Shen Y - Search Results

1

EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.

Li C, Chen R, Fan X, Luo J, Qian J, Wang J, Xie B, Shen Y, Chen S. Li C, et al. Among authors: shen y. BMC Med Genet. 2015 Apr 11;16:23. doi: 10.1186/s12881-015-0165-2. BMC Med Genet. 2015. PMID: 25928000 Free PMC article.

2

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.

3

A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency.

Batey L, Moon JE, Yu Y, Wu B, Hirschhorn JN, Shen Y, Dauber A. Batey L, et al. Among authors: shen y. J Clin Endocrinol Metab. 2014 Jan;99(1):E153-9. doi: 10.1210/jc.2013-3106. Epub 2013 Dec 20. J Clin Endocrinol Metab. 2014. PMID: 24243634 Free PMC article.

4

Clinical and molecular evaluations of siblings with "pure" 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3).

Chen R, Li C, Xie B, Wang J, Fan X, Luo J, Hu X, Chen S, Shen Y. Chen R, et al. Among authors: shen y. Mol Cytogenet. 2014 Dec 24;7(1):101. doi: 10.1186/s13039-014-0101-8. eCollection 2014. Mol Cytogenet. 2014. PMID: 25648949 Free PMC article.

5

Sequence Variant Interpretation 2.0: Perspective on New Guidelines for Sequence Variant Classification.

Chen S, Hu X, Shen Y. Chen S, et al. Among authors: shen y. Clin Chem. 2015 Nov;61(11):1317-9. doi: 10.1373/clinchem.2015.240812. Epub 2015 Jun 4. Clin Chem. 2015. PMID: 26044508 No abstract available.

6

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

7

De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

Yu Y, Yao R, Wang L, Fan Y, Huang X, Hirschhorn J, Dauber A, Shen Y. Yu Y, et al. Among authors: shen y. BMC Genomics. 2015 Sep 16;16(1):701. doi: 10.1186/s12864-015-1898-1. BMC Genomics. 2015. PMID: 26376624 Free PMC article.

8

Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis.

Zhang S, Qin H, Lv W, Luo S, Wang J, Fu C, Ma R, Shen Y, Chen S, Wu L. Zhang S, et al. Among authors: shen y. Gene. 2016 Feb 15;577(2):187-92. doi: 10.1016/j.gene.2015.11.034. Epub 2015 Nov 25. Gene. 2016. PMID: 26625971

9

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

10

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism.

Fu C, Zheng H, Zhang S, Chen Y, Su J, Wang J, Xie B, Hu X, Fan X, Luo J, Li C, Chen R, Shen Y, Chen S. Fu C, et al. Among authors: shen y. Arch Endocrinol Metab. 2016 Aug;60(4):323-7. doi: 10.1590/2359-3997000000108. Epub 2016 Feb 16. Arch Endocrinol Metab. 2016. PMID: 26886089 Free PMC article.

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