Maternal age effect on the development of Prader–Willi syndrome resulting from upd(15)mat through meiosis 1 errors
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/jhg201159.pdf
Reference23 articles.
1. Cassidy, S. B. & Driscoll, D. J. Prader-Willi syndrome. Eur. J. Hum. Genet. 17, 3–13 (2009).
2. Buiting, K., Grob, S., Lich, C., Gillessen-Kaesbach, G., El-Maarri, O. & Horsthemke, B. Epimutation in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am. J. Hum. Genet. 72, 571–577 (2003).
3. Sahoo, T., del Gaudio, D., German, J. R., Shinawi, M., Peter, S. U., Person, R. E. et al. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat. Genet. 40, 719–721 (2008).
4. de Smith, A. J., Purmann, C., Walters, R. G., Ellis, R. J., Holder, S. E., VanHaelst, M. et al. A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. Hum. Mol. Genet. 18, 3257–3265 (2009).
5. Shaffer, L. G., Agan, N., Goldberg, J. D., Ledbetter, D. H., Longshore, J. W. & Cassidy, S. B. American College of Medical Genetics statement on diagnostic testing for uniparental disomy. Genet. Med. 3, 206–211 (2001).
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