Ma N - Search Results

1

Whole exome sequencing reveals two novel mutations in GREB1L in two chinese families with renal agenesis.

Xie F, Zhou L, Luo P, Xi H, Yu W, Ma N, Wang D, Peng Y. Xie F, et al. Among authors: ma n. QJM. 2024 Feb 26:hcae036. doi: 10.1093/qjmed/hcae036. Online ahead of print. QJM. 2024. PMID: 38410081 No abstract available.

2

Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I.

Liu J, Wang Z, Yan H, Teng Y, Shi Q, Chen J, Tang W, Yu W, Peng Y, Xi H, Ma N, Liang D, Li Z, Wu L. Liu J, et al. Among authors: ma n. Front Genet. 2023 Jul 7;14:1172947. doi: 10.3389/fgene.2023.1172947. eCollection 2023. Front Genet. 2023. PMID: 37485339 Free PMC article.

3

Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.

Liu J, Liu Q, Yang S, Ma N, Pang J, Peng Y, Xi H, Jia Z, Luo Y, Jiang M, Teng Y, Yu W, Li Z, Wang H. Liu J, et al. Among authors: ma n. Mol Genet Genomic Med. 2021 Aug;9(8):e1750. doi: 10.1002/mgg3.1750. Epub 2021 Jul 22. Mol Genet Genomic Med. 2021. PMID: 34293831 Free PMC article. Review.

4

A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family.

Xi H, Peng Y, Xie W, Pang J, Ma N, Yang S, Peng J, Wang H. Xi H, et al. Among authors: ma n. Mol Cytogenet. 2020 Jun 4;13:20. doi: 10.1186/s13039-020-00483-5. eCollection 2020. Mol Cytogenet. 2020. PMID: 32518592 Free PMC article.

5

[Genetic analysis of a child with mental retardation and hypospadia].

Ma N, Pang J, Peng Y, Jia Z, Xi H, Liu G, Zhou Y, Wang H. Ma N, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Dec 10;36(12):1199-1202. doi: 10.3760/cma.j.issn.1003-9406.2019.12.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31813147 Chinese.

6

Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome.

Peng Y, Pang J, Hu J, Jia Z, Xi H, Ma N, Yang S, Liu J, Huang X, Tang C, Wang H. Peng Y, et al. Among authors: ma n. Mol Genet Genomic Med. 2020 Aug;8(8):e1312. doi: 10.1002/mgg3.1312. Epub 2020 Jun 4. Mol Genet Genomic Med. 2020. PMID: 32500674 Free PMC article.

7

[Non-invasive prenatal testing and genetic analysis of a fetus with partial trisomy 21].

Ma N, Liu J, Hu J, Peng Y, Xi H, Jia Z, Hu R, Wang H. Ma N, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Oct 10;37(10):1079-1083. doi: 10.3760/cma.j.cn511374-20191121-00601. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32924105 Chinese.

8

[Genetic analysis of a pedigree with MECP duplication syndrome].

Liu J, Xi H, Peng Y, Pang J, Hu J, Ma N, Jia Z, Wang H. Liu J, et al. Among authors: ma n. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Oct 10;37(10):1146-1149. doi: 10.3760/cma.j.cn511374-20191014-00525. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32924122 Chinese.

9

Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism.

Ma N, Xi H, Chen J, Peng Y, Jia Z, Yang S, Hu J, Pang J, Zhang Y, Hu R, Wang H, Liu J. Ma N, et al. BMC Med Genomics. 2021 Feb 25;14(1):56. doi: 10.1186/s12920-021-00899-x. BMC Med Genomics. 2021. PMID: 33632221 Free PMC article.

10

Clinical and genetic analysis of classical Ehlers-Danlos syndrome patient caused by synonymous mutation in COL5A2.

Ma N, Zhu Z, Liu J, Peng Y, Zhao X, Tang W, Jia Z, Xi H, Gao B, Wang H, Du J. Ma N, et al. Mol Genet Genomic Med. 2021 May;9(5):e1632. doi: 10.1002/mgg3.1632. Epub 2021 Apr 8. Mol Genet Genomic Med. 2021. PMID: 33834621 Free PMC article.

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