Pfeiffer Syndrome

Known as: Syndrome, Noack, ACS5, pfeiffers syndrome 
An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR1 or FGFR2 genes. It is characterized by early closure… (More)
National Institutes of Health

Papers overview

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Review
2006
Review
2006
Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs… (More)
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Highly Cited
2004
Highly Cited
2004
Ethylene gas is used as a hormone by plants, in which it acts as a critical growth regulator. Its synthesis is also rapidly… (More)
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Highly Cited
2003
Highly Cited
2003
The Arabidopsis ethylene-overproducing mutants eto1, eto2, and eto3 have been suggested to affect the post-transcriptional… (More)
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Highly Cited
2002
Highly Cited
2002
It has been known for several years that heterozygous mutations of three members of the fibroblast growth-factor-receptor family… (More)
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Review
2002
Review
2002
Recent studies suggest that the long-chain acyl-CoA synthetases (ACS) may play a role in channeling fatty acids either toward… (More)
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Highly Cited
2001
Highly Cited
2001
Inhibition studies have suggested that acyl-CoA synthetase (ACS, EC ) isoforms might regulate the use of acyl-CoAs by different… (More)
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Highly Cited
2000
Highly Cited
2000
Crouzon syndrome and Pfeiffer syndrome are both autosomal dominant craniosynostotic disorders that can be caused by mutations in… (More)
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Highly Cited
1996
Highly Cited
1996
Pfeiffer syndrome (PS; McKusick MIM 101600) is an autosomal dominant craniosynostosis syndrome with characteristic craniofacial… (More)
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Highly Cited
1995
Highly Cited
1995
Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in Crouzon syndrome, an autosomal dominant… (More)
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Highly Cited
1994
Highly Cited
1994
Pfeiffer syndrome (PS) is one of the classic autosomal dominant craniosynostosis syndromes with craniofacial anomalies and… (More)
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