Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides-Reference-Cited by-同舟云学术

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

Published:2013-09-25 Issue:4 Volume:22 Page:564-567
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Sabbaghian Nelly,Srivastava Archana,Hamel Nancy,Plourde François,Gajtko-Metera Malgorzata,Niedziela Marek,Foulkes William D

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2013215.pdf

Reference18 articles.

1. Hill DA, Ivanovich J, Priest JR et al: DICER1 mutations in familial pleuropulmonary blastoma. Science 2009; 325: 965.

2. Priest JR, McDermott MB, Bhatia S, Watterson J, Manivel JC, Dehner LP : Pleuropulmonary blastoma: a clinicopathologic study of 50 cases. Cancer 1997; 80: 147–161.

3. Bahubeshi A, Bal N, Frio TR et al: Germ-line DICER1 mutations and familial cystic nephroma. J Med Genet 2010; 47: 863–866.

4. Slade I, Bacchelli C, Davies H et al: DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. J Med Genet 2011; 48: 273–278.

5. Rio Frio T, Bahubeshi A, Kanellopoulou C et al: DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli–Leydig cell tumors. JAMA 2011; 305: 68–77.

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