遗传与出生缺陷疾病研究组

Laboratory of Inherited Disorders and Birth Defects

发表论文
1.

Ding X, Zhou N, Lin H, Chen J, Zhao C, Zhou G, Hejtmancik JF, Qi Y*. A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract. PLoS One. 2014 Jul 17;9(7):e102733.

2.

Daniels AB, Sandberg MA, Chen J, Weigel-DiFranco C, Fielding Hejtmancic J, Berson EL*. Genotype-phenotype correlations in Bardet-Biedl syndrome. Arch Ophthalmol. 2012 Jul;130(7):901-7.

3.

Chen J, Smaoui N, Hammer MB, Jiao X, Riazuddin SA, Harper S, Katsanis N, Riazuddin S, Chaabouni H, Berson EL, Hejtmancik JF*. Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. Invest Ophthalmol Vis Sci. 2011 Jul 18;52(8):5317-24.

4.

Chen J#, Ma Z#,, Jiao X, Fariss R, Kantorow WL, Kantorow M, Pras E, Frydman M, Pras E, Riazuddin S, Riazuddin SA, Hejtmancik JF*. Mutations in FYCO1 cause autosomal-recessive congenital cataracts. Am J Hum Genet. 2011 Jun 10;88(6):827-838.

5.

Chen J, Wildhardt G, Zhong Z, Röth R, Weiss B, Steinberger D, Decker J, Blum WF, Rappold G*. Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. J Med Genet. 2009 Dec;46(12):834-9.

6.

Xu S, Zhou Y, Yang S, Ren Y, Zhang C, Quan C, Gao M, He C, Chen H, Hhan J, Chen J, Liang Y, Yang J, Sun L, Yin X, Liu J, Zhang X*. Platelet-derived growth factor receptor alpha gene mutations in vitiligo vulgaris. Acta Derm Venereol. 2010 Mar;90(2):131-5.

7.

Liang Y, Yang S, Zhou Y, Gui J, Ren Y, Chen J, Fan X, Sun L, Xiao F, Gao M, Du W, Fang Q, Xu S, Huang W, Zhang X*. Evidence for two susceptibility loci on chromosomes 22q12 and 6p21-p22 in Chinese generalized vitiligo families. J Invest Dermatol. 2007 Nov;127(11):2552-7.

8.

Chen JJ#, Liang YH#, Zhou FS, Yang S, Wang J, Wang PG, Du WH, Xu SJ, Huang W, Zhang XJ*. The gene for a rare autosomal dominant form of pompholyx maps to chromosome 18q22.1-18q22.3. J Invest Dermatol. 2006 Feb;126(2):300-4.

9.

Zhang XJ*, Chen JJ, Liu JB. The genetic concept of vitiligo. J Dermatol Sci. 2005 Sep;39(3):137-46. Review.

10.

Chen JJ#, Huang W#, Gui JP, Yang S, Zhou FS, Xiong QG, Wu HB, Cui Y, Gao M, Li W, Li JX, Yan KL, Yuan WT, Xu SJ, Liu JJ, Zhang XJ*. A novel linkage to generalized vitiligo on 4q13-q21 identified in a genomewide linkage analysis of Chinese families. Am J Hum Genet. 2005 Jun;76(6):1057-65.

11.

Zhang XJ*, Liang YH, He PP, Yang S, Wang HY, Chen JJ, Yuan WT, Xu SJ, Cui Y, Huang W. Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. J Invest Dermatol. 2004 Mar;122(3):658-64.

12.

Yang S, Ge HS, Zhang AP, Wei SC, Gao M, Wang HY, Chen JJ, Li M, Liang YH, He PP, Yang J, Zhang XJ*. Haplotype associations of the MHC with psoriasis vulgaris in Chinese Hans. Clin Exp Dermatol. 2004 Jul;29(4):399-405.

13.

Zhang XJ*, Chen JJ, Yang S, Cui Y, Xiong XY, He PP, Dong PL, Xu SJ, Li YB, Zhou Q, Wang Y, Huang W. A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. J Dermatol Sci. 2003 Jun;32(1):11-7.

14.

Zhang XJ*, Chen JJ, Song YX, Yang S, Xiong XY, Zhang AP, He PP, Gao M, Li YB, Lin D, Huang W. Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasia. Arch Dermatol Res. 2003 Apr;295(1):38-42.

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