Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome.
about
Rett syndrome: clinical review and genetic updateHigh male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders.Rett syndrome.Monozygotic twins discordant for Aicardi syndromeLinkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspotsEpigenetic investigation of variably X chromosome inactivated genes in monozygotic female twins discordant for primary biliary cirrhosis.A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesisProgress in Rett Syndrome: from discovery to clinical trialsPerspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?Monozygotic twins with Rett syndrome: Phenotyping the first two years of life.
P2860
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P2860
Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Studies of X inactivation and ...... not involved in Rett syndrome.
@ast
Studies of X inactivation and ...... not involved in Rett syndrome.
@en
type
label
Studies of X inactivation and ...... not involved in Rett syndrome.
@ast
Studies of X inactivation and ...... not involved in Rett syndrome.
@en
prefLabel
Studies of X inactivation and ...... not involved in Rett syndrome.
@ast
Studies of X inactivation and ...... not involved in Rett syndrome.
@en
P2093
P2860
P1476
Studies of X inactivation and ...... not involved in Rett syndrome
@en
P2093
B J Schmeckpeper
B R Migeon
P2860
P304
P407
P577
1995-03-01T00:00:00Z