Trisomy

Known as: Chromosomal Triplication, Trisomy [Disease/Finding], Chromosomal Triplications 
The presence of an extra chromosome, resulting in a total of three copies of that chromosome instead of the normal 2 copies (e.g., trisomy 21, or… (More)

Topic mentions per year

Topic mentions per year

1943-2018
020040019432017

Papers overview

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Highly Cited
2012
Highly Cited
2012
Purpose:To determine whether maternal plasma cell–free DNA sequencing can effectively identify trisomy 18 and 13.Methods:Sixty… (More)
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Highly Cited
2012
Highly Cited
2012
OBJECTIVE We sought to evaluate performance of a noninvasive prenatal test for fetal trisomy 21 (T21) and trisomy 18 (T18… (More)
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Highly Cited
2011
Highly Cited
2011
OBJECTIVES To validate the clinical efficacy and practical feasibility of massively parallel maternal plasma DNA sequencing to… (More)
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Highly Cited
2011
Highly Cited
2011
OBJECTIVE We sought to evaluate a multiplexed massively parallel shotgun sequencing assay for noninvasive trisomy 21 detection… (More)
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Highly Cited
2011
Highly Cited
2011
Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive… (More)
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Highly Cited
2002
Highly Cited
2002
We describe a new method for relative quantification of 40 different DNA sequences in an easy to perform reaction requiring only… (More)
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Highly Cited
2001
Highly Cited
2001
Acute myeloid leukemia (AML) is a heterogeneous group of diseases. Normal cytogenetics (CN) constitutes the single largest group… (More)
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Highly Cited
1999
Highly Cited
1999
OBJECTIVE To examine the potential impact of combining maternal age with fetal nuchal translucency thickness and maternal serum… (More)
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Highly Cited
1998
Highly Cited
1998
A mouse model for Down syndrome, Ts1Cje, has been developed. This model has made possible a step in the genetic dissection of the… (More)
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Highly Cited
1988
Highly Cited
1988
Chromosomes can be specifically stained in metaphase spreads and interphase nuclei by in situ hybridization with entire… (More)
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