer (CRC) is probably due to combinations of common low risk variants. We conducted a genome-wide…”
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2
Common genetic variants at the CRAC1 ( HMPS ) locus on chromosome 15q13.3 influence colorectal cancer risk
Published in Nature genetics (01-01-2008)“…We mapped a high-penetrance gene (CRAC1; also known as HMPS) associated with colorectal cancer (CRC) in the Ashkenazi population to a 0.6-Mb region on…”
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3
Liquid-Immersion Reprocessing Effects on Filtration Efficiency of 'Single-Use' Commercial Medical Face Masks
Published in Annals of work exposures and health (18-02-2022)“…Medical masks have inferior filtration efficiency and fit to filtering facepiece respirators (FFRs) but are widely used in healthcare and the community. These…”
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4
Adult Leydig Cell Tumors of the Testis Caused by Germline Fumarate Hydratase Mutations
Published in The journal of clinical endocrinology and metabolism (01-08-2006)“…Context: Leydig cell tumors (LCTs) are the most common non-germ-cell neoplasms of the testis. LCTs are often hormonally active and can result in precocious…”
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5
A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk
Published in Nature genetics (01-11-2007)“…To identify risk variants for colorectal cancer (CRC), we conducted a genome-wide association study, genotyping 550,163 tag SNPs in 940 individuals with…”
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6
Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer
Published in Nature genetics (01-12-2008)“…Richard Houlston and colleagues identify four new susceptibility loci for colorectal cancer through a meta-analysis of genome-wide association data, followed…”
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7
The Nature of Networks: An Aesthetic Model for the Connected Condition
Published 01-01-2019“…This research abstracts a history of human-machine interaction to map the look, feel and sounds of a networked environment and what it is to exist within it…”
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Dissertation -
8
Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis
Published in Human molecular genetics (01-09-2014)“…To identify common variants influencing colorectal cancer (CRC) risk, we performed a meta-analysis of five genome-wide association studies, comprising 5626…”
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9
A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer
Published in Scientific reports (20-05-2015)“…Genome-wide association studies (GWAS) of colorectal cancer (CRC) have identified 23 susceptibility loci thus far. Analyses of previously conducted GWAS…”
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10
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3
Published in Nature genetics (01-05-2008)“…To identify colorectal cancer (CRC) susceptibility alleles, we conducted a genome-wide association study. In phase 1, we genotyped 550,163 tagSNPs in 940…”
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11
Genome‐wide association study and meta‐analysis in Northern European populations replicate multiple colorectal cancer risk loci
Published in International journal of cancer (01-02-2018)“…Genome‐wide association studies have been successful in elucidating the genetic basis of colorectal cancer (CRC), but there remains unexplained variability in…”
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12
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
Published in Nature genetics (01-04-2002)“…Uterine leiomyomata (fibroids) are common and clinically important tumors, but little is known about their etiology and pathogenesis. We previously mapped a…”
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13
Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome
Published in The Journal of pathology (01-01-2005)“…The Mendelian tumour syndromes hereditary leiomyomatosis and renal cell cancer (HLRCC) and hereditary paragangliomatosis with phaeochromocytomas (HPGL) result…”
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14
Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer
Published in Scientific reports (10-11-2015)“…Whilst common genetic variation in many non-coding genomic regulatory regions are known to impart risk of colorectal cancer (CRC), much of the heritability of…”
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15
Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway
Published in Cancer research (Chicago, Ill.) (15-11-2003)“…Colorectal carcinomas develop according to particular genetic pathways, including the chromosomal instability (CIN+), microsatellite instability (MSI+) and…”
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16
Low penetrance breast cancer predisposition SNPs are site specific
Published in Breast cancer research and treatment (01-09-2009)“…Large scale association studies have identified low penetrance susceptibility alleles that predispose to breast cancer. A locus on chromosome 8q24.21 has been…”
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Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP
Published in European journal of human genetics : EJHG (01-02-2015)“…The presence of multiple (5-100) colorectal adenomas suggests an inherited predisposition, but the genetic aetiology of this phenotype is undetermined if…”
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18
TGFBR16A/9A polymorphism is not associated with differential risk of breast cancer
Published in Breast cancer research and treatment (01-01-2010)“…A polymorphic 9-bp deletion in exon 1 of TGFBR1 (TGFBR1*6A) has been identified as a low-penetrance cancer susceptibility allele. The strongest association in…”
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19
Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer
Published in Human molecular genetics (01-12-2008)“…The common single-nucleotide polymorphism (SNP) rs3802842 at 11q23.1 has recently been reported to be associated with risk of colorectal cancer (CRC). To…”
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Evidence for a colorectal cancer susceptibility locus on chromosome 3q21–q24 from a high-density SNP genome-wide linkage scan
Published in Human molecular genetics (01-10-2006)“…To identify a novel susceptibility gene for colorectal cancer (CRC), we conducted a genome-wide linkage analysis of 69 pedigrees segregating colorectal…”
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