Výsledky vyhledávání - "Ding-Yuan MA"

[Molecular diagnosis of OTC gene mutation in a Chinese family with ornithine transcarbamylase deficiency]

Autor: Lu-lu, Meng, Tao, Jiang, Ling, Qin, Ding-yuan, Ma, Yu-lin, Chen, Shu-ping, Han, Zhang-bin, Yu, Xi-ron, Guo, Ping, Hu, Zheng-feng, Xu

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 30(2)

To detect potential mutations of OTC gene in a male infant affected with ornithine transcarbamylase deficiency.Genomic DNA were isolated from peripheral blood samples of family members and 100 healthy individuals. Potential mutations of the 10 exons

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cb7633f8f0c6f77c13e6e8bec86eced6
https://pubmed.ncbi.nlm.nih.gov/23568734

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[Development and application of a method for molecular diagnosis of 21-hydroxylase deficiency]

Autor: Ding-yuan, Ma, Yun, Sun, Yulin, Chen, Bing, Yang, Jian, Cheng, Mei-lian, Huang, Jin, Zhang, Jing-jing, Zhang, Ping, Hu, Ying, Lin, Tao, Jiang, Zheng-feng, Xu

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 30(1)

To develop a method for elucidating genetic basis of 21-hydroxylase deficiency.Sanger sequencing of entire 21-hydroxylase coding gene CYP21A2 was carried out to detect point mutations, and multiplex ligation-dependent probe amplification (MLPA) and l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cd786af0f681def63f2b1ff2c73f9c4b
https://pubmed.ncbi.nlm.nih.gov/23450479

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[Prenatal diagnosis of two fetuses with de novo small supernumerary markers by single nucleotide polymorphism array based comparative genomic hybridization]

Autor: Xiu-qing, Ji, Li, Li, Ying, Lin, Ding-yuan, Ma, An, Liu, Jing-jing, Zhang, Jian, Cheng, Jing, Zhou, Ping, Hu, Zheng-feng, Xu

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 29(5)

To explore the origins of small de novo mosaic supernumerary marker chromosomes (mars) in two fetuses, and to assess the feasibility of single nucleotide polymorphism array-based comparative genomic hybridization (SNP-array CGH) for prenatal molecula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a34b878bd22f5135d3b9f62bb98c289f
https://pubmed.ncbi.nlm.nih.gov/23042383

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[Array-based comparative genomic hybridization detection of copy number variations in a fetus with hypoplastic left-heart syndrome]

Autor: Yan, Wang, Ding-yuan, Ma, Yin-qiu, Yang, Jing, Zhou, Xiao-yan, Zhou, Xiu-qing, Ji, Jian, Chen, Li, Cao, Ping, Hu, Zheng-feng, Xu

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 29(4)

To detect the copy number variations (CNVs) of a fetus with hypoplastic left-heart syndrome, and to assess the value of array-based comparative genomic hybridization (array-CGH) for molecular cytogenetic diagnosis.The whole genome of a fetus with nor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::241e03f8d2ed374f30f74f51e0e30067
https://pubmed.ncbi.nlm.nih.gov/22875502

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[ASS1 mutation leading to citrullinemia I in a Chinese Han family]

Autor: Ping, Hu, Xiao-yan, Zhou, Ding-yuan, Ma, Yun, Sun, Xiao-juan, Zhang, Shu-ping, Han, Zhang-bin, Yu, Tao, Jiang, Yu-lin, Chen, Zhengfeng, Xu

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 28(6)

To investigate potential mutation of the ASS1 gene in a male infant with acute citrullinemia type I.Genomic DNA was prepared from peripheral blood samples of the family members. Mutation analysis of the 14 ASS1 exons was carried out by PCR and direct

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::91991ca8db6b833d1deb6ef9c9c0d061
https://pubmed.ncbi.nlm.nih.gov/22161093

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[Application of multiplex ligation-dependent probe amplification for rapid detection of aneuploidies in prenatal diagnosis]

Autor: Ding-yuan, Ma, Ping, Hu, Jing-jing, Zhang, Long, Yi, Xiu-qing, Ji, Chi, Yang, Jian, Cheng, Li, Li, Ying, Lin, Zheng-feng, Xu

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 28(5)

To determine the applicability of multiplex ligation-dependent probe amplification (MLPA) for rapid detection of aneuploidies in prenatal diagnosis.A total of 561 prenatal samples were analyzed in parallel by MLPA and traditional karyotyping. Another

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e3fa03b9f1ee636f2ce8db13a2db8e40
https://pubmed.ncbi.nlm.nih.gov/21983731

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[Detection of cryptic copy number variations in a fetus with congenital heart disease by array-based comparative genomic hybridization]

Autor: Ping, HU, Yan, WANG, Xiu-qing, JI, Ying, LIN, Li, Li, Xiao-yan, ZHOU, Jian, CHEN, Ding-yuan, MA, Li, CAO, Zhengfeng, Xu

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 28(2)

To detect the copy number variation (CNV) of a fetus with interrupted aortic arch and ventricular septal defect, in order to explore the underlying genetic causes of the congenital malformation, and investigate the feasibility of array-based comparat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c3efaa5aeccc945207f19b2f63c0015b
https://pubmed.ncbi.nlm.nih.gov/21462121

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