De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.

De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.

Item
http://www.wikidata.org/entity/Q34873823
Induced gamma oscillations differentiate familiar and novel voices in children with MECP2 duplication and Rett syndromes.X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entityA partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities.MECP2 Duplication SyndromeXq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardationA sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes.The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism.Brachydactyly E: isolated or as a feature of a syndromeMECP2 duplication phenotype in symptomatic females: report of three further cases.De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?Brief report: regression timing and associated features in MECP2 duplication syndrome.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.Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum.
P2860

De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.

Item
http://www.wikidata.org/entity/Q34873823
description
2011 nî lūn-bûn
@nan
2011 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
De novo MECP2 duplication in t ...... d moderate mental retardation.
@ast
De novo MECP2 duplication in t ...... d moderate mental retardation.
@en
De novo MECP2 duplication in t ...... d moderate mental retardation.
@nl
type
label
De novo MECP2 duplication in t ...... d moderate mental retardation.
@ast
De novo MECP2 duplication in t ...... d moderate mental retardation.
@en
De novo MECP2 duplication in t ...... d moderate mental retardation.
@nl
prefLabel
De novo MECP2 duplication in t ...... d moderate mental retardation.
@ast
De novo MECP2 duplication in t ...... d moderate mental retardation.
@en
De novo MECP2 duplication in t ...... d moderate mental retardation.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
De novo MECP2 duplication in t ...... nd moderate mental retardation
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932