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Discovery of epigenetic biomarkers for the noninvasive diagnosis of fetal disease.

Bunce K, Chu T, Surti U, Hogge WA, Peters DG.

Prenat Diagn. 2012 Jun;32(6):542-9. doi: 10.1002/pd.3853. Epub 2012 Apr 11.


A microarray-based approach for the identification of epigenetic biomarkers for the noninvasive diagnosis of fetal disease.

Chu T, Burke B, Bunce K, Surti U, Allen Hogge W, Peters DG.

Prenat Diagn. 2009 Nov;29(11):1020-30. doi: 10.1002/pd.2335.


Whole-genome fetal and maternal DNA methylation analysis using MeDIP-NGS for the identification of differentially methylated regions.

Keravnou A, Ioannides M, Tsangaras K, Loizides C, Hadjidaniel MD, Papageorgiou EA, Kyriakou S, Antoniou P, Mina P, Achilleos A, Neofytou M, Kypri E, Sismani C, Koumbaris G, Patsalis PC.

Genet Res (Camb). 2016 Nov 11;98:e15.


Systematic search for placental DNA-methylation markers on chromosome 21: toward a maternal plasma-based epigenetic test for fetal trisomy 21.

Chim SS, Jin S, Lee TY, Lun FM, Lee WS, Chan LY, Jin Y, Yang N, Tong YK, Leung TY, Lau TK, Ding C, Chiu RW, Lo YM.

Clin Chem. 2008 Mar;54(3):500-11. doi: 10.1373/clinchem.2007.098731. Epub 2008 Jan 17.


Candidate epigenetic biomarkers for non-invasive prenatal diagnosis of Down syndrome.

Old RW, Crea F, Puszyk W, Hultén MA.

Reprod Biomed Online. 2007 Aug;15(2):227-35.


Non-invasive prenatal diagnosis of trisomy 21 by dosage ratio of fetal chromosome-specific epigenetic markers in maternal plasma.

Zhang M, Li T, Chen J, Li L, Zhou C, Wang Y, Liu W, Zhang Y.

J Huazhong Univ Sci Technolog Med Sci. 2011 Oct;31(5):687-92. doi: 10.1007/s11596-011-0583-0. Epub 2011 Oct 25.


Sites of differential DNA methylation between placenta and peripheral blood: molecular markers for noninvasive prenatal diagnosis of aneuploidies.

Papageorgiou EA, Fiegler H, Rakyan V, Beck S, Hulten M, Lamnissou K, Carter NP, Patsalis PC.

Am J Pathol. 2009 May;174(5):1609-18. doi: 10.2353/ajpath.2009.081038. Epub 2009 Apr 6.


Epigenome-wide DNA methylation assay reveals placental epigenetic markers for noninvasive fetal single-nucleotide polymorphism genotyping in maternal plasma.

Ou X, Wang H, Qu D, Chen Y, Gao J, Sun H.

Transfusion. 2014 Oct;54(10):2523-33. doi: 10.1111/trf.12659. Epub 2014 Apr 18.


Prenatal diagnosis of a hypermethylated full fragile X mutation in chorionic villi of a male fetus.

Suzumori K, Yamauchi M, Seki N, Kondo I, Hori T.

J Med Genet. 1993 Sep;30(9):785-7.


Noninvasive prenatal detection of trisomy 21 by an epigenetic-genetic chromosome-dosage approach.

Tong YK, Jin S, Chiu RW, Ding C, Chan KC, Leung TY, Yu L, Lau TK, Lo YM.

Clin Chem. 2010 Jan;56(1):90-8. doi: 10.1373/clinchem.2009.134114. Epub 2009 Oct 22.


Systematic identification of placental epigenetic signatures for the noninvasive prenatal detection of Edwards syndrome.

Tsui DW, Lam YM, Lee WS, Leung TY, Lau TK, Lau ET, Tang MH, Akolekar R, Nicolaides KH, Chiu RW, Lo YM, Chim SS.

PLoS One. 2010 Nov 30;5(11):e15069. doi: 10.1371/journal.pone.0015069.


Microarray-Based Analysis of Methylation Status of CpGs in Placental DNA and Maternal Blood DNA--Potential New Epigenetic Biomarkers for Cell Free Fetal DNA-Based Diagnosis.

Hatt L, Aagaard MM, Graakjaer J, Bach C, Sommer S, Agerholm IE, Kølvraa S, Bojesen A.

PLoS One. 2015 Jul 31;10(7):e0128918. doi: 10.1371/journal.pone.0128918. eCollection 2015.


DNA methylome profiling of maternal peripheral blood and placentas reveal potential fetal DNA markers for non-invasive prenatal testing.

Xiang Y, Zhang J, Li Q, Zhou X, Wang T, Xu M, Xia S, Xing Q, Wang L, He L, Zhao X.

Mol Hum Reprod. 2014 Sep;20(9):875-84. doi: 10.1093/molehr/gau048. Epub 2014 Jul 4.


Structural and regulatory characterization of the placental epigenome at its maternal interface.

Chu T, Handley D, Bunce K, Surti U, Hogge WA, Peters DG.

PLoS One. 2011 Feb 23;6(2):e14723. doi: 10.1371/journal.pone.0014723.


Novel Epigenetic Markers on Chromosome 21 for Noninvasive Prenatal Testing of Fetal Trisomy 21.

Lee DE, Lim JH, Kim MH, Park SY, Ryu HM.

J Mol Diagn. 2016 May;18(3):378-87. doi: 10.1016/j.jmoldx.2015.12.002. Epub 2016 Mar 4.


Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing.

Lau TK, Chen F, Pan X, Pooh RK, Jiang F, Li Y, Jiang H, Li X, Chen S, Zhang X.

J Matern Fetal Neonatal Med. 2012 Aug;25(8):1370-4. doi: 10.3109/14767058.2011.635730. Epub 2012 Feb 24.


Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: Theoretical and empirical considerations.

Tong YK, Ding C, Chiu RW, Gerovassili A, Chim SS, Leung TY, Leung TN, Lau TK, Nicolaides KH, Lo YM.

Clin Chem. 2006 Dec;52(12):2194-202. Epub 2006 Oct 13.


Cell-free fetal DNA in maternal circulation after chorionic villous sampling.

Di Tommaso M, Seravalli V, Salvianti F, Bussani C, Pasquini L, Cordisco A, Pinzani P.

Prenat Diagn. 2013 Jul;33(7):695-9. doi: 10.1002/pd.4155. Epub 2013 May 31.


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