Wang X - Search Results

1

[Clinical characteristics and genetic analysis of a patient with STISS syndrome due to variant of PSMD12 gene].

Xu L, Wang Y, Zhang Q, Chen Y, Chang G, Wang X, Wang J, Ding Y. Xu L, et al. Among authors: wang x, wang j, wang y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Mar 10;40(3):349-353. doi: 10.3760/cma.j.cn511374-20220207-00097. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 36854413 Review. Chinese.

2

Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing's syndrome and acral cutaneous mucinosis.

McGlacken-Byrne SM, Abdelmaksoud A, Haini M, Palm L, Ashworth M, Li J, Wang W, Wang X, Wang J, Callaghan B, Kinsler VA, Faravelli F, Dattani MT. McGlacken-Byrne SM, et al. Among authors: wang x, wang w, wang j. Eur J Endocrinol. 2022 Dec 1;187(6):K55-K61. doi: 10.1530/EJE-22-0287. Eur J Endocrinol. 2022. PMID: 36691942

3

Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants.

Ding Y, Li Z, Zhang Q, Li N, Chang G, Wang Y, Li X, Li J, Li Q, Yao RE, Li X, Wang X. Ding Y, et al. Among authors: wang x, wang y. Front Endocrinol (Lausanne). 2023 Mar 7;14:1066320. doi: 10.3389/fendo.2023.1066320. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 36967753 Free PMC article.

4

Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China.

Zhang Q, Chang G, Tang Y, Gu S, Ding Y, Chen Y, Wang Y, Liu S, Wang J, Wang X. Zhang Q, et al. Among authors: wang x, wang j, wang y. BMC Pediatr. 2023 Mar 29;23(1):138. doi: 10.1186/s12887-023-03952-z. BMC Pediatr. 2023. PMID: 36991406 Free PMC article.

5

A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review.

Gao S, Zhang Q, Feng B, Gu S, Li Z, Sun L, Yao RE, Yu T, Ding Y, Wang X. Gao S, et al. Among authors: wang x. Mol Genet Genomic Med. 2023 Sep;11(9):e2235. doi: 10.1002/mgg3.2235. Epub 2023 Jul 19. Mol Genet Genomic Med. 2023. PMID: 37469238 Free PMC article. Review.

6

Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.

Tang Y, Chen Y, Wang J, Zhang Q, Wang Y, Xu Y, Li X, Wang J, Wang X. Tang Y, et al. Among authors: wang x, wang j, wang y. Endocr Connect. 2023 Sep 4;12(10):e230029. doi: 10.1530/EC-23-0029. Print 2023 Oct 1. Endocr Connect. 2023. PMID: 37493574 Free PMC article.

7

[Identification of a child with Teebi hypertelorism syndrome 1 due to variant of SPECC1L gene].

Li Z, Wang Y, Li X, Feng B, Gu S, Yang F, Chang G, Wang J, Wang X. Li Z, et al. Among authors: wang x, wang j, wang y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Aug 10;40(8):998-1003. doi: 10.3760/cma.j.cn511374-20220823-00574. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37532501 Chinese.

8

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.

9

Clinical characteristics and genetic analysis of a child with specific type of diabetes mellitus caused by missense mutation of GATA6 gene.

Ying L, Ding Y, Li J, Zhang Q, Chang G, Yu T, Wang J, Zhu Z, Wang X. Ying L, et al. Among authors: wang x, wang j. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Dec 13;52(6):732-737. doi: 10.3724/zdxbyxb-2023-0351. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023. PMID: 38105674 Free PMC article. Chinese, English.

10

Autosomal dominant neurodevelopmental disorders associated with KIF1A gene variants in 6 pediatric patients.

Lin J, Li N, Yao R, Yu T, Wang X, Wang J. Lin J, et al. Among authors: wang x, wang j. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Dec 12;52(6):693-700. doi: 10.3724/zdxbyxb-2023-0457. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023. PMID: 38105687 Free PMC article. Chinese, English.

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