Browsing by Subject "Abnormalities"
Now showing items 1-3 of 3
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Article
[Cantrell's syndrome]
(1987)Congenital diaphragmatic hernia is associated with a high mortality, especially when combined with other defects. The unusual repeated combination of the same congenital abnormalities by a number of patients and the fact ...
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Article
Parental origin effects in human trisomy for chromosome 14q: Implications for genomic imprinting
(1998)Parental origin specific congenital anomalies have been noted in patients with uniparental disomy of the long arm of human chromosome 14 (UPD14). This suggests the presence of imprinted genes, consistent with observations ...
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Article
Parental origin-specific developmental defects in mice with uniparental disomy for chromosome 12
(2000)Genetic analysis has shown that the distal portion of mouse chromosome 12 is imprinted