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An adaptive detection method for fetal chromosomal aneuploidy using cell-free DNA from 447 Korean women.
Kim S, Jung H, Han SH, Lee S, Kwon J, Kim MG, Chu H, Han K, Kwak H, Park S, Joo HJ, An M, Ha J, Lee K, Kim BC, Zheng H, Zhu X, Chen H, Bhak J. Kim S, et al. BMC Med Genomics. 2016 Oct 3;9(1):61. doi: 10.1186/s12920-016-0222-5. BMC Med Genomics. 2016. PMID: 27716407 Free PMC article.
METHODS: A total of 447 pregnant women at high risk for fetal aneuploidy were enrolled at 12 hospitals in Korea. ...Our adaptive approach also showed that fetal aneuploidies could be detected correctly by clearly splitting the z sc
METHODS: A total of 447 pregnant women at high risk for fetal aneuploidy were enrolled at 12 hospitals in Korea. ...Our
Open source non-invasive prenatal testing platform and its performance in a public health laboratory.
Johansen P, Richter SR, Balslev-Harder M, Miltoft CB, Tabor A, Duno M, Kjaergaard S. Johansen P, et al. Prenat Diagn. 2016 Jun;36(6):530-6. doi: 10.1002/pd.4819. Epub 2016 Apr 24. Prenat Diagn. 2016. PMID: 27027563
METHODS: Plasma-derived DNA from a total of 375 pregnant women (divided into three datasets) was whole-genome sequenced on the Ion Proton platform and analyzed using a pipeline based on WISECONDOR for fetal autosomal aneuploidy detection and SeqFF for
METHODS: Plasma-derived DNA from a total of 375 pregnant women (divided into three datasets) was whole-genome sequenced on the Ion Pr
Cell-free fetal DNA in the maternal serum and plasma: current and evolving applications.
Avent ND, Madgett TE, Maddocks DG, Soothill PW. Avent ND, et al. Curr Opin Obstet Gynecol. 2009 Apr;21(2):175-9. doi: 10.1097/GCO.0b013e3283294798. Curr Opin Obstet Gynecol. 2009. PMID: 19262379 Review.
For the majority of prenatal diagnostic procedures, the assessment of trisomy, particularly trisomy 21, is the highest priority. Because RHD genotyping, fetal sexing and analysis of single-gene disorders all depend on the detection of paternally inherited alleles, t …
For the majority of prenatal diagnostic procedures, the assessment of trisomy, particularly trisomy 21, is the highest priority. Because RHD …
Detecting trisomy in products of conception from first-trimester spontaneous miscarriages by next-generation sequencing (NGS).
Xu J, Chen M, Liu QY, Hu SQ, Li LR, Li J, Ma RM. Xu J, et al. Medicine (Baltimore). 2020 Jan;99(5):e18731. doi: 10.1097/MD.0000000000018731. Medicine (Baltimore). 2020. PMID: 32000376 Free PMC article.
Chromosome abnormalities were detected by high-resolution G banding karyotyping and NGS. ...These chromosome abnormalities samples included 9 chromosome 16 trisomies, 3 chromosome 22 trisomies, 2 chromosome 7 trisomies, 2 chromosome
Chromosome abnormalities were detected by high-resolution G banding karyotyping and NGS. ...These chromosome abnormalit
Rapid Identification of Plasma DNA Samples with Increased ctDNA Levels by a Modified FAST-SeqS Approach.
Belic J, Koch M, Ulz P, Auer M, Gerhalter T, Mohan S, Fischereder K, Petru E, Bauernhofer T, Geigl JB, Speicher MR, Heitzer E. Belic J, et al. Clin Chem. 2015 Jun;61(6):838-49. doi: 10.1373/clinchem.2014.234286. Epub 2015 Apr 20. Clin Chem. 2015. PMID: 25896989
METHODS: We adapted the recently described Fast Aneuploidy Screening Test-Sequencing System (FAST-SeqS) method, which was originally established as a simple, effective, noninvasive screening method for fetal aneuploidy from materna
METHODS: We adapted the recently described Fast Aneuploidy Screening Test-Sequencing System (FAST-SeqS) method,
Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.
Zeevi DA, Altarescu G, Weinberg-Shukron A, Zahdeh F, Dinur T, Chicco G, Herskovitz Y, Renbaum P, Elstein D, Levy-Lahad E, Rolfs A, Zimran A. Zeevi DA, et al. J Clin Invest. 2015 Oct 1;125(10):3757-65. doi: 10.1172/JCI79322. Epub 2015 Aug 31. J Clin Invest. 2015. PMID: 26426075 Free PMC article.
BACKGROUND: Noninvasive prenatal testing can be used to accurately detect chromosomal aneuploidies in circulating fetal DNA; however, the necessity of parental haplotype construction is a primary drawback to noninvasive prenatal diagnosis (NIPD) of mon …
BACKGROUND: Noninvasive prenatal testing can be used to accurately detect chromosomal aneuploidies in circulating fe