Neurocutaneous Syndromes

Known as: Neurocutaneous Syndromes [Disease/Finding], Neuroectodermal Dysplasia Syndromes, Phakomatosis 
A hereditary syndrome affecting the central nervous system that is associated with lesions of the skin and retina. Representative examples include… (More)
National Institutes of Health

Papers overview

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Highly Cited
2007
Highly Cited
2007
Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder marked by hamartoma growth in multiple organ systems… (More)
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Highly Cited
2006
Highly Cited
2006
PHACE (OMIM no. 606519) is a neurocutaneous syndrome that refers to the association of large, plaque-like, "segmental… (More)
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Review
2005
Review
2005
Neural crest cells are first recognized at the lateral margin of the neural placode shortly after gastrulation, although they are… (More)
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Review
2005
Review
2005
Epilepsy may be seen as a feature of many of the neurocutaneous syndromes. The challenge lies within the diagnosis of the… (More)
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Highly Cited
2001
Highly Cited
2001
Initially identified in high-grade gliomas, mutations in the PTEN tumor-suppressor are also found in many sporadic cancers and a… (More)
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Highly Cited
2000
Highly Cited
2000
OBJECTIVE To determine the risk for developing malignant melanoma and neurocutaneous melanocytosis (NCM) in patients with large… (More)
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Highly Cited
1996
Highly Cited
1996
BACKGROUND Large facial hemangiomas can have associated central nervous system malformations, particularly the Dandy-Walker… (More)
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Review
1993
Review
1993
Dysembryoplastic neuroepithelial tumours (DNTs) are a group of supratentorial cortical benignant lesions that superficially… (More)
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Review
1988
Review
1988
MRI is uniquely suited to demonstration of the wide array of brain abnormalities in the neurocutaneous syndromes, due to its… (More)
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Review
1983
Review
1983
Many of the neurocutaneous disorders are more common than once suspected, in part because patients with milder forms of the… (More)
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