He X - Search Results

1

Preimplantation genetic testing for Cockayne syndrome with a novel ERCC6 variant in a Chinese family.

He X, Zhang Y, Huang X, Qiu P, Ji H, Ding L, Shi Y, Huang Y, Li P, Mei L. He X, et al. Front Genet. 2024 Oct 15;15:1435622. doi: 10.3389/fgene.2024.1435622. eCollection 2024. Front Genet. 2024. PMID: 39473441 Free PMC article.

2

Identification of a pathogenic variant and pre-implantation genetic testing for a Chinese family affected with split-hand/foot malformation.

Mei LB, Zhang YY, Huang XJ, Ji H, Qiu PP, Ding L, He X, Li P. Mei LB, et al. Among authors: he x. Yi Chuan. 2024 Sep;46(9):750-756. doi: 10.16288/j.yczz.24-141. Yi Chuan. 2024. PMID: 39275874

3

Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressivemyoclonus epilepsy.

Mei L, Huang Y, Chen J, He X, Lin S, Liao L, Wang X, Huang X, Sha Y, Ji Z, Li P. Mei L, et al. Among authors: he x. Clin Chim Acta. 2019 Jun;493:87-91. doi: 10.1016/j.cca.2019.02.028. Epub 2019 Feb 28. Clin Chim Acta. 2019. PMID: 30825425

4

[Clinical and genetic analysis of a patient with 17-hydroxylase/17,20-lyase deficiency].

Zeng Y, Mei L, Liang L, He X, Gao H, Lin S, Huang L, Li P. Zeng Y, et al. Among authors: he x. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Sep 10;37(9):997-1000. doi: 10.3760/cma.j.cn511374-20191014-00524. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32820515 Chinese.

5

Mutations in FIGLA Associated With Premature Ovarian Insufficiency in a Chinese Population.

Mei L, Huang Y, Wu X, He H, Ye R, Ma J, He X, Shi Y, Li P. Mei L, et al. Among authors: he h, he x. Front Med (Lausanne). 2021 Oct 29;8:714306. doi: 10.3389/fmed.2021.714306. eCollection 2021. Front Med (Lausanne). 2021. PMID: 34778283 Free PMC article.

6

[Genetic analysis of a Chinese pedigree affected with congenital split-hand/foot malformation].

Mei L, He X, Gao H, Huang Y, Wu X, He H, Li P. Mei L, et al. Among authors: he x, he h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Dec 10;38(12):1208-1210. doi: 10.3760/cma.j.cn511374-20200914-00668. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 34839508 Chinese.

7

Two novel biallelic mutations in PSMC3IP in a patient affected by premature ovarian insufficiency.

Mei L, Huang L, Huang Y, Wu X, He H, He X, Su Z, Li P. Mei L, et al. Among authors: he h, he x. Mol Med Rep. 2022 Feb;25(2):45. doi: 10.3892/mmr.2021.12561. Epub 2021 Dec 8. Mol Med Rep. 2022. PMID: 34878148

8

Corrigendum: Mutations in FIGLA associated with premature ovarian insufficiency in a Chinese population.

Mei L, Huang Y, Wu X, He H, Ye R, Ma J, He X, Shi Y, Li P. Mei L, et al. Among authors: he h, he x. Front Med (Lausanne). 2022 Sep 6;9:946150. doi: 10.3389/fmed.2022.946150. eCollection 2022. Front Med (Lausanne). 2022. PMID: 36148460 Free PMC article.

9

Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF).

Sha YW, Wang X, Xu X, Su ZY, Cui Y, Mei LB, Huang XJ, Chen J, He XM, Ji ZY, Bao H, Yang X, Li P, Li L. Sha YW, et al. Among authors: he xm. Reprod Sci. 2019 Jan;26(1):26-34. doi: 10.1177/1933719117749756. Epub 2017 Dec 25. Reprod Sci. 2019. PMID: 29277146

10

TDRD6 is associated with oligoasthenoteratozoospermia by sequencing the patient from a consanguineous family.

Sha YW, Wang X, Su ZY, Wang C, Ji ZY, Mei LB, Zhang L, Deng BB, Huang XJ, Yan W, Chen J, Li P, Cui YQ, Qu QL, Yin C, He XM. Sha YW, et al. Among authors: he xm. Gene. 2018 Jun 15;659:84-88. doi: 10.1016/j.gene.2018.03.040. Epub 2018 Mar 15. Gene. 2018. PMID: 29551503

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