Huang H - Search Results

1

Preimplantation Genetic Testing (PGT) and Prenatal Diagnosis of Schaaf-Yang Syndrome: A Report of Three Families and a Research on Genotype-Phenotype Correlations.

Xu N, Shi W, Cao X, Zhou X, Huang H, Chen S, Xu C. Xu N, et al. Among authors: huang h. J Clin Med. 2023 Feb 20;12(4):1688. doi: 10.3390/jcm12041688. J Clin Med. 2023. PMID: 36836222 Free PMC article.

2

A PPARG Splice Variant in Granulosa Cells Is Associated with Polycystic Ovary Syndrome.

Shi CY, Xu JJ, Li C, Yu JL, Wu YT, Huang HF. Shi CY, et al. J Clin Med. 2022 Dec 8;11(24):7285. doi: 10.3390/jcm11247285. J Clin Med. 2022. PMID: 36555903 Free PMC article.

3

Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations.

Xu N, Shi W, Cao X, Zhou X, Jin L, Huang HF, Chen S, Xu C. Xu N, et al. J Med Genet. 2023 Sep;60(9):910-917. doi: 10.1136/jmg-2022-108920. Epub 2023 Jan 27. J Med Genet. 2023. PMID: 36707240 Free PMC article.

4

Sperm morphological abnormalities in autosomal dominant polycystic kidney disease are associated with the Hippo signaling pathway via PC1.

Shi WH, Zhou ZY, Ye MJ, Qin NX, Jiang ZR, Zhou XY, Xu NX, Cao XL, Chen SC, Huang HF, Xu CM. Shi WH, et al. Front Endocrinol (Lausanne). 2023 Apr 19;14:1130536. doi: 10.3389/fendo.2023.1130536. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37152951 Free PMC article.

5

Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology.

Chen SC, Zhou XY, Li SY, Zhao MM, Huang HF, Jia J, Xu CM. Chen SC, et al. J Assist Reprod Genet. 2023 Sep;40(9):2157-2173. doi: 10.1007/s10815-023-02876-y. Epub 2023 Jul 14. J Assist Reprod Genet. 2023. PMID: 37450097 Free PMC article.

6

Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms.

Wang Y, Qiu X, Chen S, Pan D, Hua R, Li S, Chen Y, Pan N, Cai X, Li J, Zhao X, Wang J, Jing R, Xiang G, Zhang Z, Huang HF, Xu C, Zhang J. Wang Y, et al. J Mol Diagn. 2023 Sep;25(9):682-691. doi: 10.1016/j.jmoldx.2023.06.003. J Mol Diagn. 2023. PMID: 37599029 Free article.

7

Early characterisation and prediction of liver diseases in pregnancy by plasma cell-free RNAs.

Sun J, Wang WJ, Zhou X, Yang T, Ye M, Shi W, Liu Z, Zhang L, Zhou Q, Qin Y, Chen Y, Chen F, Huang H, Chen S, Xu C. Sun J, et al. Among authors: huang h. Clin Transl Med. 2023 Oct;13(10):e1439. doi: 10.1002/ctm2.1439. Clin Transl Med. 2023. PMID: 37830149 Free PMC article. No abstract available.

8

[Expert consensus on the clinical application strategy of NIPT2.0, a new-generation non-invasive prenatal screening technology].

Reproductive Health Branch Of China Maternal And Child Health Association, Xu C, Yin C, Yin A, Liu S, Jiang Y, Luo Q, Wang H, Huang H. Reproductive Health Branch Of China Maternal And Child Health Association, et al. Among authors: huang h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Oct 10;41(10):1155-1163. doi: 10.3760/cma.j.cn511374-20240626-00353. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 39344607 Chinese.

9

Research progress and challenges of preimplantation genetic testing for polygenic diseases.

Wu X, Pan J, Zhu Y, Huang H. Wu X, et al. Among authors: huang h. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Nov 20;53(3):280-287. doi: 10.3724/zdxbyxb-2023-0440. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023. PMID: 37987034 Free PMC article. Review. Chinese, English.

10

A Novel Heterozygous Intronic FBN1 Variant Contributes to Aberrant RNA Splicing in Marfan Syndrome.

Dougarem D, Chen YX, Sun YN, Huang HF, Luo Q. Dougarem D, et al. Mol Genet Genomic Med. 2024 Sep;12(9):e70004. doi: 10.1002/mgg3.70004. Mol Genet Genomic Med. 2024. PMID: 39219382 Free PMC article.

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