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rdf:type |
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lifeskim:mentions |
umls-concept:C0004903,
umls-concept:C0015965,
umls-concept:C0025663,
umls-concept:C0041618,
umls-concept:C0205314,
umls-concept:C0392762,
umls-concept:C0439831,
umls-concept:C0678804,
umls-concept:C0679622,
umls-concept:C0750484,
umls-concept:C1416613
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pubmed:issue |
4
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pubmed:dateCreated |
2008-10-20
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|
pubmed:abstractText |
We described a simplified and high-performance test (E-Q-PCR) for rapid assessment of the DNA methylation status at LIT1, a major genetic locus of Beckwith-Wiedemann syndrome (BWS). The E-Q-PCR test can detect and quantify the methylation changes between BWS fetuses and unaffected individuals in aminocytes as well as in lymphocytes and can be completed in 1 working day, and thus is a useful method for prenatal molecular diagnosis of BWS.
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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 |
Oct
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pubmed:issn |
1556-5653
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pubmed:author |
|
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pubmed:issnType |
Electronic
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pubmed:volume |
90
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1279-82
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:18249379-Beckwith-Wiedemann Syndrome,
pubmed-meshheading:18249379-DNA Methylation,
pubmed-meshheading:18249379-DNA Mutational Analysis,
pubmed-meshheading:18249379-Genetic Predisposition to Disease,
pubmed-meshheading:18249379-Genetic Testing,
pubmed-meshheading:18249379-Humans,
pubmed-meshheading:18249379-Potassium Channels, Voltage-Gated,
pubmed-meshheading:18249379-Prenatal Diagnosis,
pubmed-meshheading:18249379-Reproducibility of Results,
pubmed-meshheading:18249379-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:18249379-Sensitivity and Specificity,
pubmed-meshheading:18249379-Ultrasonography, Prenatal
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|
pubmed:year |
2008
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pubmed:articleTitle |
Rapid prenatal confirmation of LIT1 hypomethylation using a novel quantitative method (E-Q-PCR) in fetuses with Beckwith-Wiedemann syndrome impressed with ultrasonography.
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pubmed:affiliation |
Department of Medical Research, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Evaluation Studies
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