1
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Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
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Nature
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2011
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13.23
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2
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Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial.
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Lancet
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2011
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6.77
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3
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GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
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Science
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2013
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4.71
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4
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Frequency and spectrum of cancers in the Peutz-Jeghers syndrome.
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Clin Cancer Res
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2006
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3.81
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5
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Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome.
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N Engl J Med
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3.76
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6
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Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
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Ann Neurol
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2011
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3.52
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7
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Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
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Nat Genet
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2012
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3.04
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8
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Dysregulation of miRNA 181b in the temporal cortex in schizophrenia.
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Hum Mol Genet
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2008
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2.33
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9
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Planning the human variome project: the Spain report.
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Hum Mutat
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2009
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2.22
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10
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Innate immune activation in neutrophilic asthma and bronchiectasis.
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Thorax
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2006
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2.18
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11
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Combined analysis of three Lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers.
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Int J Cancer
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2012
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2.15
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12
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The NOD2 3020insC mutation and the risk of colorectal cancer.
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Cancer Res
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2004
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2.01
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13
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Clarithromycin targets neutrophilic airway inflammation in refractory asthma.
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Am J Respir Crit Care Med
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2007
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1.91
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14
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Genome-wide association study identifies a common variant associated with risk of endometrial cancer.
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Nat Genet
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2011
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1.84
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15
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Common variants at 6p21.1 are associated with large artery atherosclerotic stroke.
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Nat Genet
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2012
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1.81
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16
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A multicenter blinded study to evaluate KRAS mutation testing methodologies in the clinical setting.
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J Mol Diagn
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1.76
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17
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The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis.
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Hum Mol Genet
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1.73
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18
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Polymorphisms in genes of the steroid hormone biosynthesis and metabolism pathways and endometrial cancer risk.
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Cancer Epidemiol
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2010
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1.63
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19
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Relative frequency and morphology of cancers in STK11 mutation carriers.
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Gastroenterology
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2004
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1.62
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20
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Age of diagnosis of colorectal cancer in HNPCC patients is more complex than that predicted by R72P polymorphism in TP53.
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Int J Cancer
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2006
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1.60
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21
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Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
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PLoS Genet
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2010
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1.57
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22
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Transcriptional phenotypes of asthma defined by gene expression profiling of induced sputum samples.
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J Allergy Clin Immunol
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2011
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1.57
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23
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MicroRNAs miR-17 and miR-20a inhibit T cell activation genes and are under-expressed in MS whole blood.
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PLoS One
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2010
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1.49
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24
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Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis.
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Mult Scler
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2011
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1.47
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25
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BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer.
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Breast Cancer Res Treat
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2011
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1.46
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26
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Small molecular weight variants of p53 are expressed in human melanoma cells and are induced by the DNA-damaging agent cisplatin.
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Clin Cancer Res
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2008
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1.44
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27
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Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in Lynch syndrome.
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J Med Genet
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2010
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1.42
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28
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Genome-wide association meta-analysis identifies new endometriosis risk loci.
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Nat Genet
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2012
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1.42
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29
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How to use an article about genetic association: B: Are the results of the study valid?
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JAMA
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1.33
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Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography.
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J Biochem Biophys Methods
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1.30
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Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
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Ann Neurol
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2013
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1.30
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32
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Leiden Open Variation Database of the MUTYH gene.
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Hum Mutat
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2010
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1.28
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33
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Direct integrin alphavbeta6-ERK binding: implications for tumour growth.
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Oncogene
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2002
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1.25
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34
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Differential proteolytic enzyme activity in eosinophilic and neutrophilic asthma.
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Am J Respir Crit Care Med
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2005
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1.24
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35
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Demethylation by 5-aza-2'-deoxycytidine in colorectal cancer cells targets genomic DNA whilst promoter CpG island methylation persists.
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BMC Cancer
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2010
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1.24
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36
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How to use an article about genetic association: A: Background concepts.
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JAMA
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1.21
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37
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Parental prenatal smoking and risk of childhood acute lymphoblastic leukemia.
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Am J Epidemiol
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1.19
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38
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P53 in human melanoma fails to regulate target genes associated with apoptosis and the cell cycle and may contribute to proliferation.
