Rothmund-Thomson syndrome

Known as: Congenitales, Poikiloderma, Rothmund Thomson Syndrome, Poikiloderma of Rothmund-Thomson 
An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented… (More)

Topic mentions per year

Topic mentions per year

1935-2018
05101519352017

Papers overview

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2009
2009
Human RECQ helicases have been linked to distinct clinical diseases with increased cancer rates and premature ageing. All RECQ… (More)
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2006
2006
Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder characterized by growth deficiency, skin and skeletal… (More)
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Highly Cited
2005
Highly Cited
2005
How the replication machinery is loaded at origins of DNA replication is poorly understood. Here, we implicate in this process… (More)
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Highly Cited
2003
Highly Cited
2003
BACKGROUND Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder associated with an increased predisposition to… (More)
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2002
2002
Rothmund-Thomson syndrome (RTS) is an extremely rare genetic disorder characterized by poikilodermatous skin changes… (More)
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2001
2001
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder that is caused by a DNA repair defect. It is characterized… (More)
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2001
2001
Rothmund-Thomson syndrome (RTS) is a genetic disease characterized by developmental abnormalities and poikilodermatous skin… (More)
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Highly Cited
1999
Highly Cited
1999
Rothmund-Thomson syndrome (RTS; also known as poikiloderma congenitale) is a rare, autosomal recessive genetic disorder… (More)
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Highly Cited
1999
Highly Cited
1999
RECQL4 is the fourth gene identified as a member of the human DNA helicase RecQ gene family including the genes for Werner… (More)
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1993
1993
A 10-year-old girl with Rothmund-Thomson syndrome developed a fibular osteosarcoma. Standard chemotherapy produced intolerable… (More)
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