Lei Y - Search Results

1

Variants identified in PTK7 associated with neural tube defects.

Lei Y, Kim SE, Chen Z, Cao X, Zhu H, Yang W, Shaw GM, Zheng Y, Zhang T, Wang HY, Finnell RH. Lei Y, et al. Mol Genet Genomic Med. 2019 Apr;7(4):e00584. doi: 10.1002/mgg3.584. Epub 2019 Jan 28. Mol Genet Genomic Med. 2019. PMID: 30689296 Free PMC article.

2

A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly.

Chen Y, Lei YP, Zheng HX, Wang W, Cheng HB, Zhang J, Wang HY, Jin L, Li H. Chen Y, et al. Among authors: lei yp. Genet Test Mol Biomarkers. 2009 Jun;13(3):295-300. doi: 10.1089/gtmb.2008.0132. Genet Test Mol Biomarkers. 2009. PMID: 19473076

3

A novel 15bp micro-duplication in SF-1 gene showing diverse phenotypic spectrum in a Chinese family.

Li H, Choy KW, Lei YP, Wang W, Wang HY, Chen Y. Li H, et al. Among authors: lei yp. J Matern Fetal Neonatal Med. 2011 Jan;24(1):132-6. doi: 10.3109/14767051003678184. Epub 2010 Nov 25. J Matern Fetal Neonatal Med. 2011. PMID: 20350242 Free article.

4

VANGL2 mutations in human cranial neural-tube defects.

Lei YP, Zhang T, Li H, Wu BL, Jin L, Wang HY. Lei YP, et al. N Engl J Med. 2010 Jun 10;362(23):2232-5. doi: 10.1056/NEJMc0910820. N Engl J Med. 2010. PMID: 20558380 No abstract available.

5

Global DNA hypomethylation is associated with NTD-affected pregnancy: A case-control study.

Chen X, Guo J, Lei Y, Zou J, Lu X, Bao Y, Wu L, Wu J, Zheng X, Shen Y, Wu BL, Zhang T. Chen X, et al. Among authors: lei y. Birth Defects Res A Clin Mol Teratol. 2010 Jul;88(7):575-81. doi: 10.1002/bdra.20670. Birth Defects Res A Clin Mol Teratol. 2010. PMID: 20641100

6

Identification of novel rare mutations of DACT1 in human neural tube defects.

Shi Y, Ding Y, Lei YP, Yang XY, Xie GM, Wen J, Cai CQ, Li H, Chen Y, Zhang T, Wu BL, Jin L, Chen YG, Wang HY. Shi Y, et al. Among authors: lei yp. Hum Mutat. 2012 Oct;33(10):1450-5. doi: 10.1002/humu.22121. Epub 2012 Jun 19. Hum Mutat. 2012. PMID: 22610794

7

Mutations in the COPII vesicle component gene SEC24B are associated with human neural tube defects.

Yang XY, Zhou XY, Wang QQ, Li H, Chen Y, Lei YP, Ma XH, Kong P, Shi Y, Jin L, Zhang T, Wang HY. Yang XY, et al. Among authors: lei yp. Hum Mutat. 2013 Aug;34(8):1094-101. doi: 10.1002/humu.22338. Epub 2013 May 13. Hum Mutat. 2013. PMID: 23592378

8

Mutations in planar cell polarity gene SCRIB are associated with spina bifida.

Lei Y, Zhu H, Duhon C, Yang W, Ross ME, Shaw GM, Finnell RH. Lei Y, et al. PLoS One. 2013 Jul 26;8(7):e69262. doi: 10.1371/journal.pone.0069262. Print 2013. PLoS One. 2013. PMID: 23922697 Free PMC article.

9

Identification of novel CELSR1 mutations in spina bifida.

Lei Y, Zhu H, Yang W, Ross ME, Shaw GM, Finnell RH. Lei Y, et al. PLoS One. 2014 Mar 14;9(3):e92207. doi: 10.1371/journal.pone.0092207. eCollection 2014. PLoS One. 2014. PMID: 24632739 Free PMC article.

10

Rare LRP6 variants identified in spina bifida patients.

Lei Y, Fathe K, McCartney D, Zhu H, Yang W, Ross ME, Shaw GM, Finnell RH. Lei Y, et al. Hum Mutat. 2015 Mar;36(3):342-9. doi: 10.1002/humu.22750. Hum Mutat. 2015. PMID: 25546815 Free PMC article.

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