Zhang C - Search Results

1

Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature.

Li J, Zhang C, Tian X, Zhou B, Chen X, Wang Y, Hao S, Hui L, Meng Z. Li J, et al. Among authors: zhang c. Mol Genet Genomic Med. 2024 Jan;12(1):e2304. doi: 10.1002/mgg3.2304. Epub 2023 Dec 12. Mol Genet Genomic Med. 2024. PMID: 38087819 Free PMC article. Review.

2

[The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family].

Yan Y, Hao S, Yao F, Sun Q, Zheng L, Zhang Q, Zhang C, Yang T, Huang S. Yan Y, et al. Among authors: zhang c, zhang q. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Dec;31(6):686-92. doi: 10.3760/cma.j.issn.1003-9406.2014.06.002. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014. PMID: 25449068 Chinese.

3

[Congenital central hypoventilation syndrome: analysis of PHOX2B gene mutation in a case].

Yan Y, Yi B, Liu D, Zhao F, Zhang C, Chen X, Hao S. Yan Y, et al. Among authors: zhang c. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Oct;32(5):665-9. doi: 10.3760/cma.j.issn.1003-9406.2015.05.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015. PMID: 26418987 Chinese.

4

[Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II].

Zheng L, Yan Y, Chen X, Zhang C, Zhang Q, Feng X, Hao S. Zheng L, et al. Among authors: zhang c, zhang q. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Feb 10;35(1):81-83. doi: 10.3760/cma.j.issn.1003-9406.2018.01.018. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 29419867 Chinese.

5

Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants.

Yan Y, Zhang C, Jin X, Zhang Q, Zheng L, Feng X, Hao S, Gao H, Ma X. Yan Y, et al. Among authors: zhang c, zhang q. Metab Brain Dis. 2019 Jun;34(3):733-745. doi: 10.1007/s11011-019-0387-7. Epub 2019 Feb 12. Metab Brain Dis. 2019. PMID: 30747360

6

[Identification of a novel PAX6 mutation in a sporadic case with congenital aniridia].

Zhang C, Hao S, Zhang Q, Zhou B, Liu F, Lin X, Yan Y. Zhang C, et al. Among authors: zhang q. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):616-619. doi: 10.3760/cma.j.issn.1003-9406.2019.06.022. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31055820 Chinese.

7

Evaluation of droplet digital PCR for non-invasive prenatal diagnosis of phenylketonuria.

Yan Y, Wang F, Zhang C, Jin X, Zhang Q, Feng X, Hao S, Gao H, Ma X. Yan Y, et al. Among authors: zhang c, zhang q. Anal Bioanal Chem. 2019 Nov;411(27):7115-7126. doi: 10.1007/s00216-019-02087-4. Epub 2019 Sep 4. Anal Bioanal Chem. 2019. PMID: 31485704

8

A novel LOXHD1 variant in a Chinese couple with hearing loss.

Zhang C, Hao S, Liu Y, Zhou B, Liu F, Zheng L, Ma P, Liu Q, Lin X, Yan Y, Zhang Q. Zhang C, et al. Among authors: zhang q. J Int Med Res. 2019 Dec;47(12):6082-6090. doi: 10.1177/0300060519884197. Epub 2019 Nov 10. J Int Med Res. 2019. PMID: 31709873 Free PMC article.

9

Screening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS.

Yan Y, Jin X, Wang X, Zhang C, Zhang Q, Zheng L, Feng X, Hao S, Gao H, Ma X. Yan Y, et al. Among authors: zhang c, zhang q. ACS Omega. 2020 Jan 17;5(4):1805-1812. doi: 10.1021/acsomega.9b02955. eCollection 2020 Feb 4. ACS Omega. 2020. PMID: 32039316 Free PMC article.

10

Compound heterozygous variants of the FBXO7 gene resulting in infantile-onset Parkinsonian-pyramidal syndrome in siblings of a Chinese family.

Jin X, An L, Hao S, Liu Q, Zhang Q, Wang X, Feng X, Zhang C, Cao X, Yan Y, Ma X. Jin X, et al. Among authors: zhang c, zhang q. J Clin Lab Anal. 2020 Aug;34(8):e23324. doi: 10.1002/jcla.23324. Epub 2020 Apr 10. J Clin Lab Anal. 2020. PMID: 32274857 Free PMC article.

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