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BMC Cancer
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2011
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1.18
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39
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Preliminary investigation of gene expression profiles in peripheral blood lymphocytes in schizophrenia.
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Schizophr Res
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1.18
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40
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Altered gene expression in the superior temporal gyrus in schizophrenia.
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BMC Genomics
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Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis.
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Nat Genet
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1.16
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42
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Decreased expression of key tumour suppressor microRNAs is associated with lymph node metastases in triple negative breast cancer.
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BMC Cancer
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43
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Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
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PLoS One
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1.16
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44
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A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
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BMC Cancer
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An X-linked haplotype of Neandertal origin is present among all non-African populations.
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Mol Biol Evol
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1.11
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46
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Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.
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Genet Med
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CDKN2A common variants and their association with melanoma risk: a population-based study.
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Cancer Res
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48
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Transcriptome sequencing revealed significant alteration of cortical promoter usage and splicing in schizophrenia.
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49
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Cytokine responses and sudden infant death syndrome: genetic, developmental, and environmental risk factors.
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J Leukoc Biol
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IGF1 is a modifier of disease risk in hereditary non-polyposis colorectal cancer.
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Int J Cancer
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51
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Microarrays--identifying molecular portraits for prostate tumors with different Gleason patterns.
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Methods Mol Med
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1.05
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52
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The RAD51 135 G>C polymorphism modifies breast cancer and ovarian cancer risk in Polish BRCA1 mutation carriers.
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Cancer Epidemiol Biomarkers Prev
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1.03
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53
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Long term transcriptional reactivation of epigenetically silenced genes in colorectal cancer cells requires DNA hypomethylation and histone acetylation.
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PLoS One
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54
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How to use an article about genetic association: C: What are the results and will they help me in caring for my patients?
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JAMA
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Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations.
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Int J Cancer
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Genome-wide association study identifies a possible susceptibility locus for endometrial cancer.
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Cancer Epidemiol Biomarkers Prev
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2012
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57
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Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial.
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Lancet Oncol
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2012
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58
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Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.
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Hum Mol Genet
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2013
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1.01
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59
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Phenotype-genotype correlations in a series of wolfram syndrome families.
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Diabetes Care
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A transcription factor map as revealed by a genome-wide gene expression analysis of whole-blood mRNA transcriptome in multiple sclerosis.
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PLoS One
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61
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CDKN2A common variant and multi-organ cancer risk--a population-based study.
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62
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Maternal folate and other vitamin supplementation during pregnancy and risk of acute lymphoblastic leukemia in the offspring.
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Int J Cancer
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Methylenetetrahydrofolate reductase polymorphisms modify BRCA1-associated breast and ovarian cancer risks.
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Breast Cancer Res Treat
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BRCA1-associated breast and ovarian cancer risks in Poland: no association with commonly studied polymorphisms.
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Breast Cancer Res Treat
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Oncostatin M (OSM) is increased in asthma with incompletely reversible airflow obstruction.
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Exp Lung Res
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Aurora-A and Cyclin D1 polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer.
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Altered gene expression in the amygdala in schizophrenia: up-regulation of genes located in the cytomatrix active zone.
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Mol Cell Neurosci
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Polymorphisms in TP53 and MDM2 combined are associated with high grade endometrial cancer.
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Gynecol Oncol
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MDM2 SNP309 T>G alone or in combination with the TP53 R72P polymorphism does not appear to influence disease expression and age of diagnosis of colorectal cancer in HNPCC patients.
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Int J Cancer
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2007
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Whole genome amplification and its impact on CGH array profiles.
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Interleukin-10 and sudden infant death syndrome.
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Genome-wide association study of endometrial cancer in E2C2.
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Hum Genet
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Can selenium levels act as a marker of colorectal cancer risk?
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The relative mRNA expression of p53 isoforms in breast cancer is associated with clinical features and outcome.
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Immune responses of airway neutrophils are impaired in asthma.
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Exp Lung Res
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Toll-like receptor (TLR) and nucleosome-binding oligomerization domain (NOD) gene polymorphisms and endometrial cancer risk.
