Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.
about
X-linked disorders with cerebellar dysgenesisMECP2 disorders: from the clinic to mice and backThe impact of MeCP2 loss- or gain-of-function on synaptic plasticityAutism spectrum disorders and neuropathology of the cerebellumFMRP Expression Levels in Mouse Central Nervous System Neurons Determine Behavioral Phenotype.Clinical impacts of genomic copy number gains at Xq28A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections.De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.MECP2 Duplication SyndromeXq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardationIsoform-specific toxicity of Mecp2 in postmitotic neurons: suppression of neurotoxicity by FoxG1A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes.Is autism a disease of the cerebellum? An integration of clinical and pre-clinical research.MECP2 duplication phenotype in symptomatic females: report of three further cases.Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature.De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.Expanding the clinical picture of the MECP2 Duplication syndrome.Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?Infectious and immunologic phenotype of MECP2 duplication syndrome.De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation.Insights into the cellular and molecular contributions of MeCP2 overexpression to disease pathophysiology.Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia.MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum.Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.A perspective on "cure" for Rett syndrome.
P2860
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P2860
Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
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2010年學術文章
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2010年學術文章
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name
Progressive cerebellar degener ...... CP2 and adjacent loci on Xq28.
@en
Progressive cerebellar degener ...... CP2 and adjacent loci on Xq28.
@nl
type
label
Progressive cerebellar degener ...... CP2 and adjacent loci on Xq28.
@en
Progressive cerebellar degener ...... CP2 and adjacent loci on Xq28.
@nl
prefLabel
Progressive cerebellar degener ...... CP2 and adjacent loci on Xq28.
@en
Progressive cerebellar degener ...... CP2 and adjacent loci on Xq28.
@nl
P2093
P1476
Progressive cerebellar degener ...... CP2 and adjacent loci on Xq28.
@en
P2093
Anne-Marie Murphy
Lisbeth Birk Møller
Mary D King
Philip D Mayne
Veronica Donoghue
William Reardon
P2888
P304
P356
10.1007/S00431-010-1144-4
P577
2010-02-23T00:00:00Z