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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… Expand
National Institutes of Health

Papers overview

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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… Expand
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Highly Cited
2010
Highly Cited
2010
A BSTRACT Background Fluorescence in situ hybridization has improved the detection of genomic aberrations in chronic lymphocytic… Expand
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Highly Cited
2008
Highly Cited
2008
Gene-expression profiling has been used to define 3 molecular subtypes of diffuse large B-cell lymphoma (DLBCL), termed germinal… Expand
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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… Expand
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Review
2001
Review
2001
Aneuploidy (trisomy or monosomy) is the most commonly identified chromosome abnormality in humans, occurring in at least 5% of… Expand
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Highly Cited
2000
Highly Cited
2000
BACKGROUND Fluorescence in situ hybridization has improved the detection of genomic aberrations in chronic lymphocytic leukemia… Expand
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Highly Cited
1999
Highly Cited
1999
OBJECTIVE To provide estimates of maternal age- and gestational age-related risks for trisomy 21. METHODS The prevalence of… Expand
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Highly Cited
1998
Highly Cited
1998
BACKGROUND Prenatal diagnosis of trisomy 21 currently relies on assessment of risk followed by invasive testing in the 5% of… Expand
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Highly Cited
1993
Highly Cited
1993
The telomere hypothesis of cellular aging proposes that loss of telomeric DNA (TTAGGG) from human chromosomes may ultimately… Expand
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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… Expand
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