Jeune thoracic dystrophy

Known as: JEUNE SYNDROME, ATD1, Thoracic pelvic phalangeal dystrophy 
A rare autosomal recessive inherited syndrome characterized by a narrow thorax, micromelia, and respiratory disturbances which may lead to… (More)
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive… (More)
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2010
2010
Ciliary disorders share typical features, such as polydactyly, renal and biliary cystic dysplasia, and retinitis pigmentosa… (More)
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Highly Cited
2009
Highly Cited
2009
Jeune asphyxiating thoracic dystrophy (ATD) is an autosomal-recessive chondrodysplasia characterized by short ribs and a narrow… (More)
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2009
2009
Asphyxiating thoracic dystrophy-Jeune syndrome (JS) is a rare autosomal recessive disease characterized by small thorax and short… (More)
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Highly Cited
2007
Highly Cited
2007
Jeune asphyxiating thoracic dystrophy, an autosomal recessive chondrodysplasia, often leads to death in infancy because of a… (More)
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Review
2007
Review
2007
Nicole Beydon, Stephanie D. Davis, Enrico Lombardi, Julian L. Allen, Hubertus G. M. Arets, Paul Aurora, Hans Bisgaard, G. Michael… (More)
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Highly Cited
2004
Highly Cited
2004
The post-weaning period in pigs is characterized by an immediate but transient drop in feed intake resulting in severe… (More)
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1998
1998
A 13-month-old patient with Jeune's thoracic asphyxiating dystrophy, was surgically treated using a methyl-methacrylate (acrylic… (More)
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Highly Cited
1995
Highly Cited
1995
We undertook surgical bilateral lung volume reduction in 20 patients with severe chronic obstructive pulmonary disease to relieve… (More)
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1992
1992
Two siblings with Jeune thoracic dystrophy had persistent evidence of hepatic dysfunction; one had cirrhosis. Liver disease, a… (More)
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