Cri-du-Chat Syndrome

Known as: Syndromes, Chromosome 5p-, 5p- Syndromes, Chromosome, Syndromes, 5p Minus 
An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and… (More)
National Institutes of Health

Papers overview

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Highly Cited
2012
Highly Cited
2012
Glioblastoma multiforme (GBM) is a lethal brain tumour in adults and children. However, DNA copy number and gene expression… (More)
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Highly Cited
2005
Highly Cited
2005
We have used array comparative genomic hybridization to map DNA copy-number changes in 94 patients with cri du chat syndrome who… (More)
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Review
2004
Review
2004
Epigenetic mechanisms, which involve DNA and histone modifications, result in the heritable silencing of genes without a change… (More)
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Review
2004
Review
2004
Many of the diverse functional consequences of activating group 1 metabotropic glutamate receptors require translation of pre… (More)
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Highly Cited
2000
Highly Cited
2000
Delta-catenin is an adherens junction protein involved in cell motility and expressed early in neuronal development. It was… (More)
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1998
1998
Receptive and expressive language skills were assessed in 13 children with cri-du-chat syndrome. Two patterns of performance were… (More)
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1996
1996
Developmental and behavioural characteristics were assessed in 27 children with cri du chat syndrome using the Society for the… (More)
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1996
1996
The cri du chat syndrome or 5p deletion syndrome is a well-delineated clinical entity and has an incidence of 1/50,000 in newborn… (More)
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Highly Cited
1991
Highly Cited
1991
Fragile X syndrome is the most frequent form of inherited mental retardation and is associated with a fragile site at Xq27.3. We… (More)
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1983
1983
A population of 80 home-reared children with cri du chat syndrome was investigated to document the clinical heterogeneity of the… (More)
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