https://scholars.lib.ntu.edu.tw/handle/123456789/519573
標題: | Rapid prenatal confirmation of LIT1 hypomethylation using a novel quantitative method (E-Q-PCR) in fetuses with Beckwith-Wiedemann syndrome impressed with ultrasonography | 作者: | Ma G.-C. Chang S.-D. Chang Y. Chang S.-P. Yang C.-W. MING-JEN LEE Lee T.-H. Chen M. |
公開日期: | 2008 | 卷: | 90 | 期: | 4 | 起(迄)頁: | 1279-1282 | 來源出版物: | Fertility and Sterility | 摘要: | 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. ? 2008 American Society for Reproductive Medicine. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-52949112309&doi=10.1016%2fj.fertnstert.2007.10.075&partnerID=40&md5=b8e57b995408d6caf898237ed71f56e2 https://scholars.lib.ntu.edu.tw/handle/123456789/519573 |
ISSN: | 0015-0282 | DOI: | 10.1016/j.fertnstert.2007.10.075 | SDG/關鍵字: | endonuclease; protein lit1; unclassified drug; untranslated RNA; article; Beckwith Wiedemann syndrome; clinical article; DNA methylation; echography; female; fetus; gene locus; human; human cell; infant; leukocyte; lymphocyte; polymerase chain reaction; prenatal diagnosis; priority journal; quantitative analysis; Beckwith-Wiedemann Syndrome; DNA Methylation; DNA Mutational Analysis; Genetic Predisposition to Disease; Genetic Screening; Humans; Potassium Channels, Voltage-Gated; Prenatal Diagnosis; Reproducibility of Results; Reverse Transcriptase Polymerase Chain Reaction; Sensitivity and Specificity; Ultrasonography, Prenatal |
顯示於: | 醫學系 |
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