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Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer.
Timofeeva MN, Kinnersley B, Farrington SM, Whiffin N, Palles C, Svinti V, Lloyd A, Gorman M, Ooi LY, Hosking F, Barclay E, Zgaga L, Dobbins S, Martin L, Theodoratou E, Broderick P, Tenesa A, Smillie C, Grimes G, Hayward C, Campbell A, Porteous D, Deary IJ, Harris SE, Northwood EL, Barrett JH, Smith G, Wolf R, Forman D, Morreau H, Ruano D, Tops C, Wijnen J, Schrumpf M, Boot A, Vasen HF, Hes FJ, van Wezel T, Franke A, Lieb W, Schafmayer C, Hampe J, Buch S, Propping P, Hemminki K, Försti A, Westers H, Hofstra R, Pinheiro M, Pinto C, Teixeira M, Ruiz-Ponte C, Fernández-Rozadilla C, Carracedo A, Castells A, Castellví-Bel S, Campbell H, Bishop DT, Tomlinson IP, Dunlop MG, Houlston RS. Timofeeva MN, et al. Among authors: ruano d. Sci Rep. 2015 Nov 10;5:16286. doi: 10.1038/srep16286. Sci Rep. 2015. PMID: 26553438 Free PMC article.
The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects.
Rizzi TS, Arias-Vasquez A, Rommelse N, Kuntsi J, Anney R, Asherson P, Buitelaar J, Banaschewski T, Ebstein R, Ruano D, Van der Sluis S, Markunas CA, Garrett ME, Ashley-Koch AE, Kollins SH, Anastopoulos AD, Hansell NK, Wright MJ, Montgomery GW, Martin NG, Harris SE, Davies G, Tenesa A, Porteous DJ, Starr JM, Deary IJ, St Pourcain B, Davey Smith G, Timpson NJ, Evans DM, Gill M, Miranda A, Mulas F, Oades RD, Roeyers H, Rothenberger A, Sergeant J, Sonuga-Barke E, Steinhausen HC, Taylor E, Faraone SV, Franke B, Posthuma D. Rizzi TS, et al. Among authors: ruano d. Am J Med Genet B Neuropsychiatr Genet. 2011 Mar;156(2):145-57. doi: 10.1002/ajmg.b.31149. Epub 2010 Dec 16. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21302343 Free PMC article.
Increased frequency of 20q gain and copy-neutral loss of heterozygosity in mismatch repair proficient familial colorectal carcinomas.
Middeldorp A, van Eijk R, Oosting J, Forte GI, van Puijenbroek M, van Nieuwenhuizen M, Corver WE, Ruano D, Caldes T, Wijnen J, Morreau H, van Wezel T. Middeldorp A, et al. Among authors: ruano d. Int J Cancer. 2012 Feb 15;130(4):837-46. doi: 10.1002/ijc.26093. Epub 2011 Jul 15. Int J Cancer. 2012. PMID: 21445971 Free article.
Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis.
Hes FJ, Ruano D, Nieuwenhuis M, Tops CM, Schrumpf M, Nielsen M, Huijts PE, Wijnen JT, Wagner A, Gómez García EB, Sijmons RH, Menko FH, Letteboer TG, Hoogerbrugge N, Harryvan J, Kampman E, Morreau H, Vasen HF, van Wezel T. Hes FJ, et al. Among authors: ruano d. J Med Genet. 2014 Jan;51(1):55-60. doi: 10.1136/jmedgenet-2013-102000. Epub 2013 Nov 19. J Med Genet. 2014. PMID: 24253443 Free PMC article.
Whole-exome sequencing studies of parathyroid carcinomas reveal novel PRUNE2 mutations, distinctive mutational spectra related to APOBEC-catalyzed DNA mutagenesis and mutational enrichment in kinases associated with cell migration and invasion.
Yu W, McPherson JR, Stevenson M, van Eijk R, Heng HL, Newey P, Gan A, Ruano D, Huang D, Poon SL, Ong CK, van Wezel T, Cavaco B, Rozen SG, Tan P, Teh BT, Thakker RV, Morreau H. Yu W, et al. Among authors: ruano d. J Clin Endocrinol Metab. 2015 Feb;100(2):E360-4. doi: 10.1210/jc.2014-3238. Epub 2014 Nov 11. J Clin Endocrinol Metab. 2015. PMID: 25387265
157 results