Brachytelephalangic Chondrodysplasia Punctata

Known as: CDPX1, CPXR, Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 
 
National Institutes of Health

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Highly Cited
2011
Highly Cited
2011
CuO nanoparticles (CuO-NP) were synthesized in a hydrogen diffusion flame. Particle size and morphology were characterized using… (More)
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2010
2010
We report the prenatal management of a brachytelephalangic chondrodysplasia punctata (CDPX1) case and how postnatal findings… (More)
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2010
2010
We report on a child with the brachytelephalangic type of chondrodysplasia punctata, a very rare form of the disease. At birth… (More)
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2009
2009
Brachytelephalangic chondrodysplasia punctata (CDPX1) is an X-linked recessive disorder caused by mutations in the arylsulfatase… (More)
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2009
2009
Brachytelephalangic chondrodysplasia punctata is a rare congenital skeletal dysplasia. Within the heterogeneous group of… (More)
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Highly Cited
2009
Highly Cited
2009
The Cpx two-component signal transduction pathway of Escherichia coli mediates adaptation to envelope protein misfolding. However… (More)
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2008
2008
X-linked Recessive Chondrodysplasia Punctata (CDPX1) is due to a defect in arylsulfatase E (ARSE), located on Xp22.3. Neither the… (More)
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Highly Cited
2005
Highly Cited
2005
Curli fibers could be described as a virulence factor able to confer adherence properties to both abiotic and eukaryotic surfaces… (More)
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Highly Cited
2005
Highly Cited
2005
We performed transposon mutagenesis of a two-color fluorescent reporter strain to identify new regulators of the porin genes ompF… (More)
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1989
1989
The author describes four cases of chondrodysplasia punctata with an hypoplasia of the distal phalange of the fingers. In these… (More)
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