review article | Q7318358 |
scholarly article | Q13442814 |
P356 | DOI | 10.1002/AJMG.C.31356 |
P8608 | Fatcat ID | release_faik6i4wpvhknhidan7m7cmfdq |
P698 | PubMed publication ID | 23359597 |
P5875 | ResearchGate publication ID | 235381023 |
P2093 | author name string | Joe Leigh Simpson | |
Carole Samango-Sprouse | |||
P2860 | cites work | First-trimester or second-trimester screening, or both, for Down's syndrome | Q46799629 |
Klinefelter syndrome: expanding the phenotype and identifying new research directions | Q47388441 | ||
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants | Q50310344 | ||
Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. | Q51349861 | ||
First trimester prenatal diagnosis of trisomy 21 in fetal cells from maternal blood | Q53751217 | ||
Presence of fetal DNA in maternal plasma and serum | Q57075132 | ||
Executive summary | Q57839617 | ||
ACOG Practice Bulletin No. 77: Screening for Fetal Chromosomal Abnormalities | Q22242787 | ||
Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci | Q24632266 | ||
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood | Q24657306 | ||
Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing | Q28742844 | ||
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study | Q34029044 | ||
Randomised controlled trial of genetic amniocentesis in 4606 low-risk women | Q34385464 | ||
Circulating trophoblastic cells provide genetic diagnosis in 63 fetuses at risk for cystic fibrosis or spinal muscular atrophy | Q34418944 | ||
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study | Q34482155 | ||
The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities | Q34497611 | ||
Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities | Q35856339 | ||
Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies | Q36379133 | ||
Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy | Q36406163 | ||
Chromosomal microarray versus karyotyping for prenatal diagnosis | Q36546668 | ||
Invasive procedures for prenatal diagnosis: any future left? | Q38022987 | ||
Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. | Q40028555 | ||
Isolating fetal cells from maternal blood. Advances in prenatal diagnosis through molecular technology | Q40775838 | ||
Abortion mortality, United States, 1972 through 1987. | Q41012829 | ||
Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood | Q44645735 | ||
Comparison of chorion villus sampling and early amniocentesis for karyotyping in 1,492 singleton pregnancies | Q46361605 | ||
Chromosomal abnormality rates at amniocentesis and in live-born infants | Q46381824 | ||
Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors | Q46446186 | ||
P433 | issue | 1 | |
P304 | page(s) | 64-70 | |
P577 | publication date | 2013-02-01 | |
P1433 | published in | American Journal of Medical Genetics Part C: Seminars in Medical Genetics | Q15749239 |
P1476 | title | Prenatal diagnosis and 47,XXY. | |
P478 | volume | 163C |
Q27003962 | Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma |
Q26764809 | Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues |
Q24627800 | SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy |
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