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Altered expression of regulator of G-protein signalling 4 (RGS4) mRNA in the superior temporal gyrus in schizophrenia.
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Schizophr Res
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Inflammatory response gene polymorphisms and their relationship with colorectal cancer risk.
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BMC Cancer
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Comparison of genomic abnormalities between BRCAX and sporadic breast cancers studied by comparative genomic hybridization.
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Int J Cancer
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2005
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Buccal DNA collection: comparison of buccal swabs with FTA cards.
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Cancer Epidemiol Biomarkers Prev
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2006
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Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.
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Breast Cancer Res Treat
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IL6 G-174C associated with sudden infant death syndrome in a Caucasian Australian cohort.
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Hum Immunol
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Are myocardial infarction--associated single-nucleotide polymorphisms associated with ischemic stroke?
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Stroke
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2012
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Germline mutation and large deletion analysis of the CDKN2A and ARF genes in families with multiple melanoma or an aggregation of malignant melanoma and breast cancer.
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Int J Cancer
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2004
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DNA repair gene polymorphisms and risk of early onset colorectal cancer in Lynch syndrome.
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Cancer Epidemiol
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Gene expression analysis reveals schizophrenia-associated dysregulation of immune pathways in peripheral blood mononuclear cells.
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J Psychiatr Res
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Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk.
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Hum Genet
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Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age.
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Int J Cancer
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0.89
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The VEGF_936_C>T 3'UTR polymorphism reduces BRCA1-associated breast cancer risk in Polish women.
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Cancer Lett
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Maternal use of folic acid and other supplements and risk of childhood brain tumors.
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Cancer Epidemiol Biomarkers Prev
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Prevalence of the NOD2 3020insC mutation in aggregations of breast and lung cancer.
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Breast Cancer Res Treat
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The male excess in sudden infant deaths.
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Innate Immun
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Smoking related cancers and loci at chromosomes 15q25, 5p15, 6p22.1 and 6p21.33 in the Polish population.
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PLoS One
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Germline mutations in the CHEK2 kinase gene are associated with an increased risk of bladder cancer.
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Nucleotide excision repair gene expression after Cisplatin treatment in melanoma.
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Cancer Res
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Ethnicity, infection and sudden infant death syndrome.
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FEMS Immunol Med Microbiol
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Gene expression profiling in treatment-naive schizophrenia patients identifies abnormalities in biological pathways involving AKT1 that are corrected by antipsychotic medication.
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Int J Neuropsychopharmacol
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Frequency of the Common MYH Mutations (G382D and Y165C) in MMR Mutation Positive and Negative HNPCC Patients.
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Genetic modifiers of cancer risk in Lynch syndrome: a review.
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Fam Cancer
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Nodular prurigo of the vulva.
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Pathology
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Exposure to pesticides and the risk of childhood brain tumors.
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Cancer Causes Control
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Polymorphisms in nucleotide excision repair genes and susceptibility to colorectal cancer in the Polish population.
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Mol Biol Rep
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The 3' untranslated region C > T polymorphism of prohibitin is a breast cancer risk modifier in Polish women carrying a BRCA1 mutation.
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The influence of the Cyclin D1 870 G>A polymorphism as an endometrial cancer risk factor.
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BMC Cancer
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Identification of TPIT and other novel autoantigens in lymphocytic hypophysitis: immunoscreening of a pituitary cDNA library and development of immunoprecipitation assays.
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The expression of Dicer and Drosha in matched normal tissues, tumours and lymph node metastases in triple negative breast cancer.
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Systemic upregulation of neutrophil α-defensins and serine proteases in neutrophilic asthma.
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Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility.
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Exposure to professional pest control treatments and the risk of childhood acute lymphoblastic leukemia.
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Genetic association of refractive error and axial length with 15q14 but not 15q25 in the Blue Mountains Eye Study cohort.
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Cancer Familial Aggregation (CFA) and G446A polymorphism in ARLTS1 gene.
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Investigation of the expression of genes affecting cytomatrix active zone function in the amygdala in schizophrenia: effects of antipsychotic drugs.
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Detecting genotyping error using measures of degree of Hardy-Weinberg disequilibrium.
