Holt-Oram syndrome

Known as: Atrio-Digital Syndrome, HOS1, Ventriculo-Radial Syndrome 
A rare, autosomal dominant inherited syndrome caused by mutations in the TBX5 gene. It is characterized by skeletal abnormalities in the upper limbs… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1938-2017
0204019382016

Papers overview

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Highly Cited
2005
Highly Cited
2005
The T-box transcription factor TBX5 plays essential roles in cardiac and limb development. Various mutations in the TBX5 gene… (More)
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Highly Cited
2001
Highly Cited
2001
Heterozygous Tbx5(del/+) mice were generated to study the mechanisms by which TBX5 haploinsufficiency causes cardiac and forelimb… (More)
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Highly Cited
1999
Highly Cited
1999
To further define the role of a T-box transcription factor, Tbx5, in cardiac development, we have examined its expression in the… (More)
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Highly Cited
1999
Highly Cited
1999
To better understand the role of TBX5, a T-box containing transcription factor in forelimb and heart development, we have studied… (More)
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1999
1999
The Holt-Oram syndrome is an autosomal dominant heritable disorder characterized by skeletal upper-limb dysplasias and congenital… (More)
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Highly Cited
1997
Highly Cited
1997
Holt-Oram syndrome is a developmental disorder affecting the heart and upper limb, the gene for which was mapped to chromosome 12… (More)
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Highly Cited
1997
Highly Cited
1997
Holt-Oram syndrome is characterized by upper limb malformations and cardiac septation defects. Here, we demonstrate that… (More)
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Highly Cited
1997
Highly Cited
1997
Holt-Oram syndrome is characterized by upper limb malformations and cardiac septation defects. Here, we demonstrate that… (More)
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Highly Cited
1996
Highly Cited
1996
A clinical and genetic study of the Holt-Oram syndrome (HOS) has been carried out in the United Kingdom involving 55 cases… (More)
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Highly Cited
1994
Highly Cited
1994
BACKGROUND The Holt-Oram syndrome is an autosomal dominant condition characterized by skeletal abnormalities that are frequently… (More)
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