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Evaluation of a novel screening method for fetal aneuploidy using cell-free DNA in maternal plasma.
Porreco RP, Sekedat M, Bombard A, Garite TJ, Maurel K, Marusiak B, Adair D, Bleich A, Combs CA, Kramer W, Longo S, Nageotte M, Samuel A, Vanderhoeven J, Buis J, Jacobs KB, Stoerker J. Porreco RP, et al. Among authors: bombard a. J Med Screen. 2020 Mar;27(1):1-8. doi: 10.1177/0969141319873682. Epub 2019 Sep 11. J Med Screen. 2020. PMID: 31510865 Free article.
Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA.
Porreco RP, Garite TJ, Maurel K, Marusiak B; Obstetrix Collaborative Research Network; Ehrich M, van den Boom D, Deciu C, Bombard A. Porreco RP, et al. Among authors: bombard a. Am J Obstet Gynecol. 2014 Oct;211(4):365.e1-12. doi: 10.1016/j.ajog.2014.03.042. Epub 2014 Mar 19. Am J Obstet Gynecol. 2014. PMID: 24657131
Noninvasive prenatal detection of aneuploidy.
Robinson C, van den Boom D, Bombard AT. Robinson C, et al. Clin Obstet Gynecol. 2014 Mar;57(1):210-25. doi: 10.1097/GRF.0000000000000016. Clin Obstet Gynecol. 2014. PMID: 24351443 Review.
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting.
Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, Lu V, McCullough R, McCarthy E, Nygren AO, Dean J, Tang L, Hutchison D, Lu T, Wang H, Angkachatchai V, Oeth P, Cantor CR, Bombard A, van den Boom D. Ehrich M, et al. Among authors: bombard a. Am J Obstet Gynecol. 2011 Mar;204(3):205.e1-11. doi: 10.1016/j.ajog.2010.12.060. Epub 2011 Feb 18. Am J Obstet Gynecol. 2011. PMID: 21310373
The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.
Farkas DH, Miltgen NE, Stoerker J, van den Boom D, Highsmith WE, Cagasan L, McCullough R, Mueller R, Tang L, Tynan J, Tate C, Bombard A. Farkas DH, et al. Among authors: bombard a. J Mol Diagn. 2010 Sep;12(5):611-9. doi: 10.2353/jmoldx.2010.090233. Epub 2010 Jul 8. J Mol Diagn. 2010. PMID: 20616359 Free PMC article.
Maternal plasma DNA testing for aneuploidy in pregnancies achieved by assisted reproductive technologies.
Lambert-Messerlian G, Kloza EM, Williams J 3rd, Loucky J, O'Brien B, Wilkins-Haug L, Mahoney MJ, De Biasio P, Borrell A, Ehrich M, van den Boom D, Bombard AT, Deciu C, Palomaki GE. Lambert-Messerlian G, et al. Among authors: bombard at. Genet Med. 2014 May;16(5):419-22. doi: 10.1038/gim.2013.149. Epub 2013 Oct 3. Genet Med. 2014. PMID: 24091801 Free article.
78 results