FOXG1 is responsible for the congenital variant of Rett syndrome
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Rett syndrome: revised diagnostic criteria and nomenclatureInduced Pluripotent Stem Cells as a Novel Tool in Psychiatric ResearchRecent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practiceA genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?Delineation of the movement disorders associated withFOXG1mutations: Table 1Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexesDynamic FoxG1 expression coordinates the integration of multipolar pyramidal neuron precursors into the cortical plateTSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.Phosphorylation on threonine 11 of β-dystrobrevin alters its interaction with kinesin heavy chainFOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum DisordersSpatio-temporal transcriptome of the human brainAutosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.Preclinical research in Rett syndrome: setting the foundation for translational success.InterRett, a model for international data collection in a rare genetic disorderWhole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.Over-expression of either MECP2_e1 or MECP2_e2 in neuronally differentiated cells results in different patterns of gene expressionIdentification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain.Noninvasive in vivo monitoring of tissue-specific global gene expression in humans.A FOXG1 mutation in a boy with congenital variant of Rett syndrome.The role of MeCP2 in brain development and neurodevelopmental disordersThe core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.Deletions of chromosomal regulatory boundaries are associated with congenital disease.Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.Rett syndrome and the impact of MeCP2 associated transcriptional mechanisms on neurotransmissionImmune dysfunction in Rett syndrome patients revealed by high levels of serum anti-N(Glc) IgM antibody fraction.Setdb1-mediated histone H3K9 hypermethylation in neurons worsens the neurological phenotype of Mecp2-deficient mice.Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.Drosophila modeling of heritable neurodevelopmental disordersGenetic controls balancing excitatory and inhibitory synaptogenesis in neurodevelopmental disorder models.Epilepsy and outcome in FOXG1-related disordersNeuromolecular responses to social challenge: common mechanisms across mouse, stickleback fish, and honey bee.Investigation of modifier genes within copy number variations in Rett syndromeTrends in the diagnosis of Rett syndrome in Australia.Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndromeDysregulation of FOXG1 by ring chromosome 14.CAGE-defined promoter regions of the genes implicated in Rett Syndrome.A winged-helix transcription factor foxg1 induces expression of mss4 gene in rat hippocampal progenitor cellsAnalysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome.iPS cells to model CDKL5-related disorders.
P2860
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P2860
FOXG1 is responsible for the congenital variant of Rett syndrome
description
2008 nî lūn-bûn
@nan
2008 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
FOXG1 is responsible for the congenital variant of Rett syndrome
@ast
FOXG1 is responsible for the congenital variant of Rett syndrome
@en
FOXG1 is responsible for the congenital variant of Rett syndrome
@nl
type
label
FOXG1 is responsible for the congenital variant of Rett syndrome
@ast
FOXG1 is responsible for the congenital variant of Rett syndrome
@en
FOXG1 is responsible for the congenital variant of Rett syndrome
@nl
prefLabel
FOXG1 is responsible for the congenital variant of Rett syndrome
@ast
FOXG1 is responsible for the congenital variant of Rett syndrome
@en
FOXG1 is responsible for the congenital variant of Rett syndrome
@nl
P2093
P2860
P50
P921
P3181
P1476
FOXG1 is responsible for the congenital variant of Rett syndrome
@en
P2093
Ariele Spanhol-Rosseto
Dalila Rondinella
Giuseppe Hayek
Ilaria Longo
Maria Antonietta Mencarelli
Marzia Pollazzon
Michele Zappella
Ottavia Spiga
Rosangela Artuso
Sabrina Buoni
P2860
P3181
P356
10.1016/J.AJHG.2008.05.015
P407
P577
2008-07-01T00:00:00Z