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Items: 1 to 20 of 152

1.

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.

2.

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.

3.

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
4.

Novel DICER1 mutation as cause of multinodular goiter in children.

Darrat I, Bedoyan JK, Chen M, Schuette JL, Lesperance MM.

Head Neck. 2013 Dec;35(12):E369-71. doi: 10.1002/hed.23250. Epub 2013 Jun 1.

5.

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.

6.

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.

7.

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.

8.

Germline mutations of DICER1 in Chinese women with BRCA1/BRCA2-negative familial breast cancer.

Cao WM, Gao Y, Yang HJ, Xie SN, Meng XL, Pan ZW, Chen ZH, Huang J, Ye WW, Shao XY, Wang XJ.

Genet Mol Res. 2014 Dec 18;13(4):10754-60. doi: 10.4238/2014.December.18.16.

9.

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.

10.

Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours.

Sabbaghian N, Bahubeshi A, Shuen AY, Kanetsky PA, Tischkowitz MD, Nathanson KL, Foulkes WD.

BMC Res Notes. 2013 Apr 1;6:127. doi: 10.1186/1756-0500-6-127.

11.

A survey of DICER1 hotspot mutations in ovarian and testicular sex cord-stromal tumors.

Conlon N, Schultheis AM, Piscuoglio S, Silva A, Guerra E, Tornos C, Reuter VE, Soslow RA, Young RH, Oliva E, Weigelt B.

Mod Pathol. 2015 Dec;28(12):1603-12. doi: 10.1038/modpathol.2015.115. Epub 2015 Oct 2.

12.

Multinodular Goiter in children: an important pointer to a germline DICER1 mutation.

Rath SR, Bartley A, Charles A, Powers N, Baynam G, Jones T, Priest JR, Foulkes WD, Choong CS.

J Clin Endocrinol Metab. 2014 Jun;99(6):1947-8. doi: 10.1210/jc.2013-3932. Epub 2014 Mar 14. No abstract available.

PMID:
24628552
13.

Germline and somatic DICER1 mutations in a pituitary blastoma causing infantile-onset Cushing's disease.

Sahakitrungruang T, Srichomthong C, Pornkunwilai S, Amornfa J, Shuangshoti S, Kulawonganunchai S, Suphapeetiporn K, Shotelersuk V.

J Clin Endocrinol Metab. 2014 Aug;99(8):E1487-92. doi: 10.1210/jc.2014-1016. Epub 2014 May 13.

PMID:
24823459
14.

Ovarian sex cord-stromal tumors in patients with probable or confirmed germline DICER1 mutations.

Oost EE, Charles A, Choong CS, Leung YC, Salfinger S, Sonnendecker H, Tan J, Townshend S, Witkowski L, Foulkes WD, Stewart CJ.

Int J Gynecol Pathol. 2015 May;34(3):266-74. doi: 10.1097/PGP.0000000000000150.

PMID:
25844550
15.

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
16.

Biallelic DICER1 mutations occur in Wilms tumours.

Wu MK, Sabbaghian N, Xu B, Addidou-Kalucki S, Bernard C, Zou D, Reeve AE, Eccles MR, Cole C, Choong CS, Charles A, Tan TY, Iglesias DM, Goodyer PR, Foulkes WD.

J Pathol. 2013 Jun;230(2):154-64. doi: 10.1002/path.4196.

PMID:
23620094
17.

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.

J Med Genet. 2011 Apr;48(4):273-8. doi: 10.1136/jmg.2010.083790. Epub 2011 Jan 25.

PMID:
21266384
18.

High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic.

Vasickova P, Machackova E, Lukesova M, Damborsky J, Horky O, Pavlu H, Kuklova J, Kosinova V, Navratilova M, Foretova L.

BMC Med Genet. 2007 Jun 11;8:32.

19.

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
20.

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.

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