Haploinsufficiency

Known as: Haploinsufficiencies 
A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1991-2017
05019912017

Papers overview

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Highly Cited
2015
Highly Cited
2015
Amyotrophic lateral sclerosis (ALS) is a genetically heterogeneous neurodegenerative syndrome hallmarked by adult-onset loss of… (More)
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Highly Cited
2010
Highly Cited
2010
Haploinsufficiency, wherein a single functional copy of a gene is insufficient to maintain normal function, is a major cause of… (More)
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Highly Cited
2008
Highly Cited
2008
We previously reported that central nervous system (CNS) inactivation of Nf1 and p53 tumor suppressor genes in mice results in… (More)
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Highly Cited
2005
Highly Cited
2005
Dyskeratosis congenita is a rare inherited disorder characterized by abnormal skin manifestations. Morbidity and mortality from… (More)
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Highly Cited
2003
Highly Cited
2003
Histone H2AX becomes phosphorylated in chromatin domains flanking sites of DNA double-strand breakage associated with gamma… (More)
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Highly Cited
2003
Highly Cited
2003
Headache attacks and autonomic dysfunctions characterize migraine, a very common, disabling disorder with a prevalence of 12% in… (More)
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Highly Cited
2002
Highly Cited
2002
We isolated NSD1 from the 5q35 breakpoint in an individual with Sotos syndrome harboring a chromosomal translocation. We… (More)
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Highly Cited
2001
Highly Cited
2001
Protamines are the major DNA-binding proteins in the nucleus of sperm in most vertebrates and package the DNA in a volume less… (More)
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Highly Cited
2001
Highly Cited
2001
In humans, SOX9 heterozygous mutations cause the severe skeletal dysmorphology syndrome campomelic dysplasia. Except for clinical… (More)
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Highly Cited
1999
Highly Cited
1999
Familial platelet disorder with predisposition to acute myelogenous leukaemia (FPD/AML, MIM 601399) is an autosomal dominant… (More)
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