Yang K - Search Results

1

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. Among authors: yang k. 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.

2

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: yang k, yang y. 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.

3

A novel frameshift mutation of epithelial sodium channel β-subunit leads to Liddle syndrome in an isolated case.

Yang KQ, Lu CX, Xiao Y, Liu YX, Jiang XJ, Zhang X, Zhou XL. Yang KQ, et al. Clin Endocrinol (Oxf). 2015 Apr;82(4):611-4. doi: 10.1111/cen.12650. Epub 2015 Jan 6. Clin Endocrinol (Oxf). 2015. PMID: 25378078

4

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.

5

A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation.

Yang KQ, Lu CX, Zhang Y, Yang YK, Li JC, Lan T, Meng X, Fan P, Tian T, Wang LP, Liu YX, Zhang X, Zhou XL. Yang KQ, et al. Sci Rep. 2017 May 25;7(1):2407. doi: 10.1038/s41598-017-02455-z. Sci Rep. 2017. PMID: 28546535 Free PMC article.

6

Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome.

Yang KQ, Lu CX, Fan P, Zhang Y, Meng X, Dong XQ, Luo F, Liu YX, Zhang HM, Wu HY, Cai J, Zhang X, Zhou XL. Yang KQ, et al. Clin Exp Hypertens. 2018;40(2):107-111. doi: 10.1080/10641963.2017.1334799. Epub 2017 Jul 18. Clin Exp Hypertens. 2018. PMID: 28718682 Free article. Review.

7

Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B.

Fan P, Lu CX, Zhang D, Yang KQ, Lu PP, Zhang Y, Meng X, Hao SF, Luo F, Liu YX, Zhang HM, Song L, Cai J, Zhang X, Zhou XL. Fan P, et al. Endocr Connect. 2018 Dec;7(12):1528-1534. doi: 10.1530/EC-18-0484. Endocr Connect. 2018. PMID: 30496127 Free PMC article.

8

A novel phenotype with splicing mutation identified in a Chinese family with desminopathy.

Fan P, Lu CX, Dong XQ, Zhu D, Yang KQ, Liu KQ, Zhang D, Zhang Y, Meng X, Tan HQ, Yu LT, Dou KF, Liu YX, Zhang X, Zhou XL. Fan P, et al. Chin Med J (Engl). 2019 Jan 20;132(2):127-134. doi: 10.1097/CM9.0000000000000001. Chin Med J (Engl). 2019. PMID: 30614851 Free PMC article.

9

Truncated Epithelial Sodium Channel β Subunit Responsible for Liddle Syndrome in a Chinese Family.

Fan P, Lu CX, Yang KQ, Lu PP, Hao SF, Luo F, Zhang HM, Song L, Wu HY, Cai J, Zhang X, Zhou XL. Fan P, et al. Kidney Blood Press Res. 2019;44(5):942-949. doi: 10.1159/000500919. Epub 2019 Aug 22. Kidney Blood Press Res. 2019. PMID: 31437854 Free article.

10

Apparent mineralocorticoid excess: comprehensive overview of molecular genetics.

Lu YT, Zhang D, Zhang QY, Zhou ZM, Yang KQ, Zhou XL, Peng F. Lu YT, et al. J Transl Med. 2022 Nov 3;20(1):500. doi: 10.1186/s12967-022-03698-9. J Transl Med. 2022. PMID: 36329487 Free PMC article. Review.

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