Zhang HJ - Search Results

1

A novel missense mutation, GGC(Arg454) --> TGC(Cys), of CYP11B1 gene identified in a Chinese family with steroid 11beta-hydroxylase deficiency.

Ye ZQ, Zhang MN, Zhang HJ, Jiang JJ, Li XY, Zhang KQ. Ye ZQ, et al. Among authors: zhang kq, zhang hj, zhang mn. Chin Med J (Engl). 2010 May 20;123(10):1264-8. Chin Med J (Engl). 2010. PMID: 20529578

2

Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance.

Chi ZN, Hong J, Yang J, Zhang HJ, Dai M, Cui B, Zhang Y, Gu WQ, Zhang YF, Liu QR, Wang WQ, Li XY, Ning G. Chi ZN, et al. Among authors: zhang yf, zhang hj, zhang y. Endocrine. 2007 Aug;32(1):122-6. doi: 10.1007/s12020-007-9013-2. Epub 2007 Oct 23. Endocrine. 2007. PMID: 17955389

3

[Identification of a novel missense mutation of the DAX-1 gene in a Chinese pedigree with X-linked adrenal hypoplasia congenita].

Xiao Y, Yang J, Zhang HJ, Wang W, Li XY, Wang DF, Dong ZY, Wang XM. Xiao Y, et al. Among authors: zhang hj. Zhonghua Er Ke Za Zhi. 2007 Dec;45(12):937-41. Zhonghua Er Ke Za Zhi. 2007. PMID: 18339285 Chinese.

4

Variations in the promoter of CYP21A2 gene identified in a Chinese patient with simple virilizing form of 21-hydroxylase deficiency.

Zhang HJ, Yang J, Zhang MN, Zhang W, Liu JM, Wang WQ, Ning G, Li XY. Zhang HJ, et al. Among authors: zhang w, zhang mn. Clin Endocrinol (Oxf). 2009 Feb;70(2):201-7. doi: 10.1111/j.1365-2265.2008.03356.x. Epub 2008 Aug 13. Clin Endocrinol (Oxf). 2009. PMID: 18702679

5

The novel compound heterozygous mutations, V434del and W666X, in WFS1 gene causing the Wolfram syndrome in a Chinese family.

Hong J, Zhang YW, Zhang HJ, Jia HY, Zhang Y, Ding XY, Zhou DY, Chen HP, Jiang XH, Cui B, Li XY, Ning G. Hong J, et al. Among authors: zhang yw, zhang hj, zhang y. Endocrine. 2009 Apr;35(2):151-7. doi: 10.1007/s12020-009-9145-7. Epub 2009 Jan 22. Endocrine. 2009. PMID: 19160074

6

G protein-coupled receptor 48 upregulates estrogen receptor alpha expression via cAMP/PKA signaling in the male reproductive tract.

Li XY, Lu Y, Sun HY, Wang JQ, Yang J, Zhang HJ, Fan NG, Xu J, Jiang JJ, Liu RY, Li DL, Liu MY, Ning G. Li XY, et al. Among authors: zhang hj. Development. 2010 Jan;137(1):151-7. doi: 10.1242/dev.040659. Development. 2010. PMID: 20023170

7

Seven novel DAX1 mutations with loss of function identified in Chinese patients with congenital adrenal hypoplasia.

Li N, Liu R, Zhang H, Yang J, Sun S, Zhang M, Liu Y, Lu Y, Wang W, Mu Y, Ning G, Li X. Li N, et al. J Clin Endocrinol Metab. 2010 Sep;95(9):E104-11. doi: 10.1210/jc.2009-2408. Epub 2010 Jun 23. J Clin Endocrinol Metab. 2010. PMID: 20573681

8

Metabolic disorders in newly diagnosed young adult female patients with simple virilizing 21-hydroxylase deficiency.

Zhang HJ, Yang J, Zhang MN, Liu CQ, Xu M, Li XJ, Yang SY, Li XY. Zhang HJ, et al. Among authors: zhang mn. Endocrine. 2010 Oct;38(2):260-5. doi: 10.1007/s12020-010-9382-9. Epub 2010 Oct 27. Endocrine. 2010. PMID: 20978868

9

A novel SRD5A2 mutation with loss of function identified in Chinese patients with hypospadias.

Zhang M, Yang J, Zhang H, Ning G, Li X, Sun S. Zhang M, et al. Horm Res Paediatr. 2011;76(1):44-9. doi: 10.1159/000324692. Epub 2011 May 3. Horm Res Paediatr. 2011. PMID: 21540559

10

[Clinical and genetic analysis of 11β-hydroxylase deficiency].

Sun SY, Zhang MN, Yang J, Zhang HJ, Liu JM, Hong J, Ning G, Li XY. Sun SY, et al. Among authors: zhang hj, zhang mn. Zhonghua Yi Xue Za Zhi. 2011 Nov 15;91(42):2999-3002. Zhonghua Yi Xue Za Zhi. 2011. PMID: 22333028 Chinese.

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