Zhang J - Search Results

1

A Novel De novo Mutation of the SASH1 Gene in a Chinese Family with Multiple Lentigines.

Wang J, Zhang J, Li X, Wang Z, Lei D, Wang G, Li J, Zhang S, Li Z, Li M. Wang J, et al. Among authors: zhang s, zhang j. Acta Derm Venereol. 2017 Apr 6;97(4):530-531. doi: 10.2340/00015555-2575. Acta Derm Venereol. 2017. PMID: 27840890 Free article. No abstract available.

2

Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.

Zhang J, Tong H, Fu X, Zhang Y, Liu J, Cheng R, Liang J, Peng J, Sun Z, Liu H, Zhang F, Lu W, Li M, Yao Z. Zhang J, et al. Among authors: zhang f, zhang y. Sci Rep. 2015 Jun 9;5:11291. doi: 10.1038/srep11291. Sci Rep. 2015. PMID: 26056819 Free PMC article.

3

A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome.

Ni C, Yan M, Zhang J, Cheng R, Liang J, Deng D, Wang Z, Li M, Yao Z. Ni C, et al. Among authors: zhang j. Sci Rep. 2016 Feb 23;6:21815. doi: 10.1038/srep21815. Sci Rep. 2016. PMID: 26902751 Free PMC article.

4

Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome.

Li M, Wang J, Li Z, Zhang J, Ni C, Cheng R, Yao Z. Li M, et al. Among authors: zhang j. Eur J Hum Genet. 2016 Aug;24(9):1367-70. doi: 10.1038/ejhg.2016.15. Epub 2016 Mar 2. Eur J Hum Genet. 2016. PMID: 26932190 Free PMC article.

5

[Molecular analysis of two pediatric cases with sporadic neurofibromatosis type 1].

Zhang J, Li M, Yao Z. Zhang J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Apr;33(2):200-2. doi: 10.3760/cma.j.issn.1003-9406.2016.02.016. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016. PMID: 27060315 Chinese.

6

Report of Chinese family with severe dermatitis, multiple allergies and metabolic wasting syndrome caused by novel homozygous desmoglein-1 gene mutation.

Cheng R, Yan M, Ni C, Zhang J, Li M, Yao Z. Cheng R, et al. Among authors: zhang j. J Dermatol. 2016 Oct;43(10):1201-1204. doi: 10.1111/1346-8138.13431. J Dermatol. 2016. PMID: 27154412

7

Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome.

Zhang J, Shen J, Cheng R, Ni C, Liang J, Li M, Yao Z. Zhang J, et al. Mol Med Rep. 2016 Sep;14(3):2639-43. doi: 10.3892/mmr.2016.5547. Epub 2016 Jul 27. Mol Med Rep. 2016. PMID: 27484170 Review.

8

[Advance in research on causative genes of xeroderma pigmentosum and related diseases].

Sun Z, Guo Y, Zhang J, Zhuang Y, Li M, Yao Z. Sun Z, et al. Among authors: zhang j. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Oct;33(5):708-12. doi: 10.3760/cma.j.issn.1003-9406.2016.05.029. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016. PMID: 27577229 Review. Chinese.

9

Nagashima-type palmoplantar keratosis in a Chinese Han population.

Zhang J, Zhang G, Ni C, Cheng R, Liang J, Li M, Yao Z. Zhang J, et al. Among authors: zhang g. Mol Med Rep. 2016 Nov;14(5):4049-4054. doi: 10.3892/mmr.2016.5757. Epub 2016 Sep 21. Mol Med Rep. 2016. PMID: 27666198 Free PMC article.

10

Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).

Zhang J, Li M, Yao Z. Zhang J, et al. Mol Med Rep. 2016 Nov;14(5):4023-4029. doi: 10.3892/mmr.2016.5760. Epub 2016 Sep 22. Mol Med Rep. 2016. PMID: 27666661 Free PMC article. Review.

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