Genetic testing and PGD for unexplained recurrent fetal malformations with MAGEL2 gene mutation-Reference-Cited by-同舟云学术

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Genetic testing and PGD for unexplained recurrent fetal malformations with MAGEL2 gene mutation

Published:2019-05-30 Issue:7 Volume:62 Page:886-894
ISSN:1674-7305
Container-title:Science China Life Sciences
language:en
Short-container-title:Sci. China Life Sci.

Author:

Guo Wei,Nie Yanli,Yan Zhiqiang,Zhu Xiaohui,Wang Yuqian,Guan Shuo,Kuo Ying,Zhang Wenxin,Zhi Xu,Wei Yuan,Yan Liying,Qiao Jie

Publisher

Springer Science and Business Media LLC

Subject

General Agricultural and Biological Sciences,General Environmental Science,General Biochemistry, Genetics and Molecular Biology

Link

http://link.springer.com/content/pdf/10.1007/s11427-019-9541-0.pdf

Reference45 articles.

1. ACMG Board of Directors. (2012). Points to consider in the clinical application of genomic sequencing. Genet Med 8, 759–761.

2. Bischof, J.M., Stewart, C.L., and Wevrick, R. (2007). Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome. Hum Mol Genet 16, 2713–2719.

3. Bleidorn, C. (2016). Third generation sequencing: technology and its potential impact on evolutionary biodiversity research. Systemat Biodivers 14, 1–8.

4. Boycott, K.M., Rath, A., Chong, J.X., Hartley, T., Alkuraya, F.S., Baynam, G., Brookes, A.J., Brudno, M., Carracedo, A., den Dunnen, J.T., et al. (2017). International cooperation to enable the diagnosis of all rare genetic diseases. Am J Hum Genet 100, 695–705.

5. Brown, T.L., and Meloche, T.M. (2016). Exome sequencing a review of new strategies for rare genomic disease research. Genomics 108, 109–114.

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