Cao YY - Search Results

1

[Analysis of clinical phenotype in 42 nuclear pedigrees carrying mitochondrial DNA A3243G mutation].

Ma YN, Fang F, Cao YY, Yang YL, Zou LP, Zhang Y, Wang ST, Zhu SN, Li L, Zheng XF, Pei P, Wu HR, Xiao Y, Qi Y. Ma YN, et al. Among authors: cao yy. Zhonghua Yi Xue Za Zhi. 2010 Dec 7;90(45):3184-7. Zhonghua Yi Xue Za Zhi. 2010. PMID: 21223764 Chinese.

2

Detection of eight frequently encountered point mutations in mitochondria in Chinese patients suggestive of mitochondrial encephalomyopathies.

Cao Y, Ma Y, Zhang Y, Li Y, Fang F, Wang S, Bu D, Xu Y, Pei P, Li L, Xiao Y, Wu H, Yang Y, Zou L, Qi Y. Cao Y, et al. Mitochondrion. 2010 Jun;10(4):330-4. doi: 10.1016/j.mito.2010.01.008. Epub 2010 Feb 1. Mitochondrion. 2010. PMID: 20123042

3

Clinical features of mitochondrial DNA m.3243A>G mutation in 47 Chinese families.

Ma Y, Fang F, Cao Y, Yang Y, Zou L, Zhang Y, Wang S, Zhu S, Xu Y, Pei P, Qi Y. Ma Y, et al. J Neurol Sci. 2010 Apr 15;291(1-2):17-21. doi: 10.1016/j.jns.2010.01.012. Epub 2010 Feb 9. J Neurol Sci. 2010. PMID: 20149394

4

Wild-Type Mitochondrial DNA Copy Number in Urinary Cells as a Useful Marker for Diagnosing Severity of the Mitochondrial Diseases.

Liu H, Ma Y, Fang F, Zhang Y, Zou L, Yang Y, Zhu S, Wang S, Zheng X, Pei P, Li L, Wu H, Xiao Y, Xu Y, Wang L, Cao Y, Pan H, Qi Y. Liu H, et al. PLoS One. 2013 Jun 27;8(6):e67146. doi: 10.1371/journal.pone.0067146. Print 2013. PLoS One. 2013. PMID: 23826218 Free PMC article.

5

[Analysis of SMN1 gene partial deletion of spinal muscular atrophy based on MLPA].

Zhang W, Cao Y, Song F, Qu Y, Bai J, Jin Y, Wang H. Zhang W, et al. Zhonghua Yi Xue Za Zhi. 2015 Feb 10;95(6):430-4. Zhonghua Yi Xue Za Zhi. 2015. PMID: 25916779 Chinese.

6

[Detection of homozygous deletions in spinal muscular atrophy with genomic DNA sequencing].

Cao YY, Qu YJ, Song F, Bai JL, Jin YW, Wang H, Li Y, Zhang WH. Cao YY, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Aug;30(4):410-4. doi: 10.3760/cma.j.issn.1003-9406.2013.04.007. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013. PMID: 23926006 Chinese.

7

[Screening for genetic mutations in hyperphenylalaninemia using Ion Torrent PGM sequencing].

Cao Y, Qu Y, Song F, Bai J, Jin Y, Wang H. Cao Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Feb;32(1):16-20. doi: 10.3760/cma.j.issn.1003-9406.2015.01.004. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015. PMID: 25636092 Chinese.

8

A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome.

Gao Y, Bai JL, Liu XY, Qu YJ, Cao YY, Wang JC, Jin YW, Wang H, Song F. Gao Y, et al. Among authors: cao yy. J Zhejiang Univ Sci B. 2015 Nov;16(11):957-62. doi: 10.1631/jzus.B1500080. J Zhejiang Univ Sci B. 2015. PMID: 26537214 Free PMC article.

9

X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3.

Bai J, Qu Y, Cao Y, Li Y, Zhang W, Jin Y, Wang H, Song F. Bai J, et al. Mol Med Rep. 2016 Feb;13(2):1135-40. doi: 10.3892/mmr.2015.4674. Epub 2015 Dec 10. Mol Med Rep. 2016. PMID: 26676689 Free PMC article.

10

Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing.

Cao YY, Zhang WH, Qu YJ, Bai JL, Jin YW, Wang H, Song F. Cao YY, et al. Chin Med J (Engl). 2018 Dec 20;131(24):2921-2929. doi: 10.4103/0366-6999.247198. Chin Med J (Engl). 2018. PMID: 30539904 Free PMC article.

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