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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2002-3-26
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pubmed:abstractText |
To examine the clinical and MRI associations in bilateral periventricular nodular heterotopia (BPNH) (MIM # 300049) in two families segregating a missense mutation and a C-terminal deletion of the filamin 1(FLN1) gene.
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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 |
0028-3878
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
26
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pubmed:volume |
58
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
916-21
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:11914408-Abortion, Spontaneous,
pubmed-meshheading:11914408-Adolescent,
pubmed-meshheading:11914408-Adult,
pubmed-meshheading:11914408-Amino Acid Sequence,
pubmed-meshheading:11914408-Cerebral Cortex,
pubmed-meshheading:11914408-Choristoma,
pubmed-meshheading:11914408-Contractile Proteins,
pubmed-meshheading:11914408-Epilepsy,
pubmed-meshheading:11914408-Female,
pubmed-meshheading:11914408-Gene Deletion,
pubmed-meshheading:11914408-Humans,
pubmed-meshheading:11914408-Infant,
pubmed-meshheading:11914408-Infant, Newborn,
pubmed-meshheading:11914408-Lateral Ventricles,
pubmed-meshheading:11914408-Magnetic Resonance Imaging,
pubmed-meshheading:11914408-Male,
pubmed-meshheading:11914408-Microfilament Proteins,
pubmed-meshheading:11914408-Middle Aged,
pubmed-meshheading:11914408-Molecular Sequence Data,
pubmed-meshheading:11914408-Mutation, Missense,
pubmed-meshheading:11914408-Pedigree
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pubmed:year |
2002
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pubmed:articleTitle |
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.
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pubmed:affiliation |
Neurogenetics Laboratory, Division of Child Neurology and Psychiatry, University of Pisa, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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