Patau syndrome

Known as: D1 Trisomy, Trisomy 13 syndrome, trisomy syndrome 13 
A syndrome characterized by the presence of three complete copies of genetic material for chromosome 13, instead of the normal two. It leads to a… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1961-2017
05019612017

Papers overview

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Review
2014
Review
2014
OBJECTIVE To assess the relationship between the finding of fetal femur diaphysis length (FL) below the 5(th) percentile at the… (More)
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Highly Cited
2013
Highly Cited
2013
OBJECTIVE To assess the performance of cell-free DNA (cfDNA) testing in maternal blood for detection of fetal aneuploidy of… (More)
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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
2010
Highly Cited
2010
BACKGROUND The National Birth Defects Prevention Network collects state-specific birth defects surveillance data for annual… (More)
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Highly Cited
2008
Highly Cited
2008
We directly sequenced cell-free DNA with high-throughput shotgun sequencing technology from plasma of pregnant women, obtaining… (More)
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Highly Cited
2008
Highly Cited
2008
OBJECTIVE Fetal nuchal translucency (NT) thickness increases with crown-rump length (CRL). In screening for chromosomal defects… (More)
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Highly Cited
2004
Highly Cited
2004
The derivation of human embryonic stem (hES) cells establishes a new avenue to approach many issues in human biology and medicine… (More)
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Highly Cited
2003
Highly Cited
2003
OBJECTIVE Although trisomy 13 and trisomy 18 are generally considered to be lethal, long-term survival of patients has been… (More)
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Highly Cited
1983
Highly Cited
1983
The activity of the pyruvate dehydrogenase complex (PDHC) was reduced in affected areas of brain from patients with Huntington… (More)
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Highly Cited
1968
Highly Cited
1968
The three autosomal trisomy syndromes, which appear to be specific and well documented, are Down's syndrome (trisomy 21), Edwards… (More)
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