Niu Y - Search Results

1

Complex preimplantation genetic tests for Robertsonian translocation, HLA, and X-linked hyper IgM syndrome caused by a novel mutation of CD40LG gene.

Huang S, Niu Y, Li J, Gao M, Zhang Y, Yan J, Ma S, Gao X, Gao Y. Huang S, et al. Among authors: niu y. J Assist Reprod Genet. 2020 Aug;37(8):2025-2031. doi: 10.1007/s10815-020-01846-y. Epub 2020 Jun 5. J Assist Reprod Genet. 2020. PMID: 32500460 Free PMC article.

2

[Novel mutations of XPC gene detected in a family affected with xeroderma pigmentosum group C].

Wang L, Huang S, Li J, Zou Y, Xu P, Gao M, Kang R, Xie H, Wei X, Niu Y, Liu X, Gao Y. Wang L, et al. Among authors: niu y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Aug 10;35(4):540-543. doi: 10.3760/cma.j.issn.1003-9406.2018.04.018. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 30098252 Chinese.

3

A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly.

Xu P, Li R, Huang S, Sun M, Liu J, Niu Y, Zou Y, Li J, Gao M, Li X, Gao X, Gao Y. Xu P, et al. Among authors: niu y. Front Genet. 2020 Feb 28;11:143. doi: 10.3389/fgene.2020.00143. eCollection 2020. Front Genet. 2020. PMID: 32184806 Free PMC article.

4

[Identification of a novel splicing variant of IDS gene in a pedigree affected with type II glycosaminoglycan product storage disease].

Xie H, Wang L, Huang S, Li J, Zou Y, Xu P, Gao M, Kang R, Niu Y, Liu X, Gao Y. Xie H, et al. Among authors: niu y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jul 10;37(7):713-716. doi: 10.3760/cma.j.issn.1003-9406.2020.07.003. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32619248 Chinese.

5

[Identification of a novel variant of COL4A5 gene in a pedigree affected with Alport syndrome].

Liu X, Gao M, Zou Y, Wang L, Kang R, Xu P, Niu Y, Huang S, Li J, Xie H, Gao Y. Liu X, et al. Among authors: niu y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Aug 10;37(8):807-810. doi: 10.3760/cma.j.issn.1003-9406.2020.08.001. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32761583 Chinese.

6

[Analysis of MECP2 gene variants in three pedigrees affected with Rett syndrome].

Niu Y, Chen X, Li J, Huang S, Xu P, Gao Y. Niu Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Sep 10;37(9):968-971. doi: 10.3760/cma.j.cn511374-20200310-00152. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32820509 Chinese.

7

A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report.

Niu Y, Huang S, Wang Z, Xu P, Wang L, Li J, Gao M, Gao X, Gao Y. Niu Y, et al. BMC Med Genet. 2020 Oct 21;21(1):211. doi: 10.1186/s12881-020-01148-1. BMC Med Genet. 2020. PMID: 33087052 Free PMC article.

8

[A case of tuberous sclerosis complex due to a novel splicing variant of TSC2 gene].

Niu Y, Huang S, Xu P, Li J, Gao M, Chen X, Chu H, Gao Y. Niu Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jun 10;38(6):553-556. doi: 10.3760/cma.j.cn511374-20200211-00072. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 34096024 Chinese.

9

[Identification of a novel variant of NHS gene underlying Nance-Horan syndrome].

Chen X, Xu P, Li J, Niu Y, Kang R, Gao Y. Chen X, et al. Among authors: niu y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Nov 10;38(11):1077-1080. doi: 10.3760/cma.j.cn511374-20200817-00603. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 34729747 Chinese.

10

[Genetic analysis of a case of mild epilepsy due to variant of SCN9A gene].

Yin X, Niu Y, Zou Y, Gao Y. Yin X, et al. Among authors: niu y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Mar 10;40(3):344-348. doi: 10.3760/cma.j.cn511374-20211014-00814. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 36854412 Chinese.

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