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… (More)

Topic mentions per year

Topic mentions per year

1937-2018
010020030019372017

Papers overview

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Highly Cited
2009
Highly Cited
2009
Chromosome instability is a hallmark of tumorigenesis. This study establishes that chromosome instability is also common during… (More)
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Highly Cited
2004
Highly Cited
2004
 
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Highly Cited
2003
Highly Cited
2003
BACKGROUND Idiopathic hypereosinophilic syndrome involves a prolonged state of eosinophilia associated with organ dysfunction. It… (More)
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Highly Cited
2003
Highly Cited
2003
BACKGROUND The role of intrapartum asphyxia in neonatal encephalopathy and seizures in term infants is not clear, and antenatal… (More)
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Highly Cited
1996
Highly Cited
1996
Mitelman's catalogue is the only comprehensive reference book of aberrant karyotypes in malignancy. The fifth edition provides us… (More)
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Highly Cited
1996
Highly Cited
1996
Holoprosencephaly (HPE) is a common developmental defect of the forebrain and frequently the midface in humans, with both genetic… (More)
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Highly Cited
1996
Highly Cited
1996
The t(7;11)(p15;p15) translocation is a recurrent chromosomal abnormality associated primarily with acute myeloid leukaemia (FAB… (More)
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Highly Cited
1989
Highly Cited
1989
We have established a novel cell line, designated as TF-1, from a patient with erythroleukemia, which showed complete growth… (More)
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Highly Cited
1985
Highly Cited
1985
The Philadelphia (Ph') chromosome, an abnormal chromosome 22 (ref. 1), is one of the best-known examples of a specific human… (More)
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