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1,546 results

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VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5.
Szumska D, Pieles G, Essalmani R, Bilski M, Mesnard D, Kaur K, Franklyn A, El Omari K, Jefferis J, Bentham J, Taylor JM, Schneider JE, Arnold SJ, Johnson P, Tymowska-Lalanne Z, Stammers D, Clarke K, Neubauer S, Morris A, Brown SD, Shaw-Smith C, Cama A, Capra V, Ragoussis J, Constam D, Seidah NG, Prat A, Bhattacharya S. Szumska D, et al. Among authors: kaur k. Genes Dev. 2008 Jun 1;22(11):1465-77. doi: 10.1101/gad.479408. Genes Dev. 2008. PMID: 18519639 Free PMC article.
Dissecting the genetic complexity of human 6p deletion syndromes by using a region-specific, phenotype-driven mouse screen.
Bogani D, Willoughby C, Davies J, Kaur K, Mirza G, Paudyal A, Haines H, McKeone R, Cadman M, Pieles G, Schneider JE, Bhattacharya S, Hardy A, Nolan PM, Tripodis N, Depew MJ, Chandrasekara R, Duncan G, Sharpe PT, Greenfield A, Denny P, Brown SD, Ragoussis J, Arkell RM. Bogani D, et al. Among authors: kaur k. Proc Natl Acad Sci U S A. 2005 Aug 30;102(35):12477-82. doi: 10.1073/pnas.0500584102. Epub 2005 Aug 18. Proc Natl Acad Sci U S A. 2005. PMID: 16109771 Free PMC article.
Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1.
Jaeger E, Leedham S, Lewis A, Segditsas S, Becker M, Cuadrado PR, Davis H, Kaur K, Heinimann K, Howarth K; HMPS Collaboration; East J, Taylor J, Thomas H, Tomlinson I. Jaeger E, et al. Among authors: kaur k. Nat Genet. 2012 May 6;44(6):699-703. doi: 10.1038/ng.2263. Nat Genet. 2012. PMID: 22561515 Free PMC article.
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, Kemp Z, Spain SL, Guarino E, Salguero I, Sherborne A, Chubb D, Carvajal-Carmona LG, Ma Y, Kaur K, Dobbins S, Barclay E, Gorman M, Martin L, Kovac MB, Humphray S; CORGI Consortium; WGS500 Consortium; Lucassen A, Holmes CC, Bentley D, Donnelly P, Taylor J, Petridis C, Roylance R, Sawyer EJ, Kerr DJ, Clark S, Grimes J, Kearsey SE, Thomas HJ, McVean G, Houlston RS, Tomlinson I. Palles C, et al. Among authors: kaur k. Nat Genet. 2013 Feb;45(2):136-44. doi: 10.1038/ng.2503. Epub 2012 Dec 23. Nat Genet. 2013. PMID: 23263490 Free PMC article.
Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.
Hamblin A, Wordsworth S, Fermont JM, Page S, Kaur K, Camps C, Kaisaki P, Gupta A, Talbot D, Middleton M, Henderson S, Cutts A, Vavoulis DV, Housby N, Tomlinson I, Taylor JC, Schuh A. Hamblin A, et al. Among authors: kaur k. PLoS Med. 2017 Feb 14;14(2):e1002230. doi: 10.1371/journal.pmed.1002230. eCollection 2017 Feb. PLoS Med. 2017. PMID: 28196074 Free PMC article.
Mutation burden and other molecular markers of prognosis in colorectal cancer treated with curative intent: results from the QUASAR 2 clinical trial and an Australian community-based series.
Domingo E, Camps C, Kaisaki PJ, Parsons MJ, Mouradov D, Pentony MM, Makino S, Palmieri M, Ward RL, Hawkins NJ, Gibbs P, Askautrud H, Oukrif D, Wang H, Wood J, Tomlinson E, Bark Y, Kaur K, Johnstone EC, Palles C, Church DN, Novelli M, Danielsen HE, Sherlock J, Kerr D, Kerr R, Sieber O, Taylor JC, Tomlinson I. Domingo E, et al. Among authors: kaur k. Lancet Gastroenterol Hepatol. 2018 Sep;3(9):635-643. doi: 10.1016/S2468-1253(18)30117-1. Epub 2018 Jul 2. Lancet Gastroenterol Hepatol. 2018. PMID: 30042065 Free PMC article. Clinical Trial.
DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.
Church DN, Briggs SE, Palles C, Domingo E, Kearsey SJ, Grimes JM, Gorman M, Martin L, Howarth KM, Hodgson SV; NSECG Collaborators; Kaur K, Taylor J, Tomlinson IP. Church DN, et al. Among authors: kaur k. Hum Mol Genet. 2013 Jul 15;22(14):2820-8. doi: 10.1093/hmg/ddt131. Epub 2013 Mar 24. Hum Mol Genet. 2013. PMID: 23528559 Free PMC article.
1,546 results