Chen Q - Search Results

1

[Analysis of TBX19 gene variant in a child with congenital isolated adrenocorticotropic hormone deficiency].

Wu S, Chen Q, Shen L, Wei H, Chen Y. Wu S, et al. Among authors: chen q, chen y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jan 10;38(1):59-62. doi: 10.3760/cma.j.cn511374-20191107-00563. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 33423260 Chinese.

2

[Analysis of clinical features and GALNS gene mutation in a patient with mucopolysaccharidosis type IV A].

Chen Q, Chen Y, Liu X, Wei H. Chen Q, et al. Among authors: chen y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):232-235. doi: 10.3760/cma.j.issn.1003-9406.2017.02.018. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 28397226 Chinese.

3

[Genetic analysis of a child with fructose-1, 6 bisphosphatase deficiency].

Wu S, Chen Q, Liu F, Chen Y, Wei H. Wu S, et al. Among authors: chen q, chen y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Mar 10;36(3):246-248. doi: 10.3760/cma.j.issn.1003-9406.2019.03.013. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 30835356 Chinese.

4

[Clinical and genetic analysis of a case of dihydrolipoamide dehydrogenase deficiency caused by novel variant of DLD gene].

Wu S, Chen Y, Chen Q, Shen L, Wei H. Wu S, et al. Among authors: chen q, chen y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Dec 10;37(12):1356-1359. doi: 10.3760/cma.j.cn511374-20191223-00656. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 33306821 Chinese.

5

A novel stop-loss DAX1 variant affecting its protein-interaction with SF1 precedes the adrenal hypoplasia congenital with rare spontaneous precocious puberty and elevated hypothalamic-pituitary-gonadal/adrenal axis responses.

Yang H, Wei H, Shen L, Kumar C S, Chen Q, Chen Y, Kumar SA. Yang H, et al. Among authors: chen q, chen y. Eur J Med Genet. 2021 May;64(5):104192. doi: 10.1016/j.ejmg.2021.104192. Epub 2021 Mar 23. Eur J Med Genet. 2021. PMID: 33766795

6

[Clinical and genetic analysis of an infant with aldosterone synthase deficiency].

Yang H, Chen Q, Zhang L, Cui Y, Wei H. Yang H, et al. Among authors: chen q. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Sep 10;38(9):865-868. doi: 10.3760/cma.j.cn511374-20200302-00121. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 34487532 Chinese.

7

A novel missense COL10A1 mutation: c.2020G>A; p. Gly674Arg linked with the bowed legs stature in the Schmid metaphyseal chondrodysplasia-affected Chinese lineage.

Chen Q, Wu SN, Chen YX, C SK, Zhang L, Wei HY, Kumar SA. Chen Q, et al. Among authors: chen yx. Bone Rep. 2019 Dec 13;12:100240. doi: 10.1016/j.bonr.2019.100240. eCollection 2020 Jun. Bone Rep. 2019. PMID: 31921940 Free PMC article.

8

Epimutation of MMACHC compound to a genetic mutation in cblC cases.

Zhang X, Chen Q, Song Y, Guo P, Wang Y, Luo S, Zhang Y, Zhou C, Li D, Chen Y, Wei H. Zhang X, et al. Among authors: chen q, chen y. Mol Genet Genomic Med. 2021 Jun;9(6):e1625. doi: 10.1002/mgg3.1625. Epub 2021 May 12. Mol Genet Genomic Med. 2021. PMID: 33982424 Free PMC article.

9

Clinical, Biochemical, Molecular, and Outcome Features of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency in 10 Chinese Patients.

Wu S, Shen L, Chen Q, Gong C, Yang Y, Wei H, Cao B, Chen Y. Wu S, et al. Among authors: chen q, chen y. Front Genet. 2022 Mar 4;12:816779. doi: 10.3389/fgene.2021.816779. eCollection 2021. Front Genet. 2022. PMID: 35308163 Free PMC article.

10

[Protective effect of vitamin A on residual pancreatic β cell function in children with type 1 diabetes mellitus].

Chen YX, Chen Q, Zhang YX, Liu F, Yang HH, Wu SN, Wei HY. Chen YX, et al. Among authors: chen q. Zhongguo Dang Dai Er Ke Za Zhi. 2018 Dec;20(12):1020-1023. doi: 10.7499/j.issn.1008-8830.2018.12.008. Zhongguo Dang Dai Er Ke Za Zhi. 2018. PMID: 30572991 Free PMC article. Chinese.

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