Ling C - Search Results

1

Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis.

Guan WJ, Li JC, Liu F, Zhou J, Liu YP, Ling C, Gao YH, Li HM, Yuan JJ, Huang Y, Chen CL, Chen RC, Zhang X, Zhong NS. Guan WJ, et al. Among authors: ling c. J Thorac Dis. 2018 May;10(5):2618-2630. doi: 10.21037/jtd.2018.04.134. J Thorac Dis. 2018. PMID: 29997923 Free PMC article.

2

A Case of Novel Lamin A/C Mutation Manifesting as Atypical Progeroid Syndrome and Cardiomyopathy.

Guo X, Ling C, Liu Y, Zhang X, Zhang S. Guo X, et al. Among authors: ling c. Can J Cardiol. 2016 Sep;32(9):1166.e29-31. doi: 10.1016/j.cjca.2015.11.011. Epub 2015 Nov 19. Can J Cardiol. 2016. PMID: 27265359

3

Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome.

Ling C, Yang W, Sun H, Ge M, Ji Y, Han S, Zhang D, Zhang X. Ling C, et al. Clin Case Rep. 2018 Jun 8;6(8):1448-1451. doi: 10.1002/ccr3.1564. eCollection 2018 Aug. Clin Case Rep. 2018. PMID: 30147880 Free PMC article.

4

Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.

Ling C, Sui R, Yao F, Wu Z, Zhang X, Zhang S. Ling C, et al. BMC Med Genet. 2019 Jan 14;20(1):14. doi: 10.1186/s12881-018-0725-3. BMC Med Genet. 2019. PMID: 30642278 Free PMC article.

5

Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.

Ling C, Dai Y, Fang L, Yao F, Liu Z, Qiu Z, Cui L, Xia F, Zhao C, Zhang S, Wang K, Zhang X. Ling C, et al. Hum Mutat. 2020 Mar;41(3):668-677. doi: 10.1002/humu.23953. Epub 2019 Dec 3. Hum Mutat. 2020. PMID: 31705731 Free PMC article.

6

Recurrent Germline Mutations of CHEK2 as a New Susceptibility Gene in Patients with Pheochromocytomas and Paragangliomas.

Gao Y, Ling C, Ma X, Wang H, Cui Y, Nie M, Tong A. Gao Y, et al. Among authors: ling c. Int J Endocrinol. 2021 Sep 30;2021:1392386. doi: 10.1155/2021/1392386. eCollection 2021. Int J Endocrinol. 2021. PMID: 34630562 Free PMC article.

7

Convergence between germline and somatic mutations in pancreatic neuroendocrine tumors.

Ling C, Hong X, Xu M, Wang Y, Ma X, Cui Y, Jiang R, Cao D, Wu H, Tong A, Zhao Y, Wu W. Ling C, et al. Eur J Endocrinol. 2022 May 19;187(1):85-90. doi: 10.1530/EJE-21-0893. Eur J Endocrinol. 2022. PMID: 35521758

8

GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.

Cai C, Shi W, Zeng Z, Zhang M, Ling C, Chen L, Cai C, Zhang B, Li WD. Cai C, et al. Among authors: ling c. PLoS One. 2013 Jun 6;8(6):e65215. doi: 10.1371/journal.pone.0065215. Print 2013. PLoS One. 2013. PMID: 23762320 Free PMC article.

9

A novel heterozygous germline deletion in MSH2 gene in a five generation Chinese family with Lynch syndrome.

Wu B, Ji W, Liang S, Ling C, You Y, Xu L, Zhong ME, Xiao Y, Qiu HZ, Lu JY, Banerjee S. Wu B, et al. Among authors: ling c. Oncotarget. 2017 Jul 14;8(33):55194-55203. doi: 10.18632/oncotarget.19234. eCollection 2017 Aug 15. Oncotarget. 2017. PMID: 28903413 Free PMC article.

10

Sequence and Structure Characteristics of 22 Deletion Breakpoints in Intron 44 of the DMD Gene Based on Long-Read Sequencing.

Geng C, Tong Y, Zhang S, Ling C, Wu X, Wang D, Dai Y. Geng C, et al. Among authors: ling c. Front Genet. 2021 Apr 30;12:638220. doi: 10.3389/fgene.2021.638220. eCollection 2021. Front Genet. 2021. PMID: 34211494 Free PMC article.

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