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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5 Suppl
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pubmed:dateCreated |
2007-3-1
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pubmed:abstractText |
Mutations in the gene that codes for the human neural cell adhesion molecule L1 (L1CAM), are known to cause a wide variety of anomalies, now understood as phenotypic expressions of L1 syndrome. The correlations between genotype and phenotype, however, are not fully established. The authors report the results of a nationwide investigation of L1CAM gene mutations that was performed to improve the understanding of L1-mediated molecular mechanisms of X-linked hydrocephalus and to establish neurorimaging criteria for this severe form of L1 syndrome.
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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 |
Nov
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pubmed:issn |
0022-3085
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
105
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
403-12
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:17328266-Base Sequence,
pubmed-meshheading:17328266-Brain,
pubmed-meshheading:17328266-Genetic Diseases, X-Linked,
pubmed-meshheading:17328266-Humans,
pubmed-meshheading:17328266-Hydrocephalus,
pubmed-meshheading:17328266-Infant, Newborn,
pubmed-meshheading:17328266-Intellectual Disability,
pubmed-meshheading:17328266-Magnetic Resonance Imaging,
pubmed-meshheading:17328266-Male,
pubmed-meshheading:17328266-Mutation,
pubmed-meshheading:17328266-Neural Cell Adhesion Molecule L1,
pubmed-meshheading:17328266-Pedigree,
pubmed-meshheading:17328266-Severity of Illness Index,
pubmed-meshheading:17328266-Syndrome,
pubmed-meshheading:17328266-Tomography, X-Ray Computed,
pubmed-meshheading:17328266-Ultrasonography, Prenatal,
pubmed-meshheading:17328266-Ventriculoperitoneal Shunt
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pubmed:year |
2006
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pubmed:articleTitle |
Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus.
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pubmed:affiliation |
Institute for Clinical Research and Department of Neurosurgery, Osaka National Hospital, Osaka, Japan.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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