Li J - Search Results

1

Clinical characteristics and follow-up of 5 young Chinese males with gonadotropin-releasing hormone deficiency caused by mutations in the KAL1 gene.

Li J, Li N, Ding Y, Huang X, Shen Y, Wang J, Wang X. Li J, et al. Among authors: li n. Meta Gene. 2015 Dec 3;7:64-9. doi: 10.1016/j.mgene.2015.12.001. eCollection 2016 Feb. Meta Gene. 2015. PMID: 26862482 Free PMC article.

2

Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome.

Li Q, Chang G, Yin L, Li J, Huang X, Shen Y, Li G, Xu Y, Wang J, Wang X. Li Q, et al. Among authors: li j, li g. Sci Rep. 2020 Dec 4;10(1):21224. doi: 10.1038/s41598-020-78205-5. Sci Rep. 2020. PMID: 33277604 Free PMC article.

3

Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature.

Li X, Yao R, Chang G, Li Q, Song C, Li N, Ding Y, Li J, Chen Y, Wang Y, Huang X, Shen Y, Zhang H, Wang J, Wang X. Li X, et al. Among authors: li j, li n, li q. J Clin Endocrinol Metab. 2022 Mar 24;107(4):972-985. doi: 10.1210/clinem/dgab863. J Clin Endocrinol Metab. 2022. PMID: 34850017 Free PMC article.

4

Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children.

Chang G, Li Q, Li N, Li G, Li J, Ding Y, Huang X, Shen Y, Wang J, Wang X. Chang G, et al. Among authors: li j, li g, li n, li q. BMC Endocr Disord. 2022 Mar 16;22(1):70. doi: 10.1186/s12902-022-00941-8. BMC Endocr Disord. 2022. PMID: 35296306 Free PMC article.

5

Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency.

Yu Y, Wang J, Huang X, Wang Y, Yang P, Li J, Tsuei SH, Shen Y, Fu Q. Yu Y, et al. Among authors: li j. Genet Test Mol Biomarkers. 2011 Mar;15(3):137-42. doi: 10.1089/gtmb.2010.0131. Epub 2011 Jan 3. Genet Test Mol Biomarkers. 2011. PMID: 21198393

6

Novel mutations in the CYP11B2 gene causing aldosterone synthase deficiency.

Li N, Li J, Ding Y, Yu T, Shen Y, Fu Q, Shen Y, Huang X, Wang J. Li N, et al. Among authors: li j. Mol Med Rep. 2016 Apr;13(4):3127-32. doi: 10.3892/mmr.2016.4906. Epub 2016 Feb 18. Mol Med Rep. 2016. PMID: 26936515

7

Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype.

Li N, Ding YU, Yu T, Li J, Shen Y, Wang X, Fu Q, Shen Y, Huang X, Wang J. Li N, et al. Among authors: li j. Exp Ther Med. 2016 Jun;11(6):2247-2253. doi: 10.3892/etm.2016.3241. Epub 2016 Apr 11. Exp Ther Med. 2016. PMID: 27284308 Free PMC article.

8

[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: li x. 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.

9

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: li j, li 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.

10

De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome.

Li G, Li N, Li J, Ding Y, Yu T, Wang X, Wang J. Li G, et al. Among authors: li j, li n. Fetal Pediatr Pathol. 2017 Apr;36(2):130-138. doi: 10.1080/15513815.2017.1281364. Epub 2017 Feb 7. Fetal Pediatr Pathol. 2017. PMID: 28426343

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