Abnormality of the skeletal system

Known as: Skeletal abnormalities, Skeletal anomalies 
An abnormality of the skeletal system. [HPO:probinson]
National Institutes of Health

Papers overview

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Highly Cited
2006
Highly Cited
2006
OBJECTIVE To identify the mediator responsible for the impact of chronic inflammation on skeletal development in children (bone… (More)
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Highly Cited
2001
Highly Cited
2001
In humans, SOX9 heterozygous mutations cause the severe skeletal dysmorphology syndrome campomelic dysplasia. Except for clinical… (More)
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Highly Cited
2000
Highly Cited
2000
Turner syndrome is characterized by short stature and is frequently associated with a variable spectrum of somatic features… (More)
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Highly Cited
1998
Highly Cited
1998
Npt2 encodes a renal-specific, brush-border membrane Na+-phosphate (Pi) cotransporter that is expressed in the proximal tubule… (More)
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Highly Cited
1997
Highly Cited
1997
We have generated Cbfa1-deficient mice. Homozygous mutants die of respiratory failure shortly after birth. Analysis of their… (More)
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Highly Cited
1997
Highly Cited
1997
The correct patterning of vertebrate skeletal elements is controlled by inductive interactions. Two vertebrate hedgehog proteins… (More)
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Highly Cited
1997
Highly Cited
1997
The identification of mutations in the SRY-related SOX9 gene in patients with campomelic dysplasia, a severe skeletal… (More)
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Review
1995
Review
1995
Much of our knowledge about cartilage and bone has come from descriptive anatomy, endocrinology, and cellular studies of bone… (More)
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Highly Cited
1994
Highly Cited
1994
Numerous congenital malformations have been observed in fetuses of vitamin A-deficient (VAD) dams [Wilson, J. G., Roth, C. B… (More)
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Highly Cited
1992
Highly Cited
1992
The Myf-5 gene, a member of the myogenic basic HLH factor family, has been inactivated in mice after homologous recombination in… (More)
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