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Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour.
Gerrish A, Stone E, Clokie S, Ainsworth JR, Jenkinson H, McCalla M, Hitchcott C, Colmenero I, Allen S, Parulekar M, Cole T. Gerrish A, et al. Among authors: cole t. Br J Ophthalmol. 2019 Feb 11;103(5):721-4. doi: 10.1136/bjophthalmol-2018-313005. Online ahead of print. Br J Ophthalmol. 2019. PMID: 30745306 Free PMC article.
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Mégarbané A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM Jr, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER. Aligianis IA, et al. Nat Genet. 2005 Mar;37(3):221-3. doi: 10.1038/ng1517. Nat Genet. 2005. PMID: 15696165
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
Andrews KA, Ascher DB, Pires DEV, Barnes DR, Vialard L, Casey RT, Bradshaw N, Adlard J, Aylwin S, Brennan P, Brewer C, Cole T, Cook JA, Davidson R, Donaldson A, Fryer A, Greenhalgh L, Hodgson SV, Irving R, Lalloo F, McConachie M, McConnell VPM, Morrison PJ, Murday V, Park SM, Simpson HL, Snape K, Stewart S, Tomkins SE, Wallis Y, Izatt L, Goudie D, Lindsay RS, Perry CG, Woodward ER, Antoniou AC, Maher ER. Andrews KA, et al. Among authors: cole t. J Med Genet. 2018 Jun;55(6):384-394. doi: 10.1136/jmedgenet-2017-105127. Epub 2018 Jan 31. J Med Genet. 2018. PMID: 29386252 Free PMC article.
Effect of BRCA Mutations on Metastatic Relapse and Cause-specific Survival After Radical Treatment for Localised Prostate Cancer.
Castro E, Goh C, Leongamornlert D, Saunders E, Tymrakiewicz M, Dadaev T, Govindasami K, Guy M, Ellis S, Frost D, Bancroft E, Cole T, Tischkowitz M, Kennedy MJ, Eason J, Brewer C, Evans DG, Davidson R, Eccles D, Porteous ME, Douglas F, Adlard J, Donaldson A, Antoniou AC, Kote-Jarai Z, Easton DF, Olmos D, Eeles R. Castro E, et al. Among authors: cole t. Eur Urol. 2015 Aug;68(2):186-93. doi: 10.1016/j.eururo.2014.10.022. Epub 2014 Nov 6. Eur Urol. 2015. PMID: 25454609
1,981 results