Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.
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Neonatal MeCP2 is important for the organization of sex differences in vasopressin expressionDishing out mini-brains: Current progress and future prospects in brain organoid researchFrom Learning to Memory: What Flies Can Tell Us about Intellectual Disability TreatmentA FOXG1 mutation in a boy with congenital variant of Rett syndrome.The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.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.Dysregulation of FOXG1 by ring chromosome 14.Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome.FOXG1-Related Disorders: From Clinical Description to Molecular Genetics.Isoform-specific toxicity of Mecp2 in postmitotic neurons: suppression of neurotoxicity by FoxG1FoxG1 promotes the survival of postmitotic neurons.14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.Gene expression profile in bone of diabetes-prone BB/OK rats fed a high-fat diet.14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.Apoptotic Activity of MeCP2 Is Enhanced by C-Terminal Truncating Mutations.Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay.Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.Dynamic Roles of microRNAs in NeurogenesisEpilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.The FOXG1/FOXO/SMAD network balances proliferation and differentiation of cortical progenitors and activates Kcnh3 expression in mature neuronsFOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome.Reply to Amor et al.A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.Rett syndrome causