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Branchio-Oto-Renal Syndrome

Known as: Syndrome, BOR, Syndrome, Branchio-Oto-Renal, Branchio-Otorenal Dysplasia 
An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing… Expand
National Institutes of Health

Related topics

Related topics

24 relations
Autosomal dominant inheritanceBifid uvulaBranchio-Oculo-Facial SyndromeBranchiogenic syndrome
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Narrower (5)

BRANCHIOOTIC SYNDROME 1BRANCHIOOTIC SYNDROME 3 (disorder)Bor-Duane hydrocephalus contiguous gene syndromeBranchiootic Syndrome 2
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2010
Highly Cited
2010
Polar localization and degradation of Arabidopsis boron transporters through distinct trafficking pathways
Boron (B) is essential for plant growth but is toxic when present in excess. In the roots of Arabidopsis thaliana under B… Expand
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Highly Cited
2008
Highly Cited
2008
NIP6;1 Is a Boric Acid Channel for Preferential Transport of Boron to Growing Shoot Tissues in Arabidopsis[W]
Boron (B) in soil is taken up by roots through NIP5;1, a boric acid channel, and is loaded into the xylem by BOR1, a borate… Expand
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Highly Cited
2007
Highly Cited
2007
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
Branchio-oto-renal syndrome (BOR) is an autosomal dominant developmental disorder characterized by the association of branchial… Expand
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Highly Cited
2007
Highly Cited
2007
Boron-Toxicity Tolerance in Barley Arising from Efflux Transporter Amplification
Both limiting and toxic soil concentrations of the essential micronutrient boron represent major limitations to crop production… Expand
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Highly Cited
2006
Highly Cited
2006
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.
Renal hypodysplasia (RHD) is characterized by a reduced nephron number, small kidney size, and disorganized renal tissue. A… Expand
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Highly Cited
2005
Highly Cited
2005
Endocytosis and degradation of BOR1, a boron transporter of Arabidopsis thaliana, regulated by boron availability.
Boron (B) is essential for plants but toxic when present in excess. Arabidopsis thaliana BOR1 is a B exporter for xylem loading… Expand
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Highly Cited
2004
Highly Cited
2004
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
Urinary tract malformations constitute the most frequent cause of chronic renal failure in the first two decades of life… Expand
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Highly Cited
2002
Highly Cited
2002
Role of Genotype in the Cycle of Violence in Maltreated Children
We studied a large sample of male children from birth to adulthood to determine why some children who are maltreated grow up to… Expand
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Highly Cited
2002
Highly Cited
2002
Arabidopsis boron transporter for xylem loading
Boron deficiency hampers the productivity of 132 crops in more than 80 countries. Boron is essential in higher plants primarily… Expand
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1995
1995
Branchio-oto-renal syndrome.
Branchio-oto-renal syndrome is an autosomal-dominant disorder with branchial, otologic, and renal manifestations. The branchial… Expand
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