Wang Y - Search Results

1

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.

Feng B, Li X, Zhang Q, Wang Y, Gu S, Yao RE, Li Z, Gao S, Chang G, Li Q, Li N, Fu L, Wang J, Wang X. Feng B, et al. Among authors: wang x, wang j, wang y. Orphanet J Rare Dis. 2023 Sep 11;18(1):284. doi: 10.1186/s13023-023-02878-0. Orphanet J Rare Dis. 2023. PMID: 37697378 Free PMC article.

2

Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients.

Li N, Wang Y, Yang Y, Wang P, Huang H, Xiong S, Sun L, Cheng M, Song C, Cheng X, Ding Y, Chang G, Chen Y, Xu Y, Yu T, Yao RE, Shen Y, Wang X, Wang J. Li N, et al. Among authors: wang x, wang j, wang y, wang p. Orphanet J Rare Dis. 2018 Oct 11;13(1):178. doi: 10.1186/s13023-018-0909-0. Orphanet J Rare Dis. 2018. PMID: 30305169 Free PMC article.

3

New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development.

Xu Y, Wang Y, Li N, Yao R, Li G, Li J, Ding Y, Chen Y, Huang X, Chen Y, Qing Y, Yu T, Shen Y, Wang X, Shen Y, Wang J. Xu Y, et al. Among authors: wang x, wang j, wang y. Eur J Endocrinol. 2019 Sep;181(3):311-323. doi: 10.1530/EJE-19-0111. Eur J Endocrinol. 2019. PMID: 31277073

4

Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms.

Wang YR, Xu NX, Wang J, Wang XM. Wang YR, et al. World J Pediatr. 2019 Dec;15(6):528-535. doi: 10.1007/s12519-019-00309-4. Epub 2019 Oct 5. World J Pediatr. 2019. PMID: 31587141 Review.

5

The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series.

Wang Y, Li N, Su Z, Xu Y, Liu S, Chen Y, Li X, Shen Y, Hung C, Wang J, Wang X, Bodamer O. Wang Y, et al. Among authors: wang x, wang j. Am J Med Genet A. 2020 Apr;182(4):640-651. doi: 10.1002/ajmg.a.61467. Epub 2019 Dec 28. Am J Med Genet A. 2020. PMID: 31883305

6

[Clinical and genetic analysis of an infant with combined pituitary hormone deficiency due to POU1F1 gene variants].

Li Q, Li J, Chang G, Ding Y, Wang Y, Shen Y, Wang J, Wang X. Li Q, et al. Among authors: wang x, wang j, wang y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Sep 10;37(9):1018-1020. doi: 10.3760/cma.j.cn511374-20190921-00486. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32820520 Chinese.

7

[Genetic analysis of a child with acrodysostosis type 2].

Wang L, Li Q, Li X, Wang Y, Li J, Wang J, Wang X. Wang L, et al. Among authors: wang x, wang j, wang y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Oct 10;37(10):1128-1131. doi: 10.3760/cma.j.cn511374-20191024-00541. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32924117 Chinese.

8

A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature.

Sun L, Zhang Q, Li Q, Tang Y, Wang Y, Li X, Li N, Wang J, Wang X. Sun L, et al. Among authors: wang x, wang j, wang y. BMC Med Genet. 2020 Oct 31;21(1):215. doi: 10.1186/s12881-020-01146-3. BMC Med Genet. 2020. PMID: 33129256 Free PMC article.

9

[Frontometaphyseal dysplasia 1 caused by variant of FLNA gene in a case].

Ye Q, Zhao J, Chang G, Wang Y, Ding Y, Li J, Li Q, Chen Y, Wang J, Wang X. Ye Q, et al. Among authors: wang x, wang j, wang y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Apr 10;38(4):355-358. doi: 10.3760/cma.j.cn511374-20200523-00374. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 33834464 Chinese.

10

Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature.

Li X, Yao R, Chang G, Li Q, Song C, Li N, Ding Y, Li J, Chen Y, Wang Y, Huang X, Shen Y, Zhang H, Wang J, Wang X. Li X, et al. Among authors: wang x, wang j, wang y. J Clin Endocrinol Metab. 2022 Mar 24;107(4):972-985. doi: 10.1210/clinem/dgab863. J Clin Endocrinol Metab. 2022. PMID: 34850017 Free PMC article.

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