Lu C - Search Results

1

[Detection of pathogenic mutations in Marfan syndrome by targeted next-generation semiconductor sequencing].

Lu C, Wu W, Xiao J, Meng Y, Zhang S, Zhang X. Lu C, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Jun;30(3):301-4. doi: 10.3760/cma.j.issn.1003-9406.2013.03.011. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013. PMID: 23744319 Chinese.

2

Novel Phenotype-Genotype Correlations of Restrictive Cardiomyopathy With Myosin-Binding Protein C (MYBPC3) Gene Mutations Tested by Next-Generation Sequencing.

Wu W, Lu CX, Wang YN, Liu F, Chen W, Liu YT, Han YC, Cao J, Zhang SY, Zhang X. Wu W, et al. J Am Heart Assoc. 2015 Jul 10;4(7):e001879. doi: 10.1161/JAHA.115.001879. J Am Heart Assoc. 2015. PMID: 26163040 Free PMC article.

3

Next generation sequencing as a rapid molecular diagnosis for Marfan syndrome in a Chinese family with mutations in the fibrillin-1 gene.

Xiao Y, Liu Y, Yang K, Yang Y, Zhou X, Lu C, Xiao J, Liu F, Zhang X. Xiao Y, et al. Among authors: lu c. Clin Chim Acta. 2015 Jan 15;439:58-60. doi: 10.1016/j.cca.2014.09.034. Epub 2014 Oct 7. Clin Chim Acta. 2015. PMID: 25304743 No abstract available.

4

[Spectrum of COL1A1/2 mutations and gene diagnosis in Chinese patients with osteogenesis imperfecta].

Zhao X, Xiao J, Wang H, Ren X, Gao J, Wu Y, Lu C, Zhang X. Zhao X, et al. Among authors: lu c. Zhonghua Yi Xue Za Zhi. 2015 Nov 17;95(43):3484-9. Zhonghua Yi Xue Za Zhi. 2015. PMID: 26813269 Chinese.

5

Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome.

Li J, Wu W, Lu C, Liu Y, Wang R, Si N, Liu F, Zhou J, Zhang S, Zhang X. Li J, et al. Among authors: lu c. Clin Chim Acta. 2017 Nov;474:54-59. doi: 10.1016/j.cca.2017.08.023. Epub 2017 Aug 24. Clin Chim Acta. 2017. PMID: 28842177

6

Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.

Lu C, Wu W, Liu F, Yang K, Li J, Liu Y, Wang R, Si N, Gao P, Liu Y, Zhang S, Zhang X. Lu C, et al. J Transl Med. 2018 Aug 30;16(1):241. doi: 10.1186/s12967-018-1605-5. J Transl Med. 2018. PMID: 30165862 Free PMC article.

7

Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease.

Li J, Lu C, Wu W, Liu Y, Wang R, Si N, Meng X, Zhang S, Zhang X. Li J, et al. Among authors: lu c. Sci China Life Sci. 2019 Dec;62(12):1630-1637. doi: 10.1007/s11427-018-9491-8. Epub 2019 May 15. Sci China Life Sci. 2019. PMID: 31098894

8

[Identification of a novel TP53 germline mutation in one child with adrenocortical carcinoma].

Si N, Sun M, Lu CX, Liu YS, Qi Z, Yang W, Zhao XL, Zhang X. Si N, et al. Zhonghua Yi Xue Za Zhi. 2009 May 26;89(20):1402-4. Zhonghua Yi Xue Za Zhi. 2009. PMID: 19671334 Chinese.

9

[Mutation analysis of phenylalanine hydroxylase gene in 55 patients with phenylketonuria from Hebei province].

Lu CX, Gao X, Wang JW, Zhang M, Zhu HW, Sun J, Xiao JF, Yang W, Zhao XL, Qi Z, Zhang X. Lu CX, et al. Zhonghua Yi Xue Za Zhi. 2011 Nov 15;91(42):2971-6. Zhonghua Yi Xue Za Zhi. 2011. PMID: 22333022 Chinese.

10

An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: the use of minigene assay in splicing analysis.

Xiao Y, Yang KQ, Zhou XL, Shen YQ, Lu CX, Zhang X. Xiao Y, et al. Clin Chim Acta. 2015 Mar 10;442:84-6. doi: 10.1016/j.cca.2015.01.019. Epub 2015 Jan 28. Clin Chim Acta. 2015. PMID: 25636182 No abstract available.

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