Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours-Reference-Cited by-同舟云学术

Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours

Published:2013-04-24 Issue:12 Volume:21 Page:1369-1376
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Aury-Landas Juliette,Bougeard Gaëlle,Castel Hélène,Hernandez-Vargas Hector,Drouet Aurélie,Latouche Jean-Baptiste,Schouft Marie-Thérèse,Férec Claude,Leroux Dominique,Lasset Christine,Coupier Isabelle,Caron Olivier,Herceg Zdenko,Frebourg Thierry,Flaman Jean-Michel

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201368.pdf

Reference45 articles.

1. Li FP, Fraumeni JF : Rhabdomyosarcoma in children: epidemiologic study and identification of a familial cancer syndrome. J Natl Cancer Inst 1969; 43: 1365–1373.

2. Li FP, Fraumeni JF : Soft-tissue sarcomas, breast cancer, and other neoplasms a familial syndrome? Ann Intern Med 1969; 71: 747–752.

3. Li FP, Fraumeni JF, Mulvihill JJ et al: A cancer family syndrome in twenty-four kindreds. Cancer Res 1988; 48: 5358–5362.

4. Malkin D : Li-Fraumeni syndrome. Genes Cancer 2011; 2: 475–484.

5. Chompret A, Abel A, Stoppa-Lyonnet D et al: Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 2001; 38: 43–47.

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