Search Results - "Juul, T"
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1
High export of dissolved silica from the Greenland Ice Sheet
Published in Geophysical research letters (16-09-2016)“…Silica is an essential element for marine life and plays a key role in the biogeochemistry of the ocean. Glacial activity stimulates rock weathering,…”
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2
Prospective evaluation of transanal irrigation for fecal incontinence and constipation
Published in Techniques in coloproctology (01-05-2017)“…Background The aim of the present study was to evaluate the effect of transanal irrigation on bowel function and quality of life in a prospective cohort of…”
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3
The risk of extra‐colonic, extra‐endometrial cancer in the Lynch syndrome
Published in International journal of cancer (15-07-2008)“…Persons with the Lynch syndrome (LS) are at high risk for cancer, including cancers of the small bowel, stomach, upper urologic tract (renal pelvis and…”
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4
Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers
Published in European journal of human genetics : EJHG (01-07-2016)“…Many suspected Lynch Syndrome (sLS) patients who lack mismatch repair (MMR) germline gene variants and MLH1 or MSH2 hypermethylation are currently explained by…”
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5
Validation of the English translation of the low anterior resection syndrome score
Published in Colorectal disease (01-10-2015)“…Aim Many patients having anterior resection for rectal cancer suffer from severe long‐term bowel dysfunction, known as low anterior resection syndrome (LARS)…”
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6
Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer
Published in European journal of human genetics : EJHG (01-08-2015)“…Germline variants affecting the exonuclease domains of POLE and POLD1 predispose to multiple colorectal adenomas and/or colorectal cancer (CRC). The aim of…”
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7
Glacial meltwater and primary production are drivers of strong CO2 uptake in fjord and coastal waters adjacent to the Greenland Ice Sheet
Published in Biogeosciences (21-04-2015)“…The Greenland Ice Sheet releases large amounts of freshwater, which strongly influences the physical and chemical properties of the adjacent fjord systems and…”
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8
The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material
Published in European journal of human genetics : EJHG (01-03-2020)“…Germline variants in the DNA mismatch repair (MMR) gene PMS2 cause 1-14% of all Lynch Syndrome cancers. Correct variant analysis of PMS2 is complex due to the…”
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9
A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants
Published in Scientific reports (31-05-2021)“…Individuals with Lynch syndrome (LS), have an increased risk of developing cancer. Common genetic variants of telomerase reverse transcriptase (TERT) have been…”
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10
An Updated View on Water Masses on the pan‐West Greenland Continental Shelf and Their Link to Proglacial Fjords
Published in Journal of geophysical research. Oceans (01-02-2020)“…The accelerated melt of the Greenland Ice Sheet has been linked to a sudden increase in the presence of warm subsurface coastal water in west Greenland. Yet…”
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11
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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12
Dutch validation of the low anterior resection syndrome score
Published in Colorectal disease (01-10-2018)“…Aim The aim of this study was to validate the Dutch translation of the low anterior resection syndrome (LARS) score in a population of Dutch rectal cancer…”
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13
Distinct Patterns of Somatic Mosaicism in the APC Gene in Neoplasms From Patients With Unexplained Adenomatous Polyposis
Published in Gastroenterology (New York, N.Y. 1943) (01-02-2017)“…We investigated the presence and patterns of mosaicism in the APC gene in patients with colon neoplasms not associated with any other genetic variants; we…”
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14
Multidecadal Water Mass Dynamics on the West Greenland Shelf
Published in Journal of geophysical research. Oceans (01-07-2022)“…The waters on the West Greenland continental shelf and slope play an important role in the global climate system with their link to the subpolar North Atlantic…”
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15
Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of lynch syndrome
Published in Human mutation (01-07-2012)“…Heterozygous germline mutations in the mismatch repair gene PMS2 predispose carriers for Lynch syndrome, an autosomal dominant predisposition to cancer. Here,…”
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16
Validation and Implementation of BRCA1/2 Variant Screening in Ovarian Tumor Tissue
Published in The Journal of molecular diagnostics : JMD (01-09-2018)“…BRCA1/2 variant analysis in tumor tissue could streamline the referral of patients with epithelial ovarian, fallopian tube, or primary peritoneal cancer to…”
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Enrichment of Low Penetrance Susceptibility Loci in a Dutch Familial Colorectal Cancer Cohort
Published in Cancer epidemiology, biomarkers & prevention (01-11-2009)“…Recent genome-wide association studies have identified several loci that confer an increased risk of colorectal cancer (CRC). We studied the role of the…”
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Comment on 'The TAPE score'
Published in Colorectal disease (01-06-2014)Get full text
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19
Spatial and temporal distribution of planktonic protists in the East Greenland fjord and offshore waters
Published in Marine ecology. Progress series (Halstenbek) (28-10-2015)“…Summer planktonic protist assemblages (>20 μm) were investigated in the East Greenland Young Sound fjord and offshore waters between 2009 and 2012. Samples…”
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Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling
Published in PloS one (31-01-2013)“…The bulk of familial breast cancer risk (∼70%) cannot be explained by mutations in the known predisposition genes, primarily BRCA1 and BRCA2. Underlying…”
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