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Page 1
Germline DICER1 mutations and familial cystic nephroma.
Bahubeshi A, Bal N, Rio Frio T, Hamel N, Pouchet C, Yilmaz A, Bouron-Dal Soglio D, Williams GM, Tischkowitz M, Priest JR, Foulkes WD. Bahubeshi A, et al. J Med Genet. 2010 Dec;47(12):863-6. doi: 10.1136/jmg.2010.081216. Epub 2010 Oct 29. J Med Genet. 2010. PMID: 21036787
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. 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 a pleuropulmonary blastoma.
de Kock L, Plourde F, Carter MT, Hamel N, Srivastava A, Meyn MS, Arseneau J, Bouron-Dal Soglio D, Foulkes WD. de Kock L, et al. Pediatr Blood Cancer. 2013 Dec;60(12):2091-2. doi: 10.1002/pbc.24692. Epub 2013 Jul 19. Pediatr Blood Cancer. 2013. PMID: 23868280 No abstract available.
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. 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.
High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome.
de Kock L, Wang YC, Revil T, Badescu D, Rivera B, Sabbaghian N, Wu M, Weber E, Sandoval C, Hopman SM, Merks JH, van Hagen JM, Bouts AH, Plager DA, Ramasubramanian A, Forsmark L, Doyle KL, Toler T, Callahan J, Engelenberg C, Bouron-Dal Soglio D, Priest JR, Ragoussis J, Foulkes WD. de Kock L, et al. J Med Genet. 2016 Jan;53(1):43-52. doi: 10.1136/jmedgenet-2015-103428. Epub 2015 Oct 16. J Med Genet. 2016. PMID: 26475046
Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion.
de Kock L, Geoffrion D, Rivera B, Wagener R, Sabbaghian N, Bens S, Ellezam B, Bouron-Dal Soglio D, Ordóñez J, Sacharow S, Polo Nieto JF, Guillerman RP, Vujanic GM, Priest JR, Siebert R, Foulkes WD. de Kock L, et al. Genes Chromosomes Cancer. 2018 May;57(5):223-230. doi: 10.1002/gcc.22523. Epub 2018 Feb 10. Genes Chromosomes Cancer. 2018. PMID: 29315962
DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.
Rio Frio T, Bahubeshi A, Kanellopoulou C, Hamel N, Niedziela M, Sabbaghian N, Pouchet C, Gilbert L, O'Brien PK, Serfas K, Broderick P, Houlston RS, Lesueur F, Bonora E, Muljo S, Schimke RN, Bouron-Dal Soglio D, Arseneau J, Schultz KA, Priest JR, Nguyen VH, Harach HR, Livingston DM, Foulkes WD, Tischkowitz M. Rio Frio T, et al. JAMA. 2011 Jan 5;305(1):68-77. doi: 10.1001/jama.2010.1910. JAMA. 2011. PMID: 21205968 Free PMC article.
45 results