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Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic.
Ouchene L, Wilde B, Chan-Pak-Choon F, Camacho Valenzuela J, Brimo F, Witkowski L, Christofk H, Domecq C, Fu L, Weber E, Lemieux Anglin B, Netchiporouk E, Foulkes WD. Ouchene L, et al. Among authors: foulkes wd. Genes Chromosomes Cancer. 2024 Feb;63(2):e23221. doi: 10.1002/gcc.23221. Genes Chromosomes Cancer. 2024. PMID: 38682608
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: foulkes wd. 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.
Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.
de Kock L, Sabbaghian N, Plourde F, Srivastava A, Weber E, Bouron-Dal Soglio D, Hamel N, Choi JH, Park SH, Deal CL, Kelsey MM, Dishop MK, Esbenshade A, Kuttesch JF, Jacques TS, Perry A, Leichter H, Maeder P, Brundler MA, Warner J, Neal J, Zacharin M, Korbonits M, Cole T, Traunecker H, McLean TW, Rotondo F, Lepage P, Albrecht S, Horvath E, Kovacs K, Priest JR, Foulkes WD. de Kock L, et al. Among authors: foulkes wd. Acta Neuropathol. 2014 Jul;128(1):111-22. doi: 10.1007/s00401-014-1285-z. Epub 2014 May 20. Acta Neuropathol. 2014. PMID: 24839956 Free PMC article.
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: foulkes wd. 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.
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: foulkes wd. 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
Primary rhabdoid tumor of the ovary: When large cells become small cells.
Rabinovich A, Witkowski L, Shaco-Levi R, Meirovitz M, Hasselblatt M, Foulkes WD. Rabinovich A, et al. Among authors: foulkes wd. Gynecol Oncol Rep. 2015 Mar 19;12:64-6. doi: 10.1016/j.gore.2015.03.005. eCollection 2015 Apr. Gynecol Oncol Rep. 2015. PMID: 26076162 Free PMC article.
672 results