Nijmegen Breakage Syndrome

Known as: Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies, Ataxia Telangiectasia Variant V1, Seemanova Syndrome II 
A chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and… (More)
National Institutes of Health

Papers overview

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Review
2016
Review
2016
Aside from inheriting half of the genome of each of our parents, we are born with a small number of novel mutations that occurred… (More)
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Review
2012
Review
2012
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by… (More)
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Highly Cited
2009
Highly Cited
2009
The MRE11/RAD50/NBN (MRN) complex plays a key role in recognizing and signaling DNA double-strand breaks (DSBs). Hypomorphic… (More)
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Highly Cited
2007
Highly Cited
2007
MRE11-RAD50-NBS1 (MRN) is a conserved nuclease complex that exhibits properties of a DNA damage sensor and is critical in… (More)
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Highly Cited
2002
Highly Cited
2002
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, immunodeficiency, and… (More)
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Highly Cited
1998
Highly Cited
1998
Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth… (More)
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Highly Cited
1998
Highly Cited
1998
Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder characterized by increased cancer incidence, cell cycle… (More)
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Highly Cited
1998
Highly Cited
1998
Nijmegen breakage syndrome (NBS), also known as ataxia-telangiectasia (AT) variant, is an autosomal recessive disorder… (More)
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Review
1996
Review
1996
Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and… (More)
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Highly Cited
1981
Highly Cited
1981
A 10-year-old boy with microcephaly, stunted growth, mental retardation, café-au-lait spots and immunodeficiency is described. An… (More)
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