Li XJ - Search Results

1

Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay.

Cui YX, Xia XY, Bu Y, Zhou GH, Yang B, Lu HY, Shi YC, Pan LJ, Huang YF, Li XJ. Cui YX, et al. Among authors: li xj. Genet Test. 2008 Dec;12(4):533-6. doi: 10.1089/gte.2008.0037. Genet Test. 2008. PMID: 19072565

2

Molecular prenatal diagnosis in 2 pregnancies at risk for spondyloepiphyseal dysplasia congenita.

Xia XY, Cui YX, Huang YF, Pan LJ, Feng Y, Yang B, Li XJ, Zhu PY, Shi YC, Liang Q. Xia XY, et al. Among authors: li xj. Clin Chim Acta. 2008 Jan;387(1-2):153-7. doi: 10.1016/j.cca.2007.09.006. Epub 2007 Sep 18. Clin Chim Acta. 2008. PMID: 17920052

3

A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.

Xia XY, Cui YX, Huang YF, Pan LJ, Yang B, Wang HY, Li XJ, Shi YC, Lu HY, Zhou YC. Xia XY, et al. Among authors: li xj. Clin Chim Acta. 2008 Dec;398(1-2):148-51. doi: 10.1016/j.cca.2008.07.030. Epub 2008 Aug 5. Clin Chim Acta. 2008. PMID: 18755172

4

[AZF microdeletions are not related with recurrent spontaneous abortion].

Lu HY, Cui YX, Xia XY, Shi YC, Yang B, Shao Y, Ge YF, Yao B, Li XJ, Huang YF. Lu HY, et al. Among authors: li xj. Zhonghua Nan Ke Xue. 2008 Dec;14(12):1099-102. Zhonghua Nan Ke Xue. 2008. PMID: 19157230 Chinese.

5

A case of agonadism associated with y-chromosome rearrangement: cytogenetic and molecular studies.

Cui YX, Shi YC, Liu Q, Xia XY, Lu HY, Shao HF, Jia L, Yao B, Ge YF, Li XJ, Huang YF. Cui YX, et al. Among authors: li xj. J Androl. 2009 Nov-Dec;30(6):650-4. doi: 10.2164/jandrol.108.006353. Epub 2009 Jul 17. J Androl. 2009. PMID: 19617372 Free article.

6

A G560S mutation in alpha1 (I) collagen causes familial osteogenesis imperfecta type IV.

Cui YX, Xia XY, Shi YC, Wei L, Liang Q, Yao B, Ge YF, Huang YF, Li XJ. Cui YX, et al. Among authors: li xj. Clin Chim Acta. 2009 Nov;409(1-2):145-6. doi: 10.1016/j.cca.2009.09.008. Epub 2009 Sep 12. Clin Chim Acta. 2009. PMID: 19751715 No abstract available.

7

A girl with distinctive features of borderline high blood pressure, short stature, characteristic brachydactyly, and 11.47 Mb deletion in 12p11.21-12p12.2 by oligonucleotide array CGH.

Lu HY, Cui YX, Shi YC, Xia XY, Liang Q, Yao B, Ge YF, Li XJ, Huang YF. Lu HY, et al. Among authors: li xj. Am J Med Genet A. 2009 Oct;149A(10):2321-3. doi: 10.1002/ajmg.a.33030. Am J Med Genet A. 2009. PMID: 19764034 No abstract available.

8

A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.

Xia XY, Cui YX, Zhou YC, Zhou X, Shi YC, Wei L, Li XJ, Huang YF, Huang TT. Xia XY, et al. Among authors: li xj. Clin Chim Acta. 2009 Dec;410(1-2):39-42. doi: 10.1016/j.cca.2009.09.016. Epub 2009 Sep 19. Clin Chim Acta. 2009. PMID: 19766614

9

[Mutation analysis of NF2 gene and clinical investigation in a Chinese family with neurofibromatosis type II].

Cui YX, Xia XY, Huang TT, Wei L, Fan XB, Yao B, Ge YF, Li XJ, Huang YF. Cui YX, et al. Among authors: li xj. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Dec;27(6):688-91. doi: 10.3760/cma.j.issn.1003-9406.2010.06.020. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010. PMID: 21154335 Chinese.

10

Meiotic pairing error in an infertile male bearing reciprocal deletion of chromosome 13.

Cui YX, Wei L, Xia XY, Fan XB, Shi YC, Yao B, Ge YF, Li XJ, Huang YF. Cui YX, et al. Among authors: li xj. J Androl. 2011 Sep-Oct;32(5):473-7. doi: 10.2164/jandrol.109.009738. Epub 2010 Dec 16. J Androl. 2011. PMID: 21164148

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