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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
2008-3-18
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pubmed:abstractText |
The purpose of this study was to systematically analyze the associations between different TSC1 and TSC2 mutations and the neurologic and cognitive phenotype in patients with tuberous sclerosis complex (TSC).
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
1526-632X
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pubmed:author |
pubmed-author:AlgraAA,
pubmed-author:AnbeekPP,
pubmed-author:BraamsOO,
pubmed-author:HallerOO,
pubmed-author:JansenF EFE,
pubmed-author:Jennekens-SchinkelAA,
pubmed-author:NellistMM,
pubmed-author:VinckenK LKL,
pubmed-author:ZonnenbergB ABA,
pubmed-author:van HuffelenA CAC,
pubmed-author:van NieuwenhuizenOO,
pubmed-author:van den OuwelandAA
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pubmed:issnType |
Electronic
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pubmed:day |
18
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pubmed:volume |
70
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
908-15
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:18032745-Adolescent,
pubmed-meshheading:18032745-Adult,
pubmed-meshheading:18032745-Age of Onset,
pubmed-meshheading:18032745-Child,
pubmed-meshheading:18032745-Child, Preschool,
pubmed-meshheading:18032745-Cognition Disorders,
pubmed-meshheading:18032745-DNA Mutational Analysis,
pubmed-meshheading:18032745-Epilepsy,
pubmed-meshheading:18032745-Female,
pubmed-meshheading:18032745-Genetic Predisposition to Disease,
pubmed-meshheading:18032745-Genetic Testing,
pubmed-meshheading:18032745-Genotype,
pubmed-meshheading:18032745-Humans,
pubmed-meshheading:18032745-Infant,
pubmed-meshheading:18032745-Male,
pubmed-meshheading:18032745-Middle Aged,
pubmed-meshheading:18032745-Mutation,
pubmed-meshheading:18032745-Neuropsychological Tests,
pubmed-meshheading:18032745-Phenotype,
pubmed-meshheading:18032745-Predictive Value of Tests,
pubmed-meshheading:18032745-Prognosis,
pubmed-meshheading:18032745-Protein Structure, Tertiary,
pubmed-meshheading:18032745-Tuberous Sclerosis,
pubmed-meshheading:18032745-Tumor Suppressor Proteins
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pubmed:year |
2008
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pubmed:articleTitle |
Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations.
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pubmed:affiliation |
Rudolf Magnus Institute of Neuroscience, Department of Child Neurology, University Medical Centre, 3508 GA Utrecht, The Netherlands. f.e.jansen@umcutrecht.nl
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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