Luo M - Search Results

1

[A case of mental retardation caused by a frameshift variant of SYNGAP1 gene].

Shen Y, Luo G, Lu C, Tan Y, Cheng T, Qian X, Li N, Luo M, Cao Z, Ma X, Zhao Y. Shen Y, et al. Among authors: luo g, luo m. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Jan 10;40(1):57-61. doi: 10.3760/cma.j.cn511374-20220120-00047. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 36585002 Chinese.

2

Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.

Luo M, Cao L, Cao Z, Ma S, Shen Y, Yang D, Lu C, Lin Z, Liu Z, Yu Y, Cai R, Chen C, Gao H, Wang X, Cao M, Ma X. Luo M, et al. Mol Genet Genomic Med. 2019 Dec;7(12):e1004. doi: 10.1002/mgg3.1004. Epub 2019 Oct 18. Mol Genet Genomic Med. 2019. PMID: 31625690 Free PMC article.

3

Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome.

Shen Y, Wang H, Liu Z, Luo M, Ma S, Lu C, Cao Z, Yu Y, Cai R, Chen C, Li Q, Gao H, Peng Y, Xu B, Ma X. Shen Y, et al. Among authors: luo m. BMC Med Genet. 2020 Oct 1;21(1):192. doi: 10.1186/s12881-020-01130-x. BMC Med Genet. 2020. PMID: 33004012 Free PMC article.

4

Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome.

Luo M, He R, Lin Z, Shen Y, Zhang G, Cao Z, Lu C, Meng D, Zhang J, Ma X, Cao M. Luo M, et al. Front Genet. 2020 Oct 14;11:576235. doi: 10.3389/fgene.2020.576235. eCollection 2020. Front Genet. 2020. PMID: 33193692 Free PMC article.

5

Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.

Luo M, Lin Z, Zhu T, Jin M, Meng D, He R, Cao Z, Shen Y, Lu C, Cai R, Zhao Y, Wang X, Li H, Wu S, Zou X, Luo G, Cao L, Huang M, Jiao H, Gao H, Sui R, Zhao C, Ma X, Cao M. Luo M, et al. Among authors: luo g. Genet Med. 2021 Jun;23(6):1041-1049. doi: 10.1038/s41436-021-01106-z. Epub 2021 Feb 2. Genet Med. 2021. PMID: 33531668 Free article.

6

Prevention and Control of Pathogens Based on Big-Data Mining and Visualization Analysis.

Chen CX, Sun LN, Hou XX, Du PC, Wang XL, Du XC, Yu YF, Cai RK, Yu L, Li TJ, Luo MN, Shen Y, Lu C, Li Q, Zhang C, Gao HF, Ma X, Lin H, Cao ZF. Chen CX, et al. Front Mol Biosci. 2021 Feb 25;7:626595. doi: 10.3389/fmolb.2020.626595. eCollection 2020. Front Mol Biosci. 2021. PMID: 33718431 Free PMC article.

7

Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants.

Zhang X, Shen Y, Li P, Cai R, Lu C, Li Q, Chen C, Yu Y, Cheng T, Wang X, Luo M, Cao M, Cao Z, Ma X. Zhang X, et al. Among authors: luo m. Mol Genet Genomic Med. 2021 Jun;9(6):e1682. doi: 10.1002/mgg3.1682. Epub 2021 Apr 6. Mol Genet Genomic Med. 2021. PMID: 33822487 Free PMC article.

8

Correction to: Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.

Luo M, Lin Z, Zhu T, Jin M, Meng D, He R, Cao Z, Shen Y, Lu C, Cai R, Zhao Y, Wang X, Li H, Wu S, Zou X, Luo G, Cao L, Huang M, Jiao H, Gao H, Sui R, Zhao C, Ma X, Cao M. Luo M, et al. Among authors: luo g. Genet Med. 2021 Jun;23(6):1175. doi: 10.1038/s41436-021-01191-0. Genet Med. 2021. PMID: 33972723 Free article. No abstract available.

9

Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.

Zhu T, Shen Y, Sun Z, Han X, Wei X, Li W, Lu C, Cheng T, Zou X, Li H, Cao Z, Gao H, Ma X, Luo M, Sui R. Zhu T, et al. Among authors: luo m. Am J Ophthalmol. 2023 Apr;248:96-106. doi: 10.1016/j.ajo.2022.11.023. Epub 2022 Dec 7. Am J Ophthalmol. 2023. PMID: 36493848

10

A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome.

Shen Y, Lu C, Cheng T, Cao Z, Chen C, Ma X, Gao H, Luo M. Shen Y, et al. Among authors: luo m. BMC Med Genomics. 2023 Jan 12;16(1):4. doi: 10.1186/s12920-023-01438-6. BMC Med Genomics. 2023. PMID: 36635699 Free PMC article.

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