Liang M - Search Results

1

Rare variant of TBL1XR1 in West syndrome: A case report.

Shen Y, Yuan M, Luo H, Yang Z, Liang M, Gan J. Shen Y, et al. Among authors: liang m. Mol Genet Genomic Med. 2022 Jul;10(7):e1991. doi: 10.1002/mgg3.1991. Epub 2022 May 25. Mol Genet Genomic Med. 2022. PMID: 35611576 Free PMC article. Review.

2

Exon skipping caused by a complex structural variation in SH2D1A resulted in X-linked lymphoproliferative syndrome type 1.

Wu L, Yang F, Wang J, Yang F, Liang M, Yang H. Wu L, et al. Among authors: liang m. Mol Genet Genomic Med. 2022 Mar;10(3):e1873. doi: 10.1002/mgg3.1873. Epub 2022 Jan 29. Mol Genet Genomic Med. 2022. PMID: 35092357 Free PMC article.

3

Pyridoxine-responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review.

Chen J, Tao Q, Fan L, Shen Y, Liu J, Luo H, Yang Z, Liang M, Gan J. Chen J, et al. Among authors: liang m. Mol Genet Genomic Med. 2022 Oct;10(10):e2024. doi: 10.1002/mgg3.2024. Epub 2022 Jul 30. Mol Genet Genomic Med. 2022. PMID: 35906921 Free PMC article. Review.

4

Anti-AQP4-IgG-positive Leigh syndrome: A case report and review of the literature.

Chen J, Wang J, Gan J, Luo R, Yang Z, Liang M, Chen X. Chen J, et al. Among authors: liang m. Front Pediatr. 2023 Feb 6;11:1046731. doi: 10.3389/fped.2023.1046731. eCollection 2023. Front Pediatr. 2023. PMID: 36814591 Free PMC article.

5

A de novo variant of BICRA results in Coffin-Siris syndrome 12.

Tu Y, Fang C, Xu J, Zhou Y, Liang M, Yang Z. Tu Y, et al. Among authors: liang m. Mol Genet Genomic Med. 2023 Nov;11(11):e2250. doi: 10.1002/mgg3.2250. Epub 2023 Jul 24. Mol Genet Genomic Med. 2023. PMID: 37485815 Free PMC article.

6

Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cysts.

Zha J, Chen Y, Cao F, Xu Y, Yang Z, Wen S, Liang M, Wu H, Zhong J. Zha J, et al. Among authors: liang m. Mol Genet Genomic Med. 2024 Feb;12(2):e2394. doi: 10.1002/mgg3.2394. Mol Genet Genomic Med. 2024. PMID: 38337154 Free PMC article.

7

De novo variants of IRF2BPL result in developmental epileptic disorder.

Wang Y, Ke Z, Li Y, Qiu M, Liu J, Yang Z, Wen S, Liang M, Chen S. Wang Y, et al. Among authors: liang m. Orphanet J Rare Dis. 2024 Mar 13;19(1):121. doi: 10.1186/s13023-024-03130-z. Orphanet J Rare Dis. 2024. PMID: 38481258 Free PMC article.

8

Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation.

Sun H, Liu X, Hao X, Zhou X, Wang J, Han J, Liang M, Zhang H, He Y. Sun H, et al. Among authors: liang m. Front Genet. 2022 Feb 24;13:821226. doi: 10.3389/fgene.2022.821226. eCollection 2022. Front Genet. 2022. PMID: 35281812 Free PMC article.

9

ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay.

Zhao S, Zhang X, Yang L, Wang Y, Jia S, Li X, Wang Z, Yang F, Liang M, Wang X, Wang D. Zhao S, et al. Among authors: liang m. J Hum Genet. 2023 Sep;68(9):589-597. doi: 10.1038/s10038-023-01145-1. Epub 2023 May 10. J Hum Genet. 2023. PMID: 37161035

10

A Heterozygous Variant of FGF13 Caused X-Linked Developmental and Epileptic Encephalopathy 90 in a Chinese Family.

Cheng H, Miao P, Wang Y, Guo Y, Gao L, Lou Y, Yang F, Liang M, Feng J. Cheng H, et al. Among authors: liang m. Cytogenet Genome Res. 2023;163(1-2):36-41. doi: 10.1159/000531932. Epub 2023 Aug 3. Cytogenet Genome Res. 2023. PMID: 37536293

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