遗传与出生缺陷疾病研究组

Laboratory of Inherited Disorders and Birth Defects

发表论文
1.

Zhong Z, Gu L, Zheng X, Ma N, Wu Z, Duan J, Zhang J*, Chen J*. Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis. Pigment Cell Melanoma Res. 2019 Sep;32(5):672-686. doi: 10.1111/pcmr.12790. Epub 2019 May 29.

2.

Zhong Z, Rong F, Dai Y, Yibulayin A, Zeng L, Liao J, Wang L, Huang Z, Zhou Z, Chen J*. Seven Novel Variants Expanding Spectrum of RPE65-related Leber Congenital Amaurosis in Chinese Population. Molecular Vision. 2019 25:204-214.

3.

Wu Z, Meng D, Fang C, Li J, Zheng X, Lin J, Zeng H, Lv S, Zhang Z, Luan B, Zhong Z, Chen J*. PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population. Mol Med Rep. 2019 Feb 26

4.

Gao Y, Ren RJ, Zhong ZL, Dammer E, Zhao QH, Shan S, Zhou Z, Li X, Zhang YQ, Cui HL, Hu YB, Chen SD, Chen JJ*, Guo QH*, Wang G*.Mutation profile of APP, PSEN1, and PSEN2 in Chinese familial Alzheimer's disease. Neurobiol Aging. 2019 Jan 31;77:154-157.

5.

Qiu JJ, Zhang Q, Geng ZX, Liu M, Zhong ZL, Chen JJ, Liu F. Identification of a novel PAX6 mutation in a Chinese family with aniridia. BMC Ophthalmol. 2019 Jan 8;19(1):10

6.

Cao D, Xu Z, Gu S, Li K, Bao X, Zhou Y, Yin D, Chen J, Wang Y. Identification of a novel mutation in FBN1 in a Chinese family with inherited ectopia lentis by targeted NGS. Gene. 2019 Mar 20;689:51-55.

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