Chang G - Search Results

1

Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature.

Li N, Chang G, Xu Y, Ding Y, Li G, Yu T, Yao R, Li J, Shen Y, Wang X, Wang J. Li N, et al. Among authors: chang g. Am J Med Genet A. 2017 Dec;173(12):3189-3194. doi: 10.1002/ajmg.a.38473. Epub 2017 Sep 25. Am J Med Genet A. 2017. PMID: 28944580

2

[A boy with Meier-Gorlin syndrome carrying a novel ORC6 mutation and uniparental disomy of chromosome 16].

Li J, Ding Y, Chang G, Cheng Q, Li X, Wang J, Wang X, Shen Y. Li J, et al. Among authors: chang g. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):68-72. doi: 10.3760/cma.j.issn.1003-9406.2017.01.016. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 28186598 Chinese.

3

Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency.

Li N, Chang G, Xu Y, Ding Y, Li G, Yu T, Qing Y, Li J, Shen Y, Wang J, Wang X. Li N, et al. Among authors: chang g. Int J Mol Sci. 2017 Apr 18;18(4):857. doi: 10.3390/ijms18040857. Int J Mol Sci. 2017. PMID: 28420223 Free PMC article.

4

[Endocrine and metabolic features of female children with Prader-Willi syndrome: an analysis of 4 cases].

Wu ML, Li J, Ding Y, Chen Y, Chang GY, Wang XM, Wang J, Shen YP. Wu ML, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2017 May;19(5):514-518. doi: 10.7499/j.issn.1008-8830.2017.05.007. Zhongguo Dang Dai Er Ke Za Zhi. 2017. PMID: 28506340 Free PMC article. Chinese.

5

[Analysis of clinical manifestation and genetic mutation in a child with X-linked chondrodysplasia punctata 2].

Chang G, Zhou Y, Yin L, Gu L, Ying D, Chen H, Wang X, Wang J. Chang G, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Aug 10;35(4):527-530. doi: 10.3760/cma.j.issn.1003-9406.2018.04.015. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 30098249 Chinese.

6

Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure.

Yu T, Chang G, Cheng Q, Yao R, Li J, Xu Y, Li G, Ding Y, Qing Y, Li N, Shen Y, Wang X, Wang J. Yu T, et al. Among authors: chang g. Mol Cell Endocrinol. 2018 Dec 15;478:133-140. doi: 10.1016/j.mce.2018.08.006. Epub 2018 Aug 17. Mol Cell Endocrinol. 2018. PMID: 30125608

7

Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients.

Li N, Wang Y, Yang Y, Wang P, Huang H, Xiong S, Sun L, Cheng M, Song C, Cheng X, Ding Y, Chang G, Chen Y, Xu Y, Yu T, Yao RE, Shen Y, Wang X, Wang J. Li N, et al. Among authors: chang g. Orphanet J Rare Dis. 2018 Oct 11;13(1):178. doi: 10.1186/s13023-018-0909-0. Orphanet J Rare Dis. 2018. PMID: 30305169 Free PMC article.

8

SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS.

Li X, Cheng Q, Li N, Chang G, Ding Y, Li J, Shen Y, Wang J, Wang X. Li X, et al. Among authors: chang g. Fetal Pediatr Pathol. 2018 Dec;37(6):404-410. doi: 10.1080/15513815.2018.1509406. Epub 2018 Dec 28. Fetal Pediatr Pathol. 2018. PMID: 30592236

9

Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients.

Li X, Yao R, Tan X, Li N, Ding Y, Li J, Chang G, Chen Y, Ma L, Wang J, Fu L, Wang X. Li X, et al. Among authors: chang g. Clin Genet. 2019 Oct;96(4):290-299. doi: 10.1111/cge.13588. Epub 2019 Jul 10. Clin Genet. 2019. PMID: 31219622

10

Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia.

Ding Y, Li N, Lou D, Zhang Q, Chang G, Li J, Li X, Li Q, Huang X, Wang J, Jiang F, Wang X. Ding Y, et al. Among authors: chang g. J Diabetes Investig. 2021 Jan;12(1):48-62. doi: 10.1111/jdi.13322. Epub 2020 Jul 23. J Diabetes Investig. 2021. PMID: 32531870 Free PMC article.

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