Ma N - Search Results

1

Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases.

Ma N, Zhu Z, Hu J, Pang J, Yang S, Liu J, Chen J, Tang W, Kuang H, Hu R, Li Z, Wang H, Peng Y, Xi H. Ma N, et al. Front Genet. 2023 Mar 10;14:1121121. doi: 10.3389/fgene.2023.1121121. eCollection 2023. Front Genet. 2023. PMID: 36968600 Free PMC article.

2

A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome.

Liu J, Hu H, Ma N, Jia Z, Zhou Y, Hu J, Wang H. Liu J, et al. Among authors: ma n. Mol Cytogenet. 2016 Jul 25;9:54. doi: 10.1186/s13039-016-0267-3. eCollection 2016. Mol Cytogenet. 2016. PMID: 27462370 Free PMC article.

3

A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation.

Chen J, Ma N, Zhao X, Li W, Zhang Q, Yuan S, Tan YQ, Lu G, Lin G, Du J. Chen J, et al. Among authors: ma n. J Hum Genet. 2019 Mar;64(3):207-214. doi: 10.1038/s10038-018-0550-8. Epub 2019 Jan 7. J Hum Genet. 2019. PMID: 30617278

4

[Prenatal diagnosis of monochorionic-diamniotic twins discordant for 45,X/46,XX mosaicism].

Hu J, Xi H, Ma N, Pang J, Luo Y, Jia Z, Wang H. Hu J, et al. Among authors: ma n. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Mar 10;36(3):260-262. doi: 10.3760/cma.j.issn.1003-9406.2019.03.017. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 30835360 Chinese.

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

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.

8

[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.

9

[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.

10

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.

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