Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith–Wiedemann syndrome and Silver–Russell syndrome-Reference-Cited by-同舟云学术

Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith–Wiedemann syndrome and Silver–Russell syndrome

Published:2013-06-27 Issue:9 Volume:58 Page:604-610
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Lee Beom Hee,Kim Gu-Hwan,Oh Tae Jeong,Kim Joo Hyun,Lee Jin-Joo,Choi Seung Hoon,Lee Joo Yeon,Kim Jae-Min,Choi In Hee,Kim Yoo-Mi,Choi Jin-Ho,Yoo Han-Wook

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg201367.pdf

Reference28 articles.

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4. Lee, M. P., DeBaun, M. R., Mitsuya, K., Galonek, H. L., Brandenburg, S., Oshimura, M. et al. Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting. Proc. Natl Acad. Sci. USA 96, 5203–5208 (1999).

5. Matsuoka, S., Edwards, M. C., Bai, C., Parker, S., Zhang, P., Baldini, A. et al. p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene. Genes Dev. 9, 650–662 (1995).

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