Search Results - "MARANIAN, Mel"
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1
Posterior vitreous detachment in absentia
Published in Eye (London) (01-02-2023)Get full text
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A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity
Published in Radiotherapy and oncology (01-05-2014)“…Abstract Background and purpose This study was designed to identify common single nucleotide polymorphisms (SNPs) associated with toxicity 2 years after…”
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CYP2D6 gene variants: association with breast cancer specific survival in a cohort of breast cancer patients from the United Kingdom treated with adjuvant tamoxifen
Published in Breast cancer research : BCR (01-01-2010)“…Tamoxifen is one of the most effective adjuvant breast cancer therapies available. Its metabolism involves the phase I enzyme, cytochrome P4502D6 (CYP2D6),…”
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4
SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice
Published in Scientific reports (15-07-2019)“…The enzyme succinate dehydrogenase (SDH) functions in the citric acid cycle and loss of function predisposes to the development of…”
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5
Saliva samples are a viable alternative to blood samples as a source of DNA for high throughput genotyping
Published in BMC medical genomics (30-05-2012)“…The increasing trend for incorporation of biological sample collection within clinical trials requires sample collection procedures which are convenient and…”
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Fine-Scale Mapping of the 5q11.2 Breast Cancer Locus Reveals at Least Three Independent Risk Variants Regulating MAP3K1
Published in American journal of human genetics (08-01-2015)“…Genome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an…”
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CYP2D6 Gene Variants and Their Association with Breast Cancer Susceptibility
Published in Cancer epidemiology, biomarkers & prevention (01-06-2011)“…The gene encoding the phase I enzyme cytochrome P4502D6 (CYP2D6) has been previously investigated for its potential predictive role in the efficacy of breast…”
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A Novel Transcriptome Approach to the Investigation of the Molecular Pathology of Vitreous and Retinal Detachment
Published in Genes (01-10-2022)“…Retinal detachment (RD) is one of the most common, sight-threatening ocular conditions requiring emergency intervention. Posterior vitreous detachment (PVD)…”
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Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer
Published in Nature genetics (01-04-2015)“…Doug Easton and colleagues report the results of a large-scale genome-wide association study of breast cancer. They discover 15 new susceptibility loci and…”
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Genome-wide association study identifies five new breast cancer susceptibility loci
Published in Nature genetics (01-06-2010)“…Douglas Easton and colleagues report a genome-wide association study for breast cancer, identifying five new susceptibility loci. Breast cancer is the most…”
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Functional Variants at the 11q13 Risk Locus for Breast Cancer Regulate Cyclin D1 Expression through Long-Range Enhancers
Published in American journal of human genetics (04-04-2013)“…Analysis of 4,405 variants in 89,050 European subjects from 41 case-control studies identified three independent association signals for…”
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CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer
Published in Endocrine-related cancer (01-02-2016)“…Candidate gene studies have reported CYP19A1 variants to be associated with endometrial cancer and with estradiol (E2) concentrations. We analyzed 2937 single…”
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Germline whole exome sequencing and large-scale replication identifies FANCM as a likely high grade serous ovarian cancer susceptibility gene
Published in Oncotarget (01-08-2017)“…We analyzed whole exome sequencing data in germline DNA from 412 high grade serous ovarian cancer (HGSOC) cases from The Cancer Genome Atlas Project and…”
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A High-Density Screen for Linkage in Multiple Sclerosis
Published in American journal of human genetics (01-09-2005)“…To provide a definitive linkage map for multiple sclerosis, we have genotyped the Illumina BeadArray linkage mapping panel (version 4) in a data set of 730…”
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15
A whole genome screen for linkage disequilibrium in multiple sclerosis confirms disease associations with regions previously linked to susceptibility
Published in Brain (London, England : 1878) (01-06-2002)“…Linkage analysis in multiplex families has provisionally identified several genomic regions where genes influencing susceptibility to multiple sclerosis are…”
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Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping
Published in Human molecular genetics (01-09-2004)“…To explore the potential value of recently developed high-density linkage mapping methods in the analysis of complex disease we have regenotyped five nuclear…”
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No evidence of a significant role for CTLA-4 in multiple sclerosis
Published in Journal of neuroimmunology (01-02-2006)“…Variation in the cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) gene plays a significant role in determining susceptibility to autoimmune thyroid disease…”
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Four single nucleotide polymorphisms from the vitamin D receptor gene in UK multiple sclerosis
Published in Journal of neurology (01-06-2004)Get full text
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SELPLG and SELP single-nucleotide polymorphisms in multiple sclerosis
Published in Neuroscience letters (13-02-2006)“…P-Selectin (SELP) and P-selectin glycoprotein ligand-1 (SELPLG) constitute a receptor/ligand complex involved in the recruitment of activated lymphocytes, a…”
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Refining the analysis of a whole genome linkage disequilibrium association map: the United Kingdom results
Published in Journal of neuroimmunology (01-10-2003)“…Individual genotyping of the 10 most promising markers identified in our previously reported screen for linkage disequilibrium (LD) in multiple sclerosis…”
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