Li W - Search Results

1

Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella.

Tu C, Nie H, Meng L, Yuan S, He W, Luo A, Li H, Li W, Du J, Lu G, Lin G, Tan YQ. Tu C, et al. Among authors: li w, li h. Sci Rep. 2019 Nov 1;9(1):15864. doi: 10.1038/s41598-019-52436-7. Sci Rep. 2019. PMID: 31676830 Free PMC article. Clinical Trial.

2

DMC1 mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing.

He WB, Tu CF, Liu Q, Meng LL, Yuan SM, Luo AX, He FS, Shen J, Li W, Du J, Zhong CG, Lu GX, Lin G, Fan LQ, Tan YQ. He WB, et al. Among authors: li w. J Med Genet. 2018 Mar;55(3):198-204. doi: 10.1136/jmedgenet-2017-104992. Epub 2018 Jan 13. J Med Genet. 2018. PMID: 29331980

3

Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans.

Tan YQ, Tu C, Meng L, Yuan S, Sjaarda C, Luo A, Du J, Li W, Gong F, Zhong C, Deng HX, Lu G, Liang P, Lin G. Tan YQ, et al. Among authors: li w. Genet Med. 2019 May;21(5):1209-1217. doi: 10.1038/gim.2017.130. Epub 2017 Aug 24. Genet Med. 2019. PMID: 31048812 Free article.

4

[Identification of novel KIT gene mutations in two Chinese families with piebaldism].

He WB, Hu X, Tang WL, Li LY, Lu GX, Li W. He WB, et al. Among authors: li ly, li w. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Aug;30(4):385-8. doi: 10.3760/cma.j.issn.1003-9406.2013.04.001. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013. PMID: 23926000 Chinese.

5

[Karyotyping and analysis of 5α -reductase-2 gene mutation in 25 patients with hypospadias].

Yuan S, Zhong C, Li X, Du J, Li W, Lu G, Tan Y. Yuan S, et al. Among authors: li w, li x. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):159-163. doi: 10.3760/cma.j.issn.1003-9406.2017.02.001. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 28397209 Chinese.

6

[Study of two Chinese families affected with resistant ovarian syndrome resulted from novel mutations of FSHR gene].

Li W, He W, Zhou L, Hu X, Li S, Gong F, Tan Y. Li W, et al. Among authors: li s. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):196-199. doi: 10.3760/cma.j.issn.1003-9406.2017.02.009. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 28397217 Chinese.

7

A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China.

Dai CL, He WB, Du J, Tan YQ, Lu GX, Li W. Dai CL, et al. Among authors: li w. Clin Case Rep. 2017 May 4;5(6):961-967. doi: 10.1002/ccr3.986. eCollection 2017 Jun. Clin Case Rep. 2017. PMID: 28588848 Free PMC article.

8

[Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome].

Yang X, Li W, Du J, Yuan S, He W, Zhang Q, Zhong C, Lu G, Tan Y. Yang X, et al. Among authors: li w. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Jun 10;34(3):342-346. doi: 10.3760/cma.j.issn.1003-9406.2017.03.006. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 28604951 Chinese.

9

Genotype-phenotype correlation and identification of two novel SRD5A2 mutations in 33 Chinese patients with hypospadias.

Yuan S, Meng L, Zhang Y, Tu C, Du J, Li W, Liang P, Lu G, Tan YQ. Yuan S, et al. Among authors: li w. Steroids. 2017 Sep;125:61-66. doi: 10.1016/j.steroids.2017.06.010. Epub 2017 Jun 27. Steroids. 2017. PMID: 28663096

10

[Genetic analysis of three families affected with split-hand/split-foot malformation].

He W, Lin G, Liang P, Cheng D, Hu X, Zhou L, Xiong B, Tan Y, Lu G, Li W. He W, et al. Among authors: li w. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Aug 10;34(4):476-480. doi: 10.3760/cma.j.issn.1003-9406.2017.04.002. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 28777841 Chinese.

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