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DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome.
Slade I, Bacchelli C, Davies H, Murray A, Abbaszadeh F, Hanks S, Barfoot R, Burke A, Chisholm J, Hewitt M, Jenkinson H, King D, Morland B, Pizer B, Prescott K, Saggar A, Side L, Traunecker H, Vaidya S, Ward P, Futreal PA, Vujanic G, Nicholson AG, Sebire N, Turnbull C, Priest JR, Pritchard-Jones K, Houlston R, Stiller C, Stratton MR, Douglas J, Rahman N. Slade I, et al. Among authors: priest jr. J Med Genet. 2011 Apr;48(4):273-8. doi: 10.1136/jmg.2010.083790. Epub 2011 Jan 25. J Med Genet. 2011. PMID: 21266384
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. Among authors: priest jr. 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
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: priest jr. JAMA. 2011 Jan 5;305(1):68-77. doi: 10.1001/jama.2010.1910. JAMA. 2011. PMID: 21205968 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. Among authors: priest jr. 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. Among authors: priest jr. Genes Chromosomes Cancer. 2018 May;57(5):223-230. doi: 10.1002/gcc.22523. Epub 2018 Feb 10. Genes Chromosomes Cancer. 2018. PMID: 29315962
Imaging of DICER1 syndrome.
Guillerman RP, Foulkes WD, Priest JR. Guillerman RP, et al. Among authors: priest jr. Pediatr Radiol. 2019 Oct;49(11):1488-1505. doi: 10.1007/s00247-019-04429-x. Epub 2019 Oct 16. Pediatr Radiol. 2019. PMID: 31620849 Review.
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: priest jr. 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.
Clinical Outcomes and Complications of Pituitary Blastoma.
Liu APY, Kelsey MM, Sabbaghian N, Park SH, Deal CL, Esbenshade AJ, Ploner O, Peet A, Traunecker H, Ahmed YHE, Zacharin M, Tiulpakov A, Lapshina AM, Walter AW, Dutta P, Rai A, Korbonits M, de Kock L, Nichols KE, Foulkes WD, Priest JR. Liu APY, et al. Among authors: priest jr. J Clin Endocrinol Metab. 2021 Jan 23;106(2):351-363. doi: 10.1210/clinem/dgaa857. J Clin Endocrinol Metab. 2021. PMID: 33236116 Free PMC article.
146 results