Identification of MeCP2 mutations in a series of females with autistic disorder
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Genomic and epigenetic evidence for oxytocin receptor deficiency in autismAutistic phenotypes and genetic testing: state-of-the-art for the clinical geneticistGenetics evaluation for the etiologic diagnosis of autism spectrum disordersThe genetics of autistic disorders and its clinical relevance: a review of the literatureMutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationRett syndrome: revised diagnostic criteria and nomenclatureDLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disordersModifiers and Readers of DNA Modifications and Their Impact on Genome Structure, Expression, and Stability in DiseaseMECP2 disorders: from the clinic to mice and backDNA modifications: function and applications in normal and disease StatesGenetic modifiers of MeCP2 function in Drosophila.The Intense World Theory – A Unifying Theory of the Neurobiology of AutismSex chromosome abnormalities and psychiatric diseasesA Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Rett syndrome: a prototypical neurodevelopmental disorderCrh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndromeMeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse numberA brain-derived MeCP2 complex supports a role for MeCP2 in RNA processingA partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndromeDysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypesLoss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome.Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies.A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale.Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylationAutism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.A Pilot Study for Discovering Candidate Genes of Chromosome 18q21 in Methamphetamine Abusers: Case-control Association Study.The genetics of autism: key issues, recent findings, and clinical implications.The role of MeCP2 in brain development and neurodevelopmental disordersX-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndromeRett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice.Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.Rett syndrome and the impact of MeCP2 associated transcriptional mechanisms on neurotransmissionAge-dependent expression of MeCP2 in a heterozygous mosaic mouse model.Autism-lessons from the X chromosome.Clinical genetics evaluation in identifying the etiology of autism spectrum disorders.Genome-wide assays that identify and quantify modified cytosines in human disease studiesAutism-associated gene expression in peripheral leucocytes commonly observed between subjects with autism and healthy women having autistic childrenModeling non-syndromic autism and the impact of TRPC6 disruption in human neurons.
P2860
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P2860
Identification of MeCP2 mutations in a series of females with autistic disorder
description
2003 nî lūn-bûn
@nan
2003 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մարտին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Identification of MeCP2 mutations in a series of females with autistic disorder
@ast
Identification of MeCP2 mutations in a series of females with autistic disorder
@en
Identification of MeCP2 mutations in a series of females with autistic disorder
@nl
type
label
Identification of MeCP2 mutations in a series of females with autistic disorder
@ast
Identification of MeCP2 mutations in a series of females with autistic disorder
@en
Identification of MeCP2 mutations in a series of females with autistic disorder
@nl
prefLabel
Identification of MeCP2 mutations in a series of females with autistic disorder
@ast
Identification of MeCP2 mutations in a series of females with autistic disorder
@en
Identification of MeCP2 mutations in a series of females with autistic disorder
@nl
P2093
P50
P3181
P1433
P1476
Identification of MeCP2 mutations in a series of females with autistic disorder
@en
P2093
Chantelle M Wolpert
Michael L Cuccaro
Mona Shahbazian
Regina M Carney
Sarah A Ravan
P304
P3181
P356
10.1016/S0887-8994(02)00624-0
P407
P577
2003-03-01T00:00:00Z