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- Norman–Roberts_syndrome abstract "Lissencephaly 2, more commonly called Norman–Roberts syndrome, is a rare form of lissencephaly caused by a mutation in the reelin gene. A small number of cases have been described. The syndrome was first reported by M. Norman and M. Roberts et al. in 1976.Lack of reelin prevents normal layering of the cerebral cortex and disrupts cognitive development. Patients have cerebellar hypoplasia and suffer from congenital lymphedema and hypotonia. The disorder is also associated with myopia, nystagmus and generalized seizures. Norman–Roberts syndrome is one of two known disorders caused by a disruption of the reelin-signaling pathway. The other is VLDLR-associated cerebellar hypoplasia, which is caused by a mutation in the gene coding for one of the reelin receptors, VLDLR.Disruption of the RELN gene in human patients is analogous to the malfunctioning RELN gene in the reeler mouse.".
- Norman–Roberts_syndrome omim "257320".
- Norman–Roberts_syndrome wikiPageExternalLink syndrome_cgiee80.html.
- Norman–Roberts_syndrome wikiPageID "14541002".
- Norman–Roberts_syndrome wikiPageLength "2191".
- Norman–Roberts_syndrome wikiPageOutDegree "14".
- Norman–Roberts_syndrome wikiPageRevisionID "659268002".
- Norman–Roberts_syndrome wikiPageWikiLink Category:Congenital_disorders.
- Norman–Roberts_syndrome wikiPageWikiLink Category:Neurological_disorders.
- Norman–Roberts_syndrome wikiPageWikiLink Cerebellar_hypoplasia.
- Norman–Roberts_syndrome wikiPageWikiLink Cerebral_cortex.
- Norman–Roberts_syndrome wikiPageWikiLink Congenital_lymphedema.
- Norman–Roberts_syndrome wikiPageWikiLink Hypotonia.
- Norman–Roberts_syndrome wikiPageWikiLink Lissencephaly.
- Norman–Roberts_syndrome wikiPageWikiLink Myopia.
- Norman–Roberts_syndrome wikiPageWikiLink Nystagmus.
- Norman–Roberts_syndrome wikiPageWikiLink Reeler.
- Norman–Roberts_syndrome wikiPageWikiLink Reelin.
- Norman–Roberts_syndrome wikiPageWikiLink VLDLR-associated_cerebellar_hypoplasia.
- Norman–Roberts_syndrome wikiPageWikiLink VLDL_receptor.
- Norman–Roberts_syndrome wikiPageWikiLinkText "Lissencephaly syndrome, norman-roberts type".
- Norman–Roberts_syndrome wikiPageWikiLinkText "Norman–Roberts syndrome".
- Norman–Roberts_syndrome name "Norman–Roberts syndrome".
- Norman–Roberts_syndrome omim "257320".
- Norman–Roberts_syndrome wikiPageUsesTemplate Template:Infobox_disease.
- Norman–Roberts_syndrome wikiPageUsesTemplate Template:Reflist.
- Norman–Roberts_syndrome subject Category:Congenital_disorders.
- Norman–Roberts_syndrome subject Category:Neurological_disorders.
- Norman–Roberts_syndrome hypernym Form.
- Norman–Roberts_syndrome type Disease.
- Norman–Roberts_syndrome type Disorder.
- Norman–Roberts_syndrome type Pediatric.
- Norman–Roberts_syndrome type Thing.
- Norman–Roberts_syndrome type Q12136.
- Norman–Roberts_syndrome comment "Lissencephaly 2, more commonly called Norman–Roberts syndrome, is a rare form of lissencephaly caused by a mutation in the reelin gene. A small number of cases have been described. The syndrome was first reported by M. Norman and M. Roberts et al. in 1976.Lack of reelin prevents normal layering of the cerebral cortex and disrupts cognitive development. Patients have cerebellar hypoplasia and suffer from congenital lymphedema and hypotonia.".
- Norman–Roberts_syndrome label "Norman–Roberts syndrome".
- Norman–Roberts_syndrome sameAs Q130555.
- Norman–Roberts_syndrome sameAs Norman–Robertsin_lissenkefaliaoireyhtymä.
- Norman–Roberts_syndrome sameAs Microlissencéphalie.
- Norman–Roberts_syndrome sameAs Type-2-lissencefalie.
- Norman–Roberts_syndrome sameAs m.03d72kn.
- Norman–Roberts_syndrome sameAs Синдром_Норман_—_Робертс.
- Norman–Roberts_syndrome sameAs Q130555.
- Norman–Roberts_syndrome wasDerivedFrom Norman–Roberts_syndrome?oldid=659268002.
- Norman–Roberts_syndrome isPrimaryTopicOf Norman–Roberts_syndrome.
- Norman–Roberts_syndrome name "Norman–Roberts syndrome".