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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8
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pubmed:dateCreated |
2009-8-3
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pubmed:abstractText |
Recurrent 15q13.3 microdeletions were recently identified with identical proximal (BP4) and distal (BP5) breakpoints and associated with mild to moderate mental retardation and epilepsy.
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pubmed:grant |
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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 |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1468-6244
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pubmed:author |
pubmed-author:BakerCC,
pubmed-author:BarberJ CJC,
pubmed-author:BongersE MEM,
pubmed-author:BrunnerH GHG,
pubmed-author:CastleBB,
pubmed-author:ConnellL ELE,
pubmed-author:CrollaJ AJA,
pubmed-author:EichlerE EEE,
pubmed-author:EliaMM,
pubmed-author:FicheraMM,
pubmed-author:FinnemorePP,
pubmed-author:FouldsNN,
pubmed-author:FrynsJ PJP,
pubmed-author:HuangSS,
pubmed-author:InnisJ WJW,
pubmed-author:JanssensSS,
pubmed-author:KleefstraTT,
pubmed-author:KnightS J LSJ,
pubmed-author:KookHH,
pubmed-author:KoolenD ADA,
pubmed-author:KurgAA,
pubmed-author:LoeysBB,
pubmed-author:MadsenNikki JNJ,
pubmed-author:MaloneyV KVK,
pubmed-author:MeffordH CHC,
pubmed-author:MentenBB,
pubmed-author:MercerC LCL,
pubmed-author:MortierGG,
pubmed-author:NillesenW MWM,
pubmed-author:NobregaM AMA,
pubmed-author:OostraAA,
pubmed-author:OunapKK,
pubmed-author:Pérez-JuradoL ALA,
pubmed-author:ParkelSS,
pubmed-author:PereiraA CAC,
pubmed-author:PfundtRR,
pubmed-author:ReitanoSS,
pubmed-author:RomanoCC,
pubmed-author:Serra-JuhéCC,
pubmed-author:SharpA JAJ,
pubmed-author:SimoninBB,
pubmed-author:SmithKK,
pubmed-author:SpelemanFF,
pubmed-author:StewartHH,
pubmed-author:Van der AaNN,
pubmed-author:VandeweyerGG,
pubmed-author:VermeeschJ RJR,
pubmed-author:WillattLL,
pubmed-author:WoodsC GCG,
pubmed-author:de LeeuwNN,
pubmed-author:de RavelT J LTJ,
pubmed-author:de VriesB B ABB,
pubmed-author:van BonB W MBW,
pubmed-author:van KalmthoutMM,
pubmed-author:van RavenswaaijCC
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pubmed:issnType |
Electronic
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pubmed:volume |
46
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
511-23
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:19372089-Adolescent,
pubmed-meshheading:19372089-Adult,
pubmed-meshheading:19372089-Child,
pubmed-meshheading:19372089-Child, Preschool,
pubmed-meshheading:19372089-Chromosome Aberrations,
pubmed-meshheading:19372089-Chromosome Deletion,
pubmed-meshheading:19372089-Chromosome Disorders,
pubmed-meshheading:19372089-Chromosomes, Human, Pair 15,
pubmed-meshheading:19372089-Female,
pubmed-meshheading:19372089-Gene Duplication,
pubmed-meshheading:19372089-Humans,
pubmed-meshheading:19372089-Infant,
pubmed-meshheading:19372089-Infant, Newborn,
pubmed-meshheading:19372089-Intellectual Disability,
pubmed-meshheading:19372089-Male,
pubmed-meshheading:19372089-Oligonucleotide Array Sequence Analysis,
pubmed-meshheading:19372089-Pedigree,
pubmed-meshheading:19372089-Pregnancy,
pubmed-meshheading:19372089-Syndrome
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pubmed:year |
2009
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pubmed:articleTitle |
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.
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