Li M - Search Results

1

A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children.

Lin L, Li M, Luo J, Li P, Zhou S, Yang Y, Chen K, Weng Y, Ge X, Mireguli M, Wei H, Yang H, Li G, Sun Y, Cui L, Zhang S, Chen J, Zeng G, Xu L, Luo X, Shen Y. Lin L, et al. Among authors: li g, li m, li p. J Clin Endocrinol Metab. 2021 Jun 16;106(7):e2711-e2719. doi: 10.1210/clinem/dgab088. J Clin Endocrinol Metab. 2021. PMID: 33606014 Free PMC article.

2

Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.

Gui B, Song Y, Hu X, Li H, Qin Z, Su J, Li C, Fan X, Li M, Luo J, Feng Y, Song L, Chen S, Gong C, Shen Y. Gui B, et al. Among authors: li c, li h, li m. Gene. 2018 May 15;654:110-115. doi: 10.1016/j.gene.2018.02.047. Epub 2018 Feb 17. Gene. 2018. PMID: 29462647

3

Two novel mutations in DNAJC12 identified by whole-exome sequencing in a patient with mild hyperphenylalaninemia.

Li M, Yang Q, Yi S, Qin Z, Luo J, Fan X. Li M, et al. Mol Genet Genomic Med. 2020 Aug;8(8):e1303. doi: 10.1002/mgg3.1303. Epub 2020 Jun 10. Mol Genet Genomic Med. 2020. PMID: 32519510 Free PMC article.

4

Cardio-facio-cutaneous syndrome-associated pathogenic MAP2K1 variants activate autophagy.

Chen J, Che L, Xu C, Zhao S, Yang J, Li M, Li G, Shen Y. Chen J, et al. Among authors: li g, li m. Gene. 2020 Apr 5;733:144369. doi: 10.1016/j.gene.2020.144369. Epub 2020 Jan 20. Gene. 2020. PMID: 31972311

5

Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.

Su J, Lu W, Li M, Zhang Q, Chen F, Yi S, Yang Q, Yi S, Zhou X, Huang L, Shen Y, Luo J, Qin Z. Su J, et al. Among authors: li m. Mol Genet Genomic Med. 2021 Apr;9(4):e1624. doi: 10.1002/mgg3.1624. Epub 2021 Mar 16. Mol Genet Genomic Med. 2021. PMID: 33724704 Free PMC article.

6

Novel and recurrent ASPM mutations of founder effect in Chinese population.

Li M, Luo J, Yang Q, Chen F, Chen J, Qin J, He W, Chen J, Yi S, Qin Z, Yi S, Huang L, Qiu X, Pan P, Luo J, Shen Y. Li M, et al. Brain Dev. 2022 Sep;44(8):540-545. doi: 10.1016/j.braindev.2022.04.007. Epub 2022 Apr 28. Brain Dev. 2022. PMID: 35491272

7

The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy.

Hu X, Wu D, Li Y, Wei L, Li X, Qin M, Li H, Li M, Chen S, Gong C, Shen Y. Hu X, et al. Among authors: li y, li x, li h, li m. BMC Med Genomics. 2020 Dec 4;13(1):181. doi: 10.1186/s12920-020-00831-9. BMC Med Genomics. 2020. PMID: 33276791 Free PMC article.

8

Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency.

Cheng X, Tang F, Hu X, Li H, Li M, Fu Y, Yan L, Li Z, Gou P, Su N, Gong C, He W, Xiang R, Bu D, Shen Y. Cheng X, et al. Among authors: li z, li h, li m. Mol Genet Genomic Med. 2019 Apr;7(4):e00596. doi: 10.1002/mgg3.596. Epub 2019 Feb 6. Mol Genet Genomic Med. 2019. PMID: 30729726 Free PMC article.

9

A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.

Yi S, Zhang Y, Qin Z, Yi S, Zheng H, Luo J, Li Q, Wang J, Yang Q, Li M, Chen F, Zhang Q, Zhang Q, Shen Y. Yi S, et al. Among authors: li m, li q. Mol Genet Genomic Med. 2021 Jun;9(6):e1683. doi: 10.1002/mgg3.1683. Epub 2021 May 12. Mol Genet Genomic Med. 2021. PMID: 33978323 Free PMC article.

10

A novel variant of IHH in a Chinese family with brachydactyly type 1.

Yang Q, Wang J, Tian X, Shen F, Lan J, Zhang Q, Fan X, Yi S, Li M, Shen Y. Yang Q, et al. Among authors: li m. BMC Med Genet. 2020 Mar 24;21(1):60. doi: 10.1186/s12881-020-01000-6. BMC Med Genet. 2020. PMID: 32209048 Free PMC article.

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