Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

Craniofacial Abnormalities

Known as: Abnormalities, Craniofacial, Craniofacial anomalies, abnormalities craniofacial 
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2011
Highly Cited
2011
To understand the genetic heterogeneity underlying developmental delay, we compared copy number variants (CNVs) in 15,767… Expand
  • figure 4
Review
2008
Review
2008
  • N. Punjabi
  • Proceedings of the American Thoracic Society
  • 2008
  • Corpus ID: 21693389
Obstructive sleep apnea is a chronic condition characterized by frequent episodes of upper airway collapse during sleep. Its… Expand
  • table 1
Highly Cited
2006
Highly Cited
2006
Neural crest cells are a migratory cell population that give rise to the majority of the cartilage, bone, connective tissue, and… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Review
2002
Review
2002
  • J. Murray
  • Clinical genetics
  • 2002
  • Corpus ID: 8734484
Craniofacial anomalies, and in particular cleft lip and palate, are major human birth defects with a worldwide frequency of 1 in… Expand
Highly Cited
2000
Highly Cited
2000
Connexin(Cx)43 is the major gap junction protein present in osteoblasts. We have shown that overexpression of Cx45 in osteoblasts… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Highly Cited
1999
Highly Cited
1999
There is growing evidence that implicates a role for Sonic hedgehog (SHH) in morphogenesis of the craniofacial complex. Mutations… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Highly Cited
1998
Highly Cited
1998
Signalling by the transforming growth factor-β (TGF-β) superfamily of proteins depends on the phosphorylation and activation of… Expand
  • table 1
  • figure 1
  • figure 3
  • figure 2
  • figure 4
Highly Cited
1998
Highly Cited
1998
The cytosolic protein APAF1, human homolog of C. elegans CED-4, participates in the CASPASE 9 (CASP9)-dependent activation of… Expand
  • figure 1
  • table 1
  • figure 2
  • figure 4
  • figure 6
Highly Cited
1995
Highly Cited
1995
A broad spectrum of biological activities has been proposed for transforming growth factor–β3(TGF–β 3). To study TGF–β3function… Expand
Highly Cited
1981
Highly Cited
1981
When two small doses of ethanol were administered to pregnant mice during the gastrulation stage of embryogenesis, the embryos… Expand