Mei SY - Search Results

1

[Autosomal dominant intellectual developmental disorder 60 with seizures: a case report].

Sun YY, Liu H, Liu M, Mei SY, Ma YL. Sun YY, et al. Among authors: mei sy. Zhongguo Dang Dai Er Ke Za Zhi. 2024 Dec 15;26(12):1362-1366. doi: 10.7499/j.issn.1008-8830.2408067. Zhongguo Dang Dai Er Ke Za Zhi. 2024. PMID: 39725401 Free PMC article. Chinese.

2

A novel variant in UBE3A in a family with multigenerational intellectual disability and developmental delay.

Zhao X, Zheng Y, Wang L, Wang Y, Mei S, Kong X. Zhao X, et al. Mol Genet Genomic Med. 2022 Apr;10(4):e1883. doi: 10.1002/mgg3.1883. Epub 2022 Feb 28. Mol Genet Genomic Med. 2022. PMID: 35225435 Free PMC article.

3

Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review.

Zhang XM, Xu KL, Kong JH, Dong G, Dong SJ, Yang ZX, Xu SJ, Wang L, Luo SY, Zhang YD, Zhou CC, Gu WY, Mei SY. Zhang XM, et al. Among authors: mei sy. J Hum Genet. 2024 May;69(5):197-203. doi: 10.1038/s10038-024-01230-z. Epub 2024 Feb 19. J Hum Genet. 2024. PMID: 38374166 Review.

4

Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability.

Liu J, Chen B, Liu Y, Kong J, Zhang B, Han L, Mei D, Ma CY, Shang Q, Xie Z, Xiao M, Mei S, Zhang Y, Gao C, Li D. Liu J, et al. Eur J Med Genet. 2022 Sep;65(9):104554. doi: 10.1016/j.ejmg.2022.104554. Epub 2022 Jul 3. Eur J Med Genet. 2022. PMID: 35793769

5

[Clinical and genetic analysis of two rare male patients with Rett syndrome].

Zheng X, Liu L, Wang Y, Wang Y, Wang H, Du Y, Gao L, Zhang Y, Mei S. Zheng X, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 May 10;39(5):488-493. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35598263 Chinese.

6

A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy.

Zhao X, Wang Y, Cai A, Mei S, Liu N, Kong X. Zhao X, et al. Eur J Med Genet. 2021 Jan;64(1):104101. doi: 10.1016/j.ejmg.2020.104101. Epub 2020 Nov 12. Eur J Med Genet. 2021. PMID: 33189936

7

[Clinical characteristics of children on prolonged mechanical ventilation due to different primary diseases].

Zhu JZ, Li Z, Cui LD, Mei SY, Li XL, Fang B, Qian SY, Cheng YB. Zhu JZ, et al. Among authors: mei sy. Zhongguo Dang Dai Er Ke Za Zhi. 2024 May 15;26(5):481-485. doi: 10.7499/j.issn.1008-8830.2311035. Zhongguo Dang Dai Er Ke Za Zhi. 2024. PMID: 38802908 Free PMC article. Chinese.

8

[Genetic analysis of a child with Dias-Logan syndrome due to variant of BCL11A gene].

Li L, Luo S, Zhang Y, Shang Q, Zhang W, Liu L, Zhang X, Mei S. Li L, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Sep 10;41(9):1096-1099. doi: 10.3760/cma.j.cn511374-20221209-00855. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 39217489 Chinese.

9

A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole-exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome.

Zhao X, Wang Y, Mei S, Kong X. Zhao X, et al. Mol Genet Genomic Med. 2020 Jun;8(6):e1234. doi: 10.1002/mgg3.1234. Epub 2020 Apr 21. Mol Genet Genomic Med. 2020. PMID: 32314541 Free PMC article.

10

[A case of simultaneous haploinsufficiency of A20 and methylmalonic aciduria].

Lin L, Wang HJ, Mei SY, Li Z, Cheng YB. Lin L, et al. Among authors: mei sy. Zhonghua Er Ke Za Zhi. 2023 Mar 2;61(3):266-268. doi: 10.3760/cma.j.cn112140-20220811-00722. Zhonghua Er Ke Za Zhi. 2023. PMID: 36849356 Chinese.

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