DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES

Known as: PETTIGREW SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 5, MRXSF 
A rare, X-linked inherited syndrome characterized by mental retardation and additional features, which include choreoathetosis, hydrocephalus, Dandy… (More)
National Institutes of Health

Papers overview

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2014
2014
MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting… (More)
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Highly Cited
2014
Highly Cited
2014
The sequencing of libraries containing molecules shorter than the read length, such as in ancient or forensic applications, may… (More)
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2012
Highly Cited
2012
Frailty is a multidimensional geriatric syndrome characterised by a state of increased vulnerability to disease. Its causes are… (More)
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Review
2011
Review
2011
Clefts of the lip and/or palate (CLP) are common birth defects of complex aetiology. CLP can occur in isolation or as part of a… (More)
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2009
2009
BACKGROUND Endometriosis is a gynecological disease defined by the histological presence of endometrial glands and stroma outside… (More)
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Highly Cited
2008
Highly Cited
2008
Preimplantation genetic diagnosis for aneuploidy screening (preimplantation genetic screening-PGS) has been used to detect… (More)
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2007
Highly Cited
2007
We tried to evaluate and to compare usefulness of two brief cognitive tests in early detection of cognitive decline in subjects… (More)
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Highly Cited
2002
Highly Cited
2002
Chondroitin sulfate proteoglycan (CS-PG) expression is increased in response to CNS injury and limits the capacity for axonal… (More)
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Highly Cited
1985
Highly Cited
1985
In this study we have considered how equilibrium water content of the human nucleus pulposus varies with applied pressure for… (More)
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Highly Cited
1977
Highly Cited
1977
Prostaglandins (PGs) may be important in the growth of tumours (Jaffe, 1974) and their ability to metastasize to bone (Bennett et… (More)
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