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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1941-2018
010203019412017

Papers overview

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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… (More)
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2004
2004
Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, mid-facial… (More)
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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… (More)
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Highly Cited
2001
Highly Cited
2001
Apert syndrome (AS) is characterized by craniosynostosis (premature fusion of cranial sutures) and severe syndactyly of the hands… (More)
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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… (More)
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Highly Cited
1999
Highly Cited
1999
Apert syndrome, one of five craniosynostosis syndromes caused by allelic mutations of fibroblast growth-factor receptor 2 (FGFR2… (More)
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Highly Cited
1998
Highly Cited
1998
Dominantly acting mutations of the fibroblast growth factor (FGF) receptor 2 (FGFR2) gene have been implicated in various… (More)
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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… (More)
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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… (More)
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1992
1992
As part of an ongoing study of 119 patients with the Apert syndrome, extensive data were available for the analysis of oral… (More)
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