Wu LQ - Search Results

1

[Cornelia de Lange syndrome: report of a case and the review of literature on 17 cases].

Hei MY, Chen J, Wu LQ, Yu B, Tan YJ, Zhao LL. Hei MY, et al. Among authors: wu lq. Zhonghua Er Ke Za Zhi. 2012 Aug;50(8):606-11. Zhonghua Er Ke Za Zhi. 2012. PMID: 23158739 Review. Chinese.

2

[Molecular analysis of IDS gene and prenatal diagnosis in a Chinese family with mucopolysaccharidosis type II].

Jia B, Xue JJ, Liang DS, Wu LQ. Jia B, et al. Among authors: wu lq. Zhonghua Er Ke Za Zhi. 2009 Feb;47(2):109-13. Zhonghua Er Ke Za Zhi. 2009. PMID: 19573456 Chinese.

3

Mutation analysis in Chinese patients with Cornelia de Lange syndrome.

Zhong Q, Liang D, Liu J, Xue J, Wu L. Zhong Q, et al. Genet Test Mol Biomarkers. 2012 Sep;16(9):1130-4. doi: 10.1089/gtmb.2011.0383. Epub 2012 Aug 2. Genet Test Mol Biomarkers. 2012. PMID: 22857006 Free PMC article.

4

Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature.

Li Z, Liu J, Li H, Peng Y, Lv W, Long Z, Liang D, Wu L. Li Z, et al. Gene. 2013 Dec 1;531(2):502-5. doi: 10.1016/j.gene.2013.09.006. Epub 2013 Sep 12. Gene. 2013. PMID: 24035902 Review.

5

Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.

Mei L, Liang D, Huang Y, Pan Q, Wu L. Mei L, et al. Gene. 2015 Jan 25;555(2):476-80. doi: 10.1016/j.gene.2014.11.033. Epub 2014 Nov 18. Gene. 2015. PMID: 25447906

6

[Etiology and diagnosis of intellectual disability].

Yang P, Gui BH, Wu LQ. Yang P, et al. Among authors: wu lq. Zhongguo Dang Dai Er Ke Za Zhi. 2015 Jun;17(6):543-8. Zhongguo Dang Dai Er Ke Za Zhi. 2015. PMID: 26108310 Free article. Chinese.

7

De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.

Yang P, Tan H, Xia Y, Yu Q, Wei X, Guo R, Peng Y, Chen C, Li H, Mei L, Huang Y, Liang D, Wu L. Yang P, et al. Am J Med Genet A. 2016 Jun;170(6):1613-21. doi: 10.1002/ajmg.a.37634. Epub 2016 Mar 30. Am J Med Genet A. 2016. PMID: 27028180 Review.

8

[Tissue heterogeneity analysis of CGG-repeat mutation in two fragile X affected male fetuses].

Huang W, Luo SY, Du Q, Yang P, Tan H, Wu LQ, Duan RH. Huang W, et al. Among authors: wu lq. Zhonghua Er Ke Za Zhi. 2016 Apr;54(4):287-9. doi: 10.3760/cma.j.issn.0578-1310.2016.04.012. Zhonghua Er Ke Za Zhi. 2016. PMID: 27055429 Chinese.

9

Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.

Hei M, Gao X, Wu L. Hei M, et al. BMC Pediatr. 2018 Feb 16;18(1):64. doi: 10.1186/s12887-018-1004-3. BMC Pediatr. 2018. PMID: 29452578 Free PMC article.

10

Truncating mutations of HIBCH tend to cause severe phenotypes in cases with HIBCH deficiency: a case report and brief literature review.

Tan H, Chen X, Lv W, Linpeng S, Liang D, Wu L. Tan H, et al. J Hum Genet. 2018 Jul;63(7):851-855. doi: 10.1038/s10038-018-0461-8. Epub 2018 Apr 27. J Hum Genet. 2018. PMID: 29703962

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