PITT-HOPKINS SYNDROME

Known as: Encephalopathy, Severe Epileptic, With Autonomic Dysfunction, Pitt Hopkins syndrome, Mental Retardation, Syndromal, With Intermittent Hyperventilation 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1970-2017
024619702017

Papers overview

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2018
2018
PURPOSE To investigate the effects of a community-based adapted walking intervention on a child with Pitt Hopkins syndrome (PTHS… (More)
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2016
2016
BACKGROUND Pitt-Hopkins syndrome (PTHS; MIM# 610954) is a genetically determined entity mainly caused by mutations in… (More)
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2016
2016
Mutations in TCF4 (basic helix-loop-helix transcription factor 4), a gene with complex organization and multiple transcription… (More)
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2015
2015
Pitt-Hopkins syndrome (PTHS) is caused by haploinsufficiency of Transcription factor 4 (TCF4), one of the three human class I… (More)
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2012
2012
Pitt-Hopkins syndrome (PTHS) is a rare developmental disorder associated with severe mental retardation, facial abnormalities… (More)
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2011
2011
In this study, we performed an in-depth analysis of the neurologic and ophthalmologic phenotype in a patient with Pitt–Hopkins… (More)
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2009
2009
Dialogues in Dermatology, a monthly audio program from the American Academy of Dermatology, contains discussions between… (More)
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Review
2008
Review
2008
Hyperventilation is defined as an increase in respiratory minute volume beyond the normal for a particular individual… (More)
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2007
2007
One of the key pathological features of Alzheimer's disease is the aggregation of tau protein. We are therefore searching for… (More)
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2006
2006
Plated through hole (PTH) failure due to CTE-mismatch-induced fatigue is a major interconnection failure in electronic products… (More)
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