Harlequin Fetus

Known as: Syndrome, Harlequin Baby, HI, Ichthyosis, Harlequin 
A very rare and usually lethal autosomal recessive inherited disorder of the skin caused by mutations in the ABCA12 gene. It is characterized by the… (More)
National Institutes of Health

Papers overview

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Highly Cited
2010
Highly Cited
2010
Recent studies of the routes of worldwide introductions of alien organisms suggest that many widespread invasions could have… (More)
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Review
2008
Review
2008
Many of the ichthyoses are associated with inherited disorders of lipid metabolism. These disorders have provided unique models… (More)
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Highly Cited
2005
Highly Cited
2005
Harlequin ichthyosis (HI) is the most severe and frequently lethal form of recessive congenital ichthyosis. Although defects in… (More)
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Review
2004
Review
2004
The second most common form of congenital hyperinsulinism, the hyperinsulinism/hyperammonemia syndrome (HI/HA), is associated… (More)
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Highly Cited
2003
Highly Cited
2003
BACKGROUND Matrix metalloproteinase (MMP) expression is related to blood brain barrier disruption after cerebral ischemia… (More)
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2002
2002
Congenital ichthyosis, otherwise known as harlequin fetus, is a severe, generally lethal, anomaly. Prenatal diagnosis is usually… (More)
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Highly Cited
2001
Highly Cited
2001
BACKGROUND AND PURPOSE In animal models of cerebral ischemia, matrix metalloproteinase (MMP) expression was significantly… (More)
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Highly Cited
1994
Highly Cited
1994
The endemic golden toad (Bufo periglenes) was abundant in Costa Rica's Monteverde Cloud Forest Preserve in April-May 1987 but… (More)
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1985
1985
A harlequin fetus seen at birth was treated with etretinate and more general measures, including careful attention to fluid… (More)
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