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Comparison of cytokine gene polymorphisms among Greek patients with invasive meningococcal disease or viral meningitis.
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Genetics of hand grip strength in mid to late life.
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Integrin beta3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk.
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Progesterone activates multiple innate immune pathways in Chlamydia trachomatis-infected endocervical cells.
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Low prevalence of germline PALB2 mutations in Australian triple-negative breast cancer.
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2012
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0.77
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152
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Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.
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J Mol Diagn
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2009
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0.76
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153
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Gene expression profiling in familial adenomatous polyposis adenomas and desmoid disease.
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Hered Cancer Clin Pract
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2007
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0.76
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154
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Smad4 haploinsufficiency: a matter of dosage.
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Pathogenetics
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2008
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0.76
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155
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Deletion Mutations in an Australian Series of HNPCC Patients.
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Hered Cancer Clin Pract
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2005
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0.76
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156
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Altered expression of the plasminogen activation pathway in peripheral blood mononuclear cells in multiple sclerosis: possible pathomechanism of matrix metalloproteinase activation.
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Mult Scler
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2013
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0.76
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157
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Ovarian cancer risk in Polish BRCA1 mutation carriers is not associated with the prohibitin 3' untranslated region polymorphism.
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BMC Cancer
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2008
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0.76
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158
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Changes in brain transcripts related to Alzheimer's disease in a model of HFE hemochromatosis are not consistent with increased Alzheimer's disease risk.
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J Alzheimers Dis
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2012
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0.76
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159
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Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition.
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Hum Genet
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2014
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0.76
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160
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Case report: familial gastric cancer and chordoma in the same family.
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Hered Cancer Clin Pract
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2005
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0.75
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161
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Regulators of global genome repair do not respond to DNA damaging therapy but correlate with survival in melanoma.
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PLoS One
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2013
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0.75
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162
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Nuclear pedigree criteria for the identification of individuals suspected to be at risk of an inherited predisposition to gastric cancer.
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Hered Cancer Clin Pract
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2004
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0.75
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163
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Intronic TP53 Germline Sequence Variants Modify the Risk in German Breast/Ovarian Cancer Families.
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Hered Cancer Clin Pract
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2004
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0.75
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164
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Have the roles of two functional polymorphisms in breast cancer, R72P in P53 and MDM2-309 in MDM2, become clearer?
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Breast Cancer Res
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2010
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0.75
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165
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Maternal consumption of coffee and tea during pregnancy and risk of childhood ALL: results from an Australian case-control study.
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Cancer Causes Control
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2010
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0.75
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166
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Dupuytren's disease and the risk of malignant neoplasms.
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Hered Cancer Clin Pract
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2014
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0.75
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167
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Breastfeeding and nutrition to 2 years of age and risk of childhood acute lymphoblastic leukemia and brain tumors.
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Nutr Cancer
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2015
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0.75
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168
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DNA and RNA analyses in detection of genetic predisposition to cancer.
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Hered Cancer Clin Pract
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2012
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0.75
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169
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Epimutations, inheritance and causes of aberrant DNA methylation in cancer.
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Hered Cancer Clin Pract
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2006
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0.75
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170
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Reply to Win and Jenkins.
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Int J Cancer
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2013
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171
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Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.
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Sci Rep
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2017
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172
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Familial association of laryngeal, lung, stomach and early-onset breast cancer.
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Breast Cancer Res Treat
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2007
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173
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Electro-oculographic and electroretinographic studies in HNPCC gene mutation carriers.
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Ophthalmic Res
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2003
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0.75
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174
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Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.
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Nat Genet
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2016
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0.75
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175
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Paternal dietary folate, B6 and B12 intake, and the risk of childhood brain tumors.
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Nutr Cancer
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2015
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0.75
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176
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Intermediate lobe immunoreactivity in a patient with suspected lymphocytic hypophysitis.
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Pituitary
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2014
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0.75
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177
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Epithelioid trophoblastic tumour simulating a high grade carcinoma.
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Pathology
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2014
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0.75
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178
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Common genetic variants in the plasminogen activation pathway are not associated with multiple sclerosis.
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Mult Scler
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2013
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0.75
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