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A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children.
Lin L, Li M, Luo J, Li P, Zhou S, Yang Y, Chen K, Weng Y, Ge X, Mireguli M, Wei H, Yang H, Li G, Sun Y, Cui L, Zhang S, Chen J, Zeng G, Xu L, Luo X, Shen Y. Lin L, et al. Among authors: shen y. J Clin Endocrinol Metab. 2021 Jun 16;106(7):e2711-e2719. doi: 10.1210/clinem/dgab088. J Clin Endocrinol Metab. 2021. PMID: 33606014 Free PMC article.
Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions.
Dauber A, Yu Y, Turchin MC, Chiang CW, Meng YA, Demerath EW, Patel SR, Rich SS, Rotter JI, Schreiner PJ, Wilson JG, Shen Y, Wu BL, Hirschhorn JN. Dauber A, et al. Among authors: shen y. Am J Hum Genet. 2011 Dec 9;89(6):751-9. doi: 10.1016/j.ajhg.2011.10.014. Epub 2011 Nov 23. Am J Hum Genet. 2011. PMID: 22118881 Free PMC article.
Whole exome sequencing to identify genetic causes of short stature.
Guo MH, Shen Y, Walvoord EC, Miller TC, Moon JE, Hirschhorn JN, Dauber A. Guo MH, et al. Among authors: shen y. Horm Res Paediatr. 2014;82(1):44-52. doi: 10.1159/000360857. Epub 2014 Jun 20. Horm Res Paediatr. 2014. PMID: 24970356 Free PMC article. Clinical Trial.
PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism.
Fu C, Chen R, Zhang S, Luo S, Wang J, Chen Y, Zheng H, Su J, Hu X, Fan X, Luo J, Yi S, Lai Y, Li C, Xie B, Shen Y, Gu X, Chen S. Fu C, et al. Among authors: shen y. Clin Chim Acta. 2015 Oct 23;450:322-6. doi: 10.1016/j.cca.2015.09.008. Epub 2015 Sep 8. Clin Chim Acta. 2015. PMID: 26362610
Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism.
Hu X, Chen R, Fu C, Fan X, Wang J, Qian J, Yi S, Li C, Luo J, Su J, Zhang S, Xie B, Zheng H, Lai Y, Chen Y, Li H, Gu X, Chen S, Shen Y. Hu X, et al. Among authors: shen y. Mol Cell Endocrinol. 2016 Mar 5;423:60-6. doi: 10.1016/j.mce.2016.01.007. Epub 2016 Jan 8. Mol Cell Endocrinol. 2016. PMID: 26777470
28,017 results
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