WAARDENBURG SYNDROME, TYPE 4A

Known as: Waardenburg-Shah Syndrome, SHAH-WAARDENBURG SYNDROME, WS4A 
A rare, autosomal dominant or autosomal recessive syndrome caused by mutations in the SOX10, EDN3, or EDNRB genes. It is characterized by pigmentary… (More)
National Institutes of Health

Papers overview

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Highly Cited
2007
Highly Cited
2007
Comprehensive knowledge of the genomic alterations that underlie cancer is a critical foundation for diagnostics, prognostics… (More)
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Review
2003
Review
2003
Phytoremediation is a relatively new approach to removing contaminants from the environment. It may be defined as the use of… (More)
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Highly Cited
2003
Highly Cited
2003
Contributors Jean-Marc Aiache, Nobuo Aoyagi, Dennis Bashaw, Cynthia Brown, William Brown, Diane Burgess, John Crison, Patrick… (More)
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Highly Cited
2003
Highly Cited
2003
We report the first observation of Stimulated Raman Scattering (SRS) in silicon waveguides. Amplification of the Stokes signal… (More)
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Highly Cited
2002
Highly Cited
2002
Waardenburg syndrome (WS; deafness with pigmentary abnormalities) is a congenital disorder caused by defective function of the… (More)
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Highly Cited
2001
Highly Cited
2001
We propose a new model for active contours to detect objects in a given image, based on techniques of curve evolution, Mumford… (More)
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Highly Cited
2001
Highly Cited
2001
Waardenburg-Shah syndrome combines the reduced enteric nervous system characteristic of Hirschsprung's disease with reduced… (More)
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Highly Cited
1998
Highly Cited
1998
Waardenburg syndrome (WS; deafness with pigmentary abnormalities) and Hirschsprung's disease (HSCR; aganglionic megacolon) are… (More)
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Review
1997
Review
1997
Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of… (More)
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Highly Cited
1996
Highly Cited
1996
Hirschsprung disease (HSCR) or colonic agan-glionosis is a congenital disorder characterized by an absence of intramural ganglia… (More)
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