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Opitz GBBB Syndrome, X-Linked

Known as: OPITZ-G SYNDROME, TYPE I, opitz-frias syndrome, HYPERTELORISM-HYPOSPADIAS SYNDROME 
National Institutes of Health

Related topics

Related topics

17 relations
Agenesis of corpus callosumAnus, ImperforateByzanthine arch palateCleft Lip

Broader (3)

Cleft PalateEsophagusGenetic Diseases, X-Linked

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2014
Highly Cited
2014
Osx-Cre Targets Multiple Cell Types besides Osteoblast Lineage in Postnatal Mice
Osterix (Osx or Sp7) is a zinc-finger-family transcriptional factor essential for osteoblast differentiation in mammals. The Osx… 
Highly Cited
2011
Highly Cited
2011
The IRE1α–XBP1 pathway is essential for osteoblast differentiation through promoting transcription of Osterix
During skeletal development, osteoblasts produce large amounts of extracellular matrix proteins and must therefore increase their… 
Highly Cited
2010
Highly Cited
2010
The combination of micron and nanotopography by H(2)SO(4)/H(2)O(2) treatment and its effects on osteoblast-specific gene expression of hMSCs.
H(2)SO(4)/H(2)O(2) treatment of titanium implants imparts nanofeatures to the surface and alters the osteoblast response. The aim… 
Highly Cited
2009
Highly Cited
2009
Runx2, Osx, and Dspp in Tooth Development
The transcription factors Runx2 and Osx are necessary for osteoblast and odontoblast differentiation, while Dspp is important for… 
Highly Cited
2008
Highly Cited
2008
Modulation of stem cell shape and fate B: mechanical modulation of cell shape and gene expression.
Condensation is a metamorphizing event for the mesenchymal stem cell. The balance of forces in the cell during condensation plays… 
Highly Cited
2003
Highly Cited
2003
Transcriptional mechanisms in osteoblast differentiation and bone formation.
Review
2003
Review
2003
X‐linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum
Opitz (or G/BBB) syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline… 
Highly Cited
2000
Highly Cited
2000
New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.
Opitz syndrome (OS) is a genetically heterogeneous malformation disorder. Patients with OS may present with a variable array of… 
Highly Cited
1999
Highly Cited
1999
Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle.
Opitz syndrome (OS) is a multiple congenital anomaly manifested by abnormal closure of midline structures. The gene responsible… 
Highly Cited
1997
Highly Cited
1997
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
Opitz syndrome (OS) is an inherited disorder characterized by midline defects including hypertelorism, hypospadias, lip-palate… 
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