Congenital encephalopathy

 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1960-2017
01219602017

Papers overview

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2017
2017
Recent research in the field of genomics and epigenetics has provided evidence that alterations in the system of epigenetic… (More)
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2012
2012
Defects of mitochondrial protein synthesis are clinically and genetically heterogeneous. We previously described a male infant… (More)
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2009
2009
Pitt-Hopkins syndrome is a severe congenital encephalopathy recently ascribed to de novo heterozygous TCF4 gene mutations. We… (More)
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Review
2008
Review
2008
Non-mosaic males with a 46,XY karyotype and a MECP2 null mutation display a phenotype of severe neonatal-onset encephalopathy… (More)
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2004
2004
Rett syndrome (RTT) is one of the most common neurodevelopmental disorders in females. The disease is caused by mutations in the… (More)
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2002
2002
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene, with apparent lethality in… (More)
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1996
1996
Six of nine children born from first-cousin parents presented with the same clinical picture: non-progressive congenital… (More)
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1990
1990
We report severe congenital encephalopathy and profound hypotonia associated with necrotizing myopathy, cardiomyopathy, and… (More)
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1960
1960
 
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