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rdf:type |
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lifeskim:mentions |
umls-concept:C0032105,
umls-concept:C0152096,
umls-concept:C0456603,
umls-concept:C0521457,
umls-concept:C0678804,
umls-concept:C0871935,
umls-concept:C0936012,
umls-concept:C1511790,
umls-concept:C1655731,
umls-concept:C1858460,
umls-concept:C1880496
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pubmed:issue |
12
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pubmed:dateCreated |
2006-12-1
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pubmed:abstractText |
The discovery of cell-free fetal DNA in maternal plasma has opened up new possibilities for noninvasive prenatal diagnosis. However, the use of maternal plasma fetal DNA for the direct detection of fetal chromosomal aneuploidies has not been reported. We postulate that the aneuploidy status of a fetus could be revealed by an epigenetic allelic ratio approach, i.e., by analyzing the allelic ratio of a single-base variation present within DNA molecules exhibiting a placental-specific epigenetic signature in maternal plasma.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0009-9147
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
52
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2194-202
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:17040955-Chromosomes, Human, Pair 18,
pubmed-meshheading:17040955-DNA,
pubmed-meshheading:17040955-DNA Methylation,
pubmed-meshheading:17040955-Epigenesis, Genetic,
pubmed-meshheading:17040955-Feasibility Studies,
pubmed-meshheading:17040955-Female,
pubmed-meshheading:17040955-Gene Frequency,
pubmed-meshheading:17040955-Genes, Tumor Suppressor,
pubmed-meshheading:17040955-Genotype,
pubmed-meshheading:17040955-Humans,
pubmed-meshheading:17040955-Mass Spectrometry,
pubmed-meshheading:17040955-Placenta,
pubmed-meshheading:17040955-Polymorphism, Single Nucleotide,
pubmed-meshheading:17040955-Pregnancy,
pubmed-meshheading:17040955-Prenatal Diagnosis,
pubmed-meshheading:17040955-Promoter Regions, Genetic,
pubmed-meshheading:17040955-Reference Values,
pubmed-meshheading:17040955-Sensitivity and Specificity,
pubmed-meshheading:17040955-Serpins,
pubmed-meshheading:17040955-Trisomy
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pubmed:year |
2006
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pubmed:articleTitle |
Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: Theoretical and empirical considerations.
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pubmed:affiliation |
Department of Chemical Pathology, Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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