15249610

Source:http://linkedlifedata.com/resource/pubmed/id/15249610

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0025266, umls-concept:C0026882, umls-concept:C0439750, umls-concept:C1414635, umls-concept:C2678104
pubmed:issue	1
pubmed:dateCreated	2004-7-13
pubmed:databankReference	http://linkedlifedata.com/resource/pubmed/xref/OMIM/300049
pubmed:abstractText	To describe the phenotypic spectrum and genetics of periventricular nodular heterotopia (PNH) caused by FLN1 mutations in four men.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0401060
pubmed:citationSubset	AIM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Contractile Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Microfilament Proteins, http://linkedlifedata.com/resource/pubmed/chemical/RNA Splice Sites, http://linkedlifedata.com/resource/pubmed/chemical/filamins
pubmed:status	MEDLINE
pubmed:month	Jul
pubmed:issn	1526-632X
pubmed:author	pubmed-author:CampistolJJ, pubmed-author:DobynsW BWB, pubmed-author:DornTT, pubmed-author:GuerriniRR, pubmed-author:HardingBB, pubmed-author:KrämerGG, pubmed-author:MewJJ, pubmed-author:MoraHH, pubmed-author:ParriniEE, pubmed-author:SiccaFF, pubmed-author:SisodiyaSS, pubmed-author:TakahashiYY, pubmed-author:YoshidaAA
pubmed:issnType	Electronic
pubmed:day	13
pubmed:volume	63
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	51-6
pubmed:dateRevised	2006-11-15
pubmed:meshHeading	pubmed-meshheading:15249610-Abnormalities, Multiple, pubmed-meshheading:15249610-Brain Diseases, pubmed-meshheading:15249610-Cell Movement, pubmed-meshheading:15249610-Cerebral Ventricles, pubmed-meshheading:15249610-Child, Preschool, pubmed-meshheading:15249610-Choristoma, pubmed-meshheading:15249610-Chromosomes, Human, X, pubmed-meshheading:15249610-Cisterna Magna, pubmed-meshheading:15249610-Contractile Proteins, pubmed-meshheading:15249610-DNA Mutational Analysis, pubmed-meshheading:15249610-Dosage Compensation, Genetic, pubmed-meshheading:15249610-Female, pubmed-meshheading:15249610-Genes, Lethal, pubmed-meshheading:15249610-Genetic Diseases, X-Linked, pubmed-meshheading:15249610-Germ-Line Mutation, pubmed-meshheading:15249610-Hair Follicle, pubmed-meshheading:15249610-Humans, pubmed-meshheading:15249610-Infant, Newborn, pubmed-meshheading:15249610-Introns, pubmed-meshheading:15249610-Male, pubmed-meshheading:15249610-Microfilament Proteins, pubmed-meshheading:15249610-Middle Aged, pubmed-meshheading:15249610-Mosaicism, pubmed-meshheading:15249610-Mutation, Missense, pubmed-meshheading:15249610-Neurons, pubmed-meshheading:15249610-Pedigree, pubmed-meshheading:15249610-Phenotype, pubmed-meshheading:15249610-Point Mutation, pubmed-meshheading:15249610-RNA Splice Sites, pubmed-meshheading:15249610-Sequence Deletion
pubmed:year	2004
pubmed:articleTitle	Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
pubmed:affiliation	Division of Child Neurology and Psychiatry, University of Pisa and IRCCS Fondazione Stella Maris, via dei Giacinti 2, 56018 Calambrone Pisa, Italy. renzo.guerrini@inpe.unipi.it
pubmed:publicationType	Journal Article, Case Reports, Research Support, Non-U.S. Gov't