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Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics: the Cohort study of TP53 carrier early onset breast cancer (COPE study).
Packwood K, Martland G, Sommerlad M, Shaw E, Moutasim K, Thomas G, Bateman AC, Jones L, Haywood L, Evans DG, Birch JM, Alsalmi OA, Henderson A, Poplawski N, Eccles DM. Packwood K, et al. Among authors: birch jm. J Pathol Clin Res. 2019 Jul;5(3):189-198. doi: 10.1002/cjp2.133. Epub 2019 May 23. J Pathol Clin Res. 2019. PMID: 31041842 Free PMC article.
MRI breast screening in high-risk women: cancer detection and survival analysis.
Evans DG, Kesavan N, Lim Y, Gadde S, Hurley E, Massat NJ, Maxwell AJ, Ingham S, Eeles R, Leach MO; MARIBS Group; Howell A, Duffy SW. Evans DG, et al. Breast Cancer Res Treat. 2014 Jun;145(3):663-72. doi: 10.1007/s10549-014-2931-9. Epub 2014 Apr 1. Breast Cancer Res Treat. 2014. PMID: 24687378
Mutations in the transcriptional repressor REST predispose to Wilms tumor.
Mahamdallie SS, Hanks S, Karlin KL, Zachariou A, Perdeaux ER, Ruark E, Shaw CA, Renwick A, Ramsay E, Yost S, Elliott A, Birch J, Capra M, Gray J, Hale J, Kingston J, Levitt G, McLean T, Sheridan E, Renwick A, Seal S, Stiller C, Sebire N, Westbrook TF, Rahman N. Mahamdallie SS, et al. Nat Genet. 2015 Dec;47(12):1471-4. doi: 10.1038/ng.3440. Epub 2015 Nov 9. Nat Genet. 2015. PMID: 26551668
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration; Rahman N. Loveday C, et al. Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13. Hum Mol Genet. 2015. PMID: 25972378 Free PMC article.
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Tatton-Brown K, et al. Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8. Am J Med Genet A. 2013. PMID: 24214728 Free article.
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
Tatton-Brown K, Hanks S, Ruark E, Zachariou A, Duarte Sdel V, Ramsay E, Snape K, Murray A, Perdeaux ER, Seal S, Loveday C, Banka S, Clericuzio C, Flinter F, Magee A, McConnell V, Patton M, Raith W, Rankin J, Splitt M, Strenger V, Taylor C, Wheeler P, Temple KI, Cole T; Childhood Overgrowth Collaboration; Douglas J, Rahman N. Tatton-Brown K, et al. Oncotarget. 2011 Dec;2(12):1127-33. doi: 10.18632/oncotarget.385. Oncotarget. 2011. PMID: 22190405 Free PMC article.
Identification of a rare polymorphism in the human TP53 promoter.
Attwooll CL, McGown G, Thorncroft M, Stewart FJ, Birch JM, Varley JM. Attwooll CL, et al. Among authors: birch jm. Cancer Genet Cytogenet. 2002 Jun;135(2):165-72. doi: 10.1016/s0165-4608(01)00649-5. Cancer Genet Cytogenet. 2002. PMID: 12127401
223 results