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Congenital chromosomal disease

Known as: Abnormalities, Chromosomal, Chromosome Abnormality Disorder, Disorder, Chromosomal 
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
BACKGROUND Venetoclax inhibits BCL2, an antiapoptotic protein that is pathologically overexpressed and that is central to the… Expand
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Review
2017
Review
2017
Recurrent pregnancy loss is an important reproductive health issue, affecting 2%-5% of couples. Common established causes include… Expand
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Review
2017
Review
2017
The male-specific part of the human Y chromosome is widely used in forensic DNA analysis, particularly in cases where standard… Expand
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Review
2017
Review
2017
X chromosome inactivation (XCI) silences transcription from one of the two X chromosomes in female mammalian cells to balance… Expand
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Review
2017
Review
2017
This review summarizes recent evidence concerning hormonal and sex chromosome effects in obesity, atherosclerosis, aneurysms… Expand
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Review
2017
Review
2017
Chromosomal aberrations during cell division represent one of the first recognized features of human cancer cells, and modern… 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
2010
Highly Cited
2010
Diagnostic karyotype provides the framework for risk-stratification schemes in acute myeloid leukemia (AML); however, the… Expand
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Highly Cited
2002
Highly Cited
2002
Constitutive activation of the FLT3 receptor tyrosine kinase, either by internal tandem duplication (ITD) of the juxtamembrane… Expand
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Highly Cited
1998
Highly Cited
1998
Cytogenetics is considered one of the most valuable prognostic determinants in acute myeloid leukemia (AML). However, many… Expand
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