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Opitz-G syndrome, type 2

Known as: Opitz-Frias syndrome, Opitz BBB Syndrome, Hypertelorism with Esophageal Abnormalities and Hypospadias 
An X-linked syndrome caused by mutations in the MID1 gene or autosomal dominant syndrome caused by changes in chromosome 22. It is characterized by… 
National Institutes of Health

Related topics

Related topics

35 relations
Abnormal renal morphologyAgenesis of corpus callosumAnus, ImperforateAutosomal dominant inheritance

Broader (2)

EsophagusHypospadias

Papers overview

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Highly Cited
2013
Highly Cited
2013
Induction of oxidative and nitrosative damage leads to cerebrovascular inflammation in an animal model of mild traumatic brain injury induced by primary blast.
Highly Cited
2008
Highly Cited
2008
Immortalized Human Brain Endothelial Cells and Flow-Based Vascular Modeling: A Marriage of Convenience for Rational Neurovascular Studies
In evaluating drugs that enter or are excluded from the brain, novel pharmaceutical strategies are needed. For this reason, we… 
Review
2007
Review
2007
On The Rate and Extent of Drug Delivery to the Brain
To define and differentiate relevant aspects of blood–brain barrier transport and distribution in order to aid research… 
Highly Cited
2005
Highly Cited
2005
Diapedesis of mononuclear cells across cerebral venules during experimental autoimmune encephalomyelitis leaves tight junctions intact
Diapedesis of leukocytes across endothelial barriers is generally believed to require the opening of endothelial tight junctions… 
Highly Cited
2004
Highly Cited
2004
Early blood–brain barrier disruption in human focal brain ischemia
Loss of integrity of the blood–brain barrier (BBB) resulting from ischemia/reperfusion is believed to be a precursor to… 
Highly Cited
2001
Highly Cited
2001
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!
Purpose: The chromosome 22q11.2 deletion has been identified in the majority of patients with DiGeorge syndrome, velocardiofacial… 
Highly Cited
2000
Highly Cited
2000
A second look at the barriers of the medial basal hypothalamus
Abstract. The cell bodies of hypothalamic secretory neurons are localized in areas protected by the blood-brain barrier (BBB… 
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… 
Highly Cited
1996
Highly Cited
1996
Quantitative evaluation of blood-brain barrier permeability following middle cerebral artery occlusion in rats
Highly Cited
1996
Highly Cited
1996
Tubularized incised plate hypospadias repair: results of a multicenter experience.
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