Congenital anomaly of skeletal bone

Known as: SKELETAL MALFORMATION, malformations skeletal 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1978-2016
01219782016

Papers overview

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Highly Cited
2015
Highly Cited
2015
The purpose of the nosology is to serve as a "master" list of the genetic disorders of the skeleton to facilitate diagnosis and… (More)
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2014
2014
Despite years of research into bone formation, the mechanisms by which transcription factors specify growth plate development and… (More)
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2011
2011
SHP-2 (encoded by PTPN11) is a ubiquitously expressed protein tyrosine phosphatase required for signal transduction by multiple… (More)
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2007
2007
Bone morphogenetic proteins (BMPs) are a highly conserved class of signaling molecules that induce ectopic cartilage and bone… (More)
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Review
2007
Review
2007
The objective of the paper is to provide the revision of the Nosology of Constitutional Disorders of Bone that incorporates newly… (More)
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2005
2005
Cleidocranial dysplasia (CCD) is a dominantly inherited skeletal malformation syndrome with high penetrance and variable… (More)
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2005
2005
Campomelic dysplasia (CD; MIM 114290), an autosomal dominant skeletal malformation syndrome with XY sex reversal, is caused by… (More)
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2001
2001
SOX9 is a transcription factor that is essential for chondrogenesis and testis differentiation, and haploinsufficiency of SOX9… (More)
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1996
1996
The skeletal malformation syndrome campomelic dysplasia (CMD1) is caused by mutations within the SOX9 gene or chromosomal… (More)
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1993
1993
Timed-pregnant Wistar rats were injected intraperitoneally with V2O5 at 0.33, 1.0 and 3.0 mg/kg/day on days 6-15 of gestation… (More)
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