Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2005-1-25
pubmed:abstractText
To define the clinical, radiologic, and genetic features of periventricular heterotopia (PH) with Ehlers-Danlos syndrome (EDS).
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1526-632X
pubmed:author
pubmed-author:AndermannEE, pubmed-author:AndermannFF, pubmed-author:BRUNCC, pubmed-author:BarkovichJJ, pubmed-author:Berry-KravisEE, pubmed-author:BodellAA, pubmed-author:ChenM HMH, pubmed-author:DubeauFF, pubmed-author:GaneshVV, pubmed-author:GengYY, pubmed-author:GrippK WKW, pubmed-author:GuerriniRR, pubmed-author:HillR SRS, pubmed-author:HutchinsG MGM, pubmed-author:JansenAA, pubmed-author:LeventerRR, pubmed-author:MenashaJJ, pubmed-author:MorganTT, pubmed-author:NicholsonLL, pubmed-author:ParriniEE, pubmed-author:RavenscroftRR, pubmed-author:RobertsonSS, pubmed-author:RuizD EDE, pubmed-author:SheenV LVL, pubmed-author:ShugartY YYY, pubmed-author:ThomasPP, pubmed-author:UnderwoodTT, pubmed-author:VaidR RRR, pubmed-author:VeggiottiPP, pubmed-author:VirkKK, pubmed-author:WalshC ACA, pubmed-author:WileyJJ, pubmed-author:WillnerJJ
pubmed:issnType
Electronic
pubmed:day
25
pubmed:volume
64
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
254-62
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed-meshheading:15668422-Adolescent, pubmed-meshheading:15668422-Adult, pubmed-meshheading:15668422-Amino Acid Substitution, pubmed-meshheading:15668422-Brain, pubmed-meshheading:15668422-Child, pubmed-meshheading:15668422-Chromosomes, Human, X, pubmed-meshheading:15668422-Contractile Proteins, pubmed-meshheading:15668422-DNA Mutational Analysis, pubmed-meshheading:15668422-Ehlers-Danlos Syndrome, pubmed-meshheading:15668422-Epilepsy, pubmed-meshheading:15668422-Exons, pubmed-meshheading:15668422-Female, pubmed-meshheading:15668422-Humans, pubmed-meshheading:15668422-Infant, pubmed-meshheading:15668422-Magnetic Resonance Imaging, pubmed-meshheading:15668422-Male, pubmed-meshheading:15668422-Microfilament Proteins, pubmed-meshheading:15668422-Microsatellite Repeats, pubmed-meshheading:15668422-Middle Aged, pubmed-meshheading:15668422-Mutation, Missense, pubmed-meshheading:15668422-Pedigree, pubmed-meshheading:15668422-Phenotype, pubmed-meshheading:15668422-Point Mutation, pubmed-meshheading:15668422-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:15668422-Sequence Deletion
pubmed:year
2005
pubmed:articleTitle
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
pubmed:affiliation
Division of Neurogenetics, Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Boston, MA, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural