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124 results

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Page 1
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B, Gilpin C, Castellsagué E, Silva-Smith R, Plourde F, Wu M, Saskin A, Arseneault M, Karabakhtsian RG, Reilly EA, Ueland FR, Margiolaki A, Pavlakis K, Castellino SM, Lamovec J, Mackay HJ, Roth LM, Ulbright TM, Bender TA, Georgoulias V, Longy M, Berchuck A, Tischkowitz M, Nagel I, Siebert R, Stewart CJ, Arseneau J, McCluggage WG, Clarke BA, Riazalhosseini Y, Hasselblatt M, Majewski J, Foulkes WD. Witkowski L, et al. Among authors: arseneau j. Nat Genet. 2014 May;46(5):438-43. doi: 10.1038/ng.2931. Epub 2014 Mar 23. Nat Genet. 2014. PMID: 24658002
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: arseneau j. 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.
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. Among authors: arseneau j. JAMA. 2011 Jan 5;305(1):68-77. doi: 10.1001/jama.2010.1910. JAMA. 2011. PMID: 21205968 Free PMC article.
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. Among authors: arseneau j. 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.
Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families.
Osher DJ, De Leeneer K, Michils G, Hamel N, Tomiak E, Poppe B, Leunen K, Legius E, Shuen A, Smith E, Arseneau J, Tonin P, Matthijs G, Claes K, Tischkowitz MD, Foulkes WD. Osher DJ, et al. Among authors: arseneau j. Br J Cancer. 2012 Apr 10;106(8):1460-3. doi: 10.1038/bjc.2012.87. Epub 2012 Mar 13. Br J Cancer. 2012. PMID: 22415235 Free PMC 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: arseneau j. Hum Mutat. 2011 Dec;32(12):1381-4. doi: 10.1002/humu.21600. Epub 2011 Oct 11. Hum Mutat. 2011. PMID: 21882293
Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome.
de Kock L, Druker H, Weber E, Hamel N, Traubici J, Malkin D, Arseneau J, Stewart CJ, Bouron-Dal Soglio D, Priest JR, Foulkes WD. de Kock L, et al. Among authors: arseneau j. Hum Pathol. 2015 Jun;46(6):917-22. doi: 10.1016/j.humpath.2015.02.008. Epub 2015 Mar 5. Hum Pathol. 2015. PMID: 25836323
Colonic or coelomic?
Lachapelle J, Gilbert L, Artho G, Alcindor T, Amre R, Arseneau J, Foulkes WD. Lachapelle J, et al. Among authors: arseneau j. Lancet. 2010 May 22;375(9728):1844. doi: 10.1016/S0140-6736(10)60411-4. Lancet. 2010. PMID: 20494731 No abstract available.
124 results