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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. Among authors: cole t. Oncotarget. 2011 Dec;2(12):1127-33. doi: 10.18632/oncotarget.385. Oncotarget. 2011. PMID: 22190405 Free PMC article.
Floating-Harbor syndrome.
Patton MA, Hurst J, Donnai D, McKeown CM, Cole T, Goodship J. Patton MA, et al. Among authors: cole t. J Med Genet. 1991 Mar;28(3):201-4. doi: 10.1136/jmg.28.3.201. J Med Genet. 1991. PMID: 2051457 Free PMC article. No abstract available.
Autosomal dominant inheritance of Weaver syndrome.
Fryer A, Smith C, Rosenbloom L, Cole T. Fryer A, et al. Among authors: cole t. J Med Genet. 1997 May;34(5):418-9. doi: 10.1136/jmg.34.5.418. J Med Genet. 1997. PMID: 9152841 Free PMC article.
The UK national study of magnetic resonance imaging as a method of screening for breast cancer (MARIBS).
Leach MO, Eeles RA, Turnbull LW, Dixon AK, Brown J, Hoff RJ, Coulthard A, Dixon JM, Easton DF, Evans DG, Gilbert FJ, Hawnaur J, Hayes C, Kessar P, Lakhani S, Liney G, Moss SM, Padhani AP, Pointon LJ, Sydenham M, Walker LG, Warren RM, Haites NE, Morrison P, Cole T, Rayter Z, Donaldson A, Shere M, Rankin J, Goudie D, Steel CM, Davidson R, Chu C, Ellis I, Mackay J, Hodgson SV, Homfray T, Douglas F, Quarrell OW, Eccles DM, Gilbert FG, Crothers G, Walker CP, Jones A, Slack N, Britton P, Sheppard DG, Walsh J, Whitehouse G, Teh W, Rankin S, Boggis C, Potterton J, McLean L, Gordon PA, Rubin C; Magnetic Resonance Imaging as a Method of Screening for Breast Cancer Advisory Group. Leach MO, et al. Among authors: cole t. J Exp Clin Cancer Res. 2002 Sep;21(3 Suppl):107-14. J Exp Clin Cancer Res. 2002. PMID: 12585664
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.
Tatton-Brown K, Douglas J, Coleman K, Baujat G, Chandler K, Clarke A, Collins A, Davies S, Faravelli F, Firth H, Garrett C, Hughes H, Kerr B, Liebelt J, Reardon W, Schaefer GB, Splitt M, Temple IK, Waggoner D, Weaver DD, Wilson L, Cole T, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration. Tatton-Brown K, et al. Among authors: cole t. J Med Genet. 2005 Apr;42(4):307-13. doi: 10.1136/jmg.2004.027755. J Med Genet. 2005. PMID: 15805156 Free PMC article.
1,983 results