Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/jhg2015113.pdf
Reference57 articles.
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2. Kagami, M., Sekita, Y., Nishimura, G., Irie, M., Kato, F., Okada, M. et al. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nat. Genet. 40, 237–242 (2008).
3. Hoffmann, K. & Heller, R. Uniparental disomies 7 and 14. Best Pract. Res. Clin. Endocrinol. Metab. 25, 77–100 (2011).
4. Kagami, M., O'Sullivan, M. J., Green, A. J., Watabe, Y., Arisaka, O., Masawa, N. et al. The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers. PLoS Genet. 6, e1000992 (2010).
5. Beygo, J., Elbracht, M., de Groot, K., Begemann, M., Kanber, D., Platzer, K. et al. Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32. Eur. J. Hum. Genet. 23, 180–188 (2014).
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