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Apert syndrome

Known as: ACS1, Syndactylic Oxycephaly, Acrocephalosyndactyly Type I 
An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR2 gene. It is characterized by early closure of the… Expand
National Institutes of Health

Papers overview

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Highly Cited
2008
Highly Cited
2008
Apert syndrome is one of the most severe craniosynostosis that is mainly caused by either a Ser252Trp(S252W) or Pro253Arg(P253R… Expand
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Highly Cited
2007
Highly Cited
2007
Endometrial carcinoma is the most common gynecological malignancy in the United States. Although most women present with early… Expand
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Highly Cited
2005
Highly Cited
2005
Apert syndrome is an autosomal dominant disorder characterized by malformations of the skull, limbs and viscera. Two-thirds of… Expand
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Highly Cited
2003
Highly Cited
2003
1-Amino-cyclopropane-1-carboxylate synthase (ACS, EC 4.4.1.14) is the key enzyme in the ethylene biosynthetic pathway in plants… Expand
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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… Expand
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Highly Cited
2001
Highly Cited
2001
Inhibition studies have suggested that acyl-CoA synthetase (ACS, EC 6.2.1.3) isoforms might regulate the use of acyl-CoAs by… Expand
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Highly Cited
2000
Highly Cited
2000
Craniosynostosis syndromes are autosomal dominant human skeletal diseases that result from various mutations in fibroblast growth… Expand
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Highly Cited
1996
Highly Cited
1996
Apert syndrome results from one or other of two specific nucleotide substitutions, both C→G transversions, in the fibroblast… Expand
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Highly Cited
1996
Highly Cited
1996
Apert syndrome is a distinctive human malformation characterized by craniosynostosis and severe syndactyly of the hands and feet… Expand
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Highly Cited
1995
Highly Cited
1995
Apert syndrome is a distinctive human malformation comprising craniosynostosis and severe syndactyly of the hands and feet. We… Expand
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