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Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome.
Huijsdens-van Amsterdam K, Page-Christiaens L, Flowers N, Bonifacio MD, Ellis KMB, Vogel I, Vestergaard EM, Miguelez J, de Carvalho MHB, Sistermans EA, Pertile MD. Huijsdens-van Amsterdam K, et al. Among authors: pertile md. Eur J Hum Genet. 2018 Oct;26(10):1490-1496. doi: 10.1038/s41431-018-0188-1. Epub 2018 Jun 13. Eur J Hum Genet. 2018. PMID: 29899373 Free PMC article.
Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study.
Halliday JL, Muller C, Charles T, Norris F, Kennedy J, Lewis S, Meiser B, Donath S, Stark Z, McGillivray G, Menezes M, Smith SK, Forster D, Walker S, Pertile M, Amor DJ. Halliday JL, et al. Eur J Hum Genet. 2018 Apr;26(4):485-494. doi: 10.1038/s41431-017-0084-0. Epub 2018 Feb 6. Eur J Hum Genet. 2018. PMID: 29410473 Free PMC article.
State-wide utilization and performance of traditional and cell-free DNA-based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study.
Lindquist A, Hui L, Poulton A, Kluckow E, Hutchinson B, Pertile MD, Bonacquisto L, Gugasyan L, Kulkarni A, Harraway J, Howden A, McCoy R, Da Silva Costa F, Menezes M, Palma-Dias R, Nisbet D, Martin N, Bethune M, Poulakis Z, Halliday J. Lindquist A, et al. Among authors: pertile md. Ultrasound Obstet Gynecol. 2020 Aug;56(2):215-224. doi: 10.1002/uog.21899. Ultrasound Obstet Gynecol. 2020. PMID: 31625225 Free article.
58 results