Yuan S - Search Results

1

Genetic Analysis and Reproductive Interventions for Two Rare Families Affected by Severe Haemophilia A.

Yuan S, Hu L, Zhong J, Hu X, Zhao X, Wan Z, Zeng S, He WB, Gu F, Wang SP, Lu G, Lin G, Du J. Yuan S, et al. Haemophilia. 2024 Dec 4. doi: 10.1111/hae.15140. Online ahead of print. Haemophilia. 2024. PMID: 39632590

2

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: yuan s. 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.

3

The genetic cause of intellectual deficiency and/or congenital malformations in two parental reciprocal translocation carriers and implications for assisted reproduction.

Cheng D, Yuan S, Hu L, Yi D, Luo K, Gong F, Lu C, Lu G, Lin G, Tan YQ. Cheng D, et al. Among authors: yuan s. J Assist Reprod Genet. 2021 Jan;38(1):243-250. doi: 10.1007/s10815-020-01986-1. Epub 2020 Oct 22. J Assist Reprod Genet. 2021. PMID: 33094427 Free PMC article.

4

Reproductive risks and preimplantation genetic testing intervention for X-autosome translocation carriers.

Yuan S, Cheng D, Luo K, Li X, Hu L, Hu H, Wu X, Xie P, Lu C, Lu G, Lin G, Gong F, Tan YQ. Yuan S, et al. Reprod Biomed Online. 2021 Jul;43(1):73-80. doi: 10.1016/j.rbmo.2021.03.010. Epub 2021 Mar 17. Reprod Biomed Online. 2021. PMID: 33931368

5

Next-generation sequence-based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism.

Hu X, He WB, Zhang SP, Luo KL, Gong F, Dai J, Zhang Y, Wan ZX, Li W, Yuan SM, Tan YQ, Lu GX, Lin G, Du J. Hu X, et al. Mol Genet Genomic Med. 2021 May;9(5):e1662. doi: 10.1002/mgg3.1662. Epub 2021 May 4. Mol Genet Genomic Med. 2021. PMID: 33942572 Free PMC article.

6

[Genetic analysis and assisted reproductive guidance for two infertile patients with rare small supernumerary marker chromosomes].

Yi D, Yuan S, Hu L, Gong F, Luo K, Hu H, Tan Y, Lu G, Lin G, Cheng D. Yi D, et al. Among authors: yuan s. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 May 10;41(5):519-525. doi: 10.3760/cma.j.cn511374-20230322-00152. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38684294 Chinese.

7

[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: yuan s. 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.

8

A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome.

Yuan SM, Huang H, Tu CF, Du J, Xu DB, Lin G, Lu GX, Tan YQ. Yuan SM, et al. Asian J Androl. 2018 May-Jun;20(3):308-310. doi: 10.4103/aja.aja_32_17. Asian J Androl. 2018. PMID: 28857053 Free PMC article. No abstract available.

9

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. 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

10

Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature.

Li H, Du J, Li W, Cheng D, He W, Yi D, Xiong B, Yuan S, Tu C, Meng L, Luo A, Lin G, Lu G, Tan YQ. Li H, et al. Among authors: yuan s. Mol Cytogenet. 2018 Feb 5;11:15. doi: 10.1186/s13039-018-0365-5. eCollection 2018. Mol Cytogenet. 2018. PMID: 29441129 Free PMC article.

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