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DICER1 hotspot mutations in non-epithelial gonadal tumours.
Witkowski L, Mattina J, Schönberger S, Murray MJ, Choong CS, Huntsman DG, Reis-Filho JS, McCluggage WG, Nicholson JC, Coleman N, Calaminus G, Schneider DT, Arseneau J, Stewart CJ, Foulkes WD. Witkowski L, et al. Among authors: choong cs. Br J Cancer. 2013 Nov 12;109(10):2744-50. doi: 10.1038/bjc.2013.637. Epub 2013 Oct 17. Br J Cancer. 2013. PMID: 24136150 Free PMC article.
Functional characterization of multiple DICER1 mutations in an adolescent.
Wu MK, de Kock L, Conwell LS, Stewart CJ, King BR, Choong CS, Hussain K, Sabbaghian N, MacRae IJ, Fabian MR, Foulkes WD. Wu MK, et al. Among authors: choong cs. Endocr Relat Cancer. 2016 Feb;23(2):L1-5. doi: 10.1530/ERC-15-0460. Epub 2015 Nov 6. Endocr Relat Cancer. 2016. PMID: 26545620 No abstract available.
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.
de Kock L, Rivera B, Revil T, Thorner P, Goudie C, Bouron-Dal Soglio D, Choong CS, Priest JR, van Diest PJ, Tanboon J, Wagner A, Ragoussis J, Choong PF, Foulkes WD. de Kock L, et al. Among authors: choong pf, choong cs. Br J Cancer. 2017 Jun 6;116(12):1621-1626. doi: 10.1038/bjc.2017.147. Epub 2017 May 18. Br J Cancer. 2017. PMID: 28524158 Free PMC article.
Biallelic DICER1 mutations occur in Wilms tumours.
Wu MK, Sabbaghian N, Xu B, Addidou-Kalucki S, Bernard C, Zou D, Reeve AE, Eccles MR, Cole C, Choong CS, Charles A, Tan TY, Iglesias DM, Goodyer PR, Foulkes WD. Wu MK, et al. Among authors: choong cs. J Pathol. 2013 Jun;230(2):154-64. doi: 10.1002/path.4196. J Pathol. 2013. PMID: 23620094 Free article.
Extending the phenotypes associated with DICER1 mutations.
Foulkes WD, Bahubeshi A, Hamel N, Pasini B, Asioli S, Baynam G, Choong CS, Charles A, Frieder RP, Dishop MK, Graf N, Ekim M, Bouron-Dal Soglio D, Arseneau J, Young RH, Sabbaghian N, Srivastava A, Tischkowitz MD, Priest JR. Foulkes WD, et al. Among authors: choong cs. Hum Mutat. 2011 Dec;32(12):1381-4. doi: 10.1002/humu.21600. Epub 2011 Oct 11. Hum Mutat. 2011. PMID: 21882293
Germ-line and somatic DICER1 mutations in pineoblastoma.
de Kock L, Sabbaghian N, Druker H, Weber E, Hamel N, Miller S, Choong CS, Gottardo NG, Kees UR, Rednam SP, van Hest LP, Jongmans MC, Jhangiani S, Lupski JR, Zacharin M, Bouron-Dal Soglio D, Huang A, Priest JR, Perry A, Mueller S, Albrecht S, Malkin D, Grundy RG, Foulkes WD. de Kock L, et al. Among authors: choong cs. Acta Neuropathol. 2014 Oct;128(4):583-95. doi: 10.1007/s00401-014-1318-7. Epub 2014 Jul 15. Acta Neuropathol. 2014. PMID: 25022261 Free PMC article.
A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes.
Bouron-Dal Soglio D, de Kock L, Gauci R, Sabbaghian N, Thomas E, Atkinson HC, Pachter N, Ryan S, Walsh JP, Kumarasinghe MP, Carpenter K, Aydoğan A, Stewart CJR, Foulkes WD, Choong CS. Bouron-Dal Soglio D, et al. Among authors: choong cs. Eur Thyroid J. 2018 Jan;7(1):44-50. doi: 10.1159/000481620. Epub 2017 Nov 21. Eur Thyroid J. 2018. PMID: 29594054 Free PMC article.
112 results