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- Q130555 subject Q6313232.
- Q130555 subject Q6584894.
- Q130555 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.".
- Q130555 omim "257320".
- Q130555 wikiPageExternalLink syndrome_cgiee80.html.
- Q130555 wikiPageWikiLink Q14897864.
- Q130555 wikiPageWikiLink Q1544416.
- Q130555 wikiPageWikiLink Q168403.
- Q130555 wikiPageWikiLink Q1753547.
- Q130555 wikiPageWikiLink Q220989.
- Q130555 wikiPageWikiLink Q2214869.
- Q130555 wikiPageWikiLink Q4052543.
- Q130555 wikiPageWikiLink Q414043.
- Q130555 wikiPageWikiLink Q5160442.
- Q130555 wikiPageWikiLink Q6313232.
- Q130555 wikiPageWikiLink Q657362.
- Q130555 wikiPageWikiLink Q6584894.
- Q130555 wikiPageWikiLink Q75839.
- Q130555 name "Norman–Roberts syndrome".
- Q130555 omim "257320".
- Q130555 type Disease.
- Q130555 type Thing.
- Q130555 type Q12136.
- Q130555 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.".
- Q130555 label "Norman–Roberts syndrome".
- Q130555 name "Norman–Roberts syndrome".