Chromosome 21 and Down syndrome: from genomics to pathophysiology-Reference-Cited by-同舟云学术

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Chromosome 21 and Down syndrome: from genomics to pathophysiology

Published:2004-10 Issue:10 Volume:5 Page:725-738
ISSN:1471-0056
Container-title:Nature Reviews Genetics
language:en
Short-container-title:Nat Rev Genet

Author:

Antonarakis Stylianos E.,Lyle Robert,Dermitzakis Emmanouil T.,Reymond Alexandre,Deutsch Samuel

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

http://www.nature.com/articles/nrg1448.pdf

Reference98 articles.

1. Hsu, L. Y. in Genetic Disorders and the Fetus (ed. Milunsky, A.) 179–248 (Johns Hopkins Univ. Press, Baltimore, 1998).

2. Bailey, J. A. et al. Recent segmental duplications in the human genome. Science 297, 1003–1007 (2002).

3. Pentao, L., Wise, C. A., Chinault, A. C., Patel, P. I. & Lupski, J. R. Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nature Genet. 2, 292–300 (1992).

4. de Mollerat, X. J. et al. A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum. Mol. Genet. 12, 1959–1971 (2003).

5. Snijders, A. M. et al. Assembly of microarrays for genome-wide measurement of DNA copy number. Nature Genet. 29, 263–264 (2001).

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