Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

Author:

Lee Charles,Iafrate A John,Brothman Arthur R

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference38 articles.

1. de la Chapelle, A. et al. Pericentric inversion of human chromosomes 9 and 10. Am. J. Hum. Genet. 26, 746–766 (1974).

2. International Standing Committee on Human Cytogenetic Nomenclature. ISCN 2005: An International System for Human Cytogenetic Nomenclature (Cytogenetic & Genome Research) (eds. Shaffer, L.G. and Tommerup, N.) Ch. 7 and Table 1 (S. Karger, Basel, Switzerland, 2005).

3. Brothman, A.R. et al. Cytogenetics heteromorphisms. G-band regions that we have pondered for years. Arch. Pathol. Lab. Med. 130, 947–949 (2006).

4. Iafrate, A.J. et al. Detection of large-scale variation in the human genome. Nat. Genet. 36, 949–951 (2004).

5. Sebat, J. et al. Large-scale copy number polymorphism in the human genome. Science 305, 525–528 (2004).

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