Nager syndrome

Known as: MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, WITH LIMB ANOMALIES, Acrofacial dysostosis, Nager type, Preaxial Mandibulofacial Dysostosis 
 
National Institutes of Health

Papers overview

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2012
2012
Nager syndrome, first described more than 60 years ago, is the archetype of a class of disorders called the acrofacial dysostoses… (More)
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Review
2011
Review
2011
One of the most striking features of the human vertebral column is its periodic organization along the anterior-posterior axis… (More)
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Review
2010
Review
2010
Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a… (More)
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Highly Cited
2008
Highly Cited
2008
Treacher Collins syndrome (TCS) is a congenital disorder of craniofacial development arising from mutations in TCOF1, which… (More)
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Highly Cited
2008
Highly Cited
2008
Humans and other animals can sense temperature changes as small as 0.1 °C. How animals achieve such exquisite sensitivity is… (More)
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Highly Cited
2006
Highly Cited
2006
REC8 is a master regulator of chromatin structure and function during meiosis. Here, we dissected the functions of absence of… (More)
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Highly Cited
2000
Highly Cited
2000
Ellis-van Creveld syndrome (EvC, MIM 225500) is an autosomal recessive skeletal dysplasia characterized by short limbs, short… (More)
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Highly Cited
2000
Highly Cited
2000
Spondylocostal dysostosis (SD, MIM 277300) is a group of vertebral malsegmentation syndromes with reduced stature resulting from… (More)
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Highly Cited
1998
Highly Cited
1998
We used electromyogram (EMG) radiotelemetry to assess swimming activity (e.g., swim speeds), behaviour, and migration speeds (e.g… (More)
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