Ma G.-C.Chang S.-D.Chang Y.Chang S.-P.Yang C.-W.MING-JEN LEELee T.-H.Chen M.2020-11-032020-11-0320080015-0282https://www.scopus.com/inward/record.uri?eid=2-s2.0-52949112309&doi=10.1016%2fj.fertnstert.2007.10.075&partnerID=40&md5=b8e57b995408d6caf898237ed71f56e2https://scholars.lib.ntu.edu.tw/handle/123456789/519573We 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.[SDGs]SDG3endonuclease; 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, Prenataljournal article10.1016/j.fertnstert.2007.10.075182493792-s2.0-52949112309