Intellectual disability, severe

Known as: Severe mental retardation, Severe mental subnormality, Severe intellectual disabilities 
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34. [HPO:probinson]
National Institutes of Health

Topic mentions per year

Topic mentions per year

1951-2018
05019512017

Papers overview

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Highly Cited
2010
Highly Cited
2010
Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial features and multiple congenital… (More)
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Highly Cited
2005
Highly Cited
2005
Loss-of-function mutations of the MECP2 gene at Xq28 are associated with Rett syndrome in females and with syndromic and… (More)
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Highly Cited
2005
Highly Cited
2005
Timothy syndrome (TS) is a multisystem disorder that causes syncope and sudden death from cardiac arrhythmias. Prominent features… (More)
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Highly Cited
2003
Highly Cited
2003
The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders. A new pathomechanism has… (More)
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Highly Cited
2001
Highly Cited
2001
Tuberous sclerosis (TSC) is a relatively common hamartoma syndrome caused by mutations in either of two genes, TSC1 and TSC2… (More)
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Highly Cited
2000
Highly Cited
2000
A goal of molecular genetics is to understand the relationship between basic nuclear processes, epigenetic changes and the… (More)
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Highly Cited
1999
Highly Cited
1999
In this study, we found that the E6-associated protein (E6-AP/UBE3A) directly interacts with and coactivates the transcriptional… (More)
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Highly Cited
1999
Highly Cited
1999
BACKGROUND No explanation for moderate to severe mental retardation is apparent in about 40% of cases. Although small chromosomal… (More)
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Highly Cited
1996
Highly Cited
1996
The aim of this study was to examine the prevalence of angelman syndrome in prepubertal school-aged children and analyze its… (More)
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Highly Cited
1992
Highly Cited
1992
Thyroid hormone exerts profound effects on the developing mammalian brain, and its deficiency can lead to severe mental… (More)
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