Craniofacial dysostosis type 1

Known as: CROUZON SYNDROME, Crouzons Disease, CRANIOFACIAL DYSOSTOSIS, TYPE I 
 
National Institutes of Health

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2012
2012
BACKGROUND We present a large Dutch family with seven males affected by a novel syndrome of X-linked intellectual disability… (More)
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2007
2007
The aim of this work was to estimate the accuracy of craniofacial reconstruction (CFR), from a series of 25 controlled cases… (More)
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Highly Cited
2005
Highly Cited
2005
Two transcriptional activators, Aft1 and Aft2, regulate iron homeostasis in Saccharomyces cerevisiae. These factors induce the… (More)
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Highly Cited
2003
Highly Cited
2003
Iron regulatory protein 1 (IRP1) is regulated through the assembly/disassembly of a [4Fe-4S] cluster, which interconverts IRP1… (More)
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Highly Cited
2000
Highly Cited
2000
Mouse genetic models can be used to dissect molecular mechanisms that result in human disease. This approach requires detection… (More)
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1995
1995
The fibroblast growth factor receptors (FGFRs) are a family of ligand-activated, membrane-spanning tyrosine kinases. Mutations in… (More)
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1993
1993
The effect of cranial release and reconstruction on the mental development of infants with nonsyndromic craniosynostosis was… (More)
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1986
1986
Bilateral coronal suture immobilization was performed in 9-day-old rabbits to simulate the brachycephaly deformity characteristic… (More)
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1971