(Q28255289)

https://api.crossref.org/works/10.1177%2F1073858403260995

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Neuropathology of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Organ growth in Rett syndrome: a postmortem examination analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Autism as a strongly genetic disorder: evidence from a British twin study

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Mutation analysis of the coding sequence of the MECP2 gene in infantile autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

MECP2 mutations account for most cases of typical forms of Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

A tripartite protein complex with the potential to couple synaptic vesicle exocytosis to cell adhesion in brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Identification of MeCP2 mutations in a series of females with autistic disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Levetiracetam for acute mania

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Expression of MeCP2 in olfactory receptor neurons is developmentally regulated and occurs before synaptogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

MECP2 is highly mutated in X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

A Rett syndrome MECP2 mutation that causes mental retardation in men.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Neurogenesis and neuron regeneration in the olfactory system of mammals. II. Degeneration and reconstitution of the olfactory sensory neurons after axotomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Rett syndrome: Criteria for inclusion and exclusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Rett variants: a suggested model for inclusion criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Identification and characterization of a family of mammalian methyl-CpG binding proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

The methyl-CpG binding domain and the evolving role of DNA methylation in animals

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Dissociations of cerebral cortex, subcortical and cerebral white matter volumes in autistic boys

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Dendritic development in neocortex of children with mental defect and infantile spasms

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Synaptic density in human frontal cortex — Developmental changes and effects of aging

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Dendritic and synaptic pathology in mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

The neuropathology of phenylketonuria: human and animal studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Synaptogenesis in human visual cortex--evidence for synapse elimination during normal development

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Neuroligin 1: a splice site-specific ligand for beta-neurexins

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Binding of neuroligins to PSD-95

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Dendritic spine structural anomalies in fragile-X mental retardation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Male Rett syndrome variant: application of diagnostic criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Puppet-like syndrome of Angelman: a pathologic and neurochemical study

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

The expression of methyl CpG binding factor MeCP2 correlates with cellular differentiation in the developing rat brain and in cultured cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Neuropathology of infantile autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

CIPP, a novel multivalent PDZ domain protein, selectively interacts with Kir4.0 family members, NMDA receptor subunits, neurexins, and neuroligins

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Occurrence of Rett syndrome in boys

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Absence of MeCP2 mutations in patients from the South Carolina autism project

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Enhanced CpG mutability and tumorigenesis in MBD4-deficient mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

A 10-year-old boy with Marfan syndrome exhibiting cerebrovascular abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

DNA methylation specifies chromosomal localization of MeCP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Binding Properties of Neuroligin 1 and Neurexin 1β Reveal Function as Heterophilic Cell Adhesion Molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

MECP2 mutation in male patients with non-specific X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Rett syndrome. Current status and new vistas

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

No correlation between phenotype and genotype in boys with a truncating MECP2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Hippocampus in autism: a Golgi analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Olfactory biopsies demonstrate a defect in neuronal development in Rett's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Rett syndrome and MeCP2: linking epigenetics and neuronal function

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Neuroligin 1 is a postsynaptic cell-adhesion molecule of excitatory synapses

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Methyl CpG-binding proteins and transcriptional repression

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Low frequency of MECP2 mutations in mentally retarded males

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

The preserved speech variant: a subgroup of the Rett complex: a clinical report of 30 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Study of MECP2 gene in Rett syndrome variants and autistic girls.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Preserved speech variants of the Rett syndrome: molecular and clinical analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Rett syndrome: clinical manifestations in males with MECP2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Mice lacking methyl-CpG binding protein 1 have deficits in adult neurogenesis and hippocampal function

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

In-frame deletion inMECP2 causes mild nonspecific mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1073858403260995

21 January 2018

Identifiers

DOI

10.1177/1073858403260995

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4717185

Fatcat ID

release_wmcodhv5ozcgdgodyk6mx4lx5a

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wmcodhv5ozcgdgodyk6mx4lx5a

mapped directly with Wikidata item

24 November 2022

based on heuristic

OpenCitations bibliographic resource ID

4717185

1 reference