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Items: 1 to 20 of 161

1.

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.

Hum Mutat. 2011 Dec;32(12):1381-4. doi: 10.1002/humu.21600. Epub 2011 Oct 11.

PMID:
21882293
2.

Embryonal rhabdomyosarcoma of the uterine cervix: a report of 14 cases and a discussion of its unusual clinicopathological associations.

Dehner LP, Jarzembowski JA, Hill DA.

Mod Pathol. 2012 Apr;25(4):602-14. doi: 10.1038/modpathol.2011.185. Epub 2011 Dec 9.

3.

Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry.

Schultz KA, Pacheco MC, Yang J, Williams GM, Messinger Y, Hill DA, Dehner LP, Priest JR.

Gynecol Oncol. 2011 Aug;122(2):246-50. doi: 10.1016/j.ygyno.2011.03.024. Epub 2011 Apr 17.

4.

DICER1 pleuropulmonary blastoma familial tumour predisposition syndrome: What the paediatric urologist needs to know.

Faure A, Atkinson J, Bouty A, O'Brien M, Levard G, Hutson J, Heloury Y.

J Pediatr Urol. 2016 Feb;12(1):5-10. doi: 10.1016/j.jpurol.2015.08.012. Epub 2015 Sep 26. Review.

PMID:
26454454
5.

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.

J Med Genet. 2010 Dec;47(12):863-6. doi: 10.1136/jmg.2010.081216. Epub 2010 Oct 29.

PMID:
21036787
6.

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.

Hum Pathol. 2015 Jun;46(6):917-22. doi: 10.1016/j.humpath.2015.02.008. Epub 2015 Mar 5.

PMID:
25836323
7.

DICER1 mutations in an adolescent with cervical embryonal rhabdomyosarcoma (cERMS).

Tomiak E, de Kock L, Grynspan D, Ramphal R, Foulkes WD.

Pediatr Blood Cancer. 2014 Mar;61(3):568-9. doi: 10.1002/pbc.24826. Epub 2013 Oct 22. No abstract available.

PMID:
24151152
8.

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.

JAMA. 2011 Jan 5;305(1):68-77. doi: 10.1001/jama.2010.1910.

9.

Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers.

Heravi-Moussavi A, Anglesio MS, Cheng SW, Senz J, Yang W, Prentice L, Fejes AP, Chow C, Tone A, Kalloger SE, Hamel N, Roth A, Ha G, Wan AN, Maines-Bandiera S, Salamanca C, Pasini B, Clarke BA, Lee AF, Lee CH, Zhao C, Young RH, Aparicio SA, Sorensen PH, Woo MM, Boyd N, Jones SJ, Hirst M, Marra MA, Gilks B, Shah SP, Foulkes WD, Morin GB, Huntsman DG.

N Engl J Med. 2012 Jan 19;366(3):234-42. doi: 10.1056/NEJMoa1102903. Epub 2011 Dec 21.

10.

DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma.

Doros LA, Rossi CT, Yang J, Field A, Williams GM, Messinger Y, Cajaiba MM, Perlman EJ, A Schultz K, Cathro HP, Legallo RD, LaFortune KA, Chikwava KR, Faria P, Geller JI, Dome JS, Mullen EA, Gratias EJ, Dehner LP, Hill DA.

Mod Pathol. 2014 Sep;27(9):1267-80. doi: 10.1038/modpathol.2013.242. Epub 2014 Jan 31.

11.

DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome.

Doros L, Yang J, Dehner L, Rossi CT, Skiver K, Jarzembowski JA, Messinger Y, Schultz KA, Williams G, André N, Hill DA.

Pediatr Blood Cancer. 2012 Sep;59(3):558-60. doi: 10.1002/pbc.24020. Epub 2011 Dec 16.

12.

Gynecologic Manifestations of the DICER1 Syndrome.

Stewart CJ, Charles A, Foulkes WD.

Surg Pathol Clin. 2016 Jun;9(2):227-41. doi: 10.1016/j.path.2016.01.002. Epub 2016 Apr 9. Review.

PMID:
27241106
13.

Ovarian tumors related to intronic mutations in DICER1: a report from the international ovarian and testicular stromal tumor registry.

Schultz KA, Harris A, Messinger Y, Sencer S, Baldinger S, Dehner LP, Hill DA.

Fam Cancer. 2016 Jan;15(1):105-10. doi: 10.1007/s10689-015-9831-y.

14.

Somatic DICER1 gene mutation in sporadic intraocular medulloepithelioma without pleuropulmonary blastoma syndrome.

Durieux E, Descotes F, Nguyen AM, Grange JD, Devouassoux-Shisheboran M.

Hum Pathol. 2015 May;46(5):783-7. doi: 10.1016/j.humpath.2015.01.020. Epub 2015 Feb 19.

PMID:
25791583
15.

DICER1 Mutations and Differentiated Thyroid Carcinoma: Evidence of a Direct Association.

Rutter MM, Jha P, Schultz KA, Sheil A, Harris AK, Bauer AJ, Field AL, Geller J, Hill DA.

J Clin Endocrinol Metab. 2016 Jan;101(1):1-5. doi: 10.1210/jc.2015-2169. Epub 2015 Nov 10.

16.

Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides.

Sabbaghian N, Srivastava A, Hamel N, Plourde F, Gajtko-Metera M, Niedziela M, Foulkes WD.

Eur J Hum Genet. 2014 Apr;22(4):564-7. doi: 10.1038/ejhg.2013.215. Epub 2013 Sep 25.

17.

The co-occurrence of an ovarian Sertoli-Leydig cell tumor with a thyroid carcinoma is highly suggestive of a DICER1 syndrome.

Durieux E, Descotes F, Mauduit C, Decaussin M, Guyetant S, Devouassoux-Shisheboran M.

Virchows Arch. 2016 May;468(5):631-6. doi: 10.1007/s00428-016-1922-0. Epub 2016 Mar 16. Review.

PMID:
26983701
18.
19.

Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder.

Stewart DR, Messinger Y, Williams GM, Yang J, Field A, Schultz KA, Harney LA, Doros LA, Dehner LP, Hill DA.

Hum Genet. 2014 Nov;133(11):1443-50. doi: 10.1007/s00439-014-1474-9. Epub 2014 Aug 14.

20.

Hodgkin lymphoma as a novel presentation of familial DICER1 syndrome.

Kuhlen M, Hönscheid A, Schemme J, Merz H, Mauz-Körholz C, Borkhardt A, Troeger A.

Eur J Pediatr. 2016 Apr;175(4):593-7. doi: 10.1007/s00431-015-2660-z. Epub 2015 Nov 3.

PMID:
26526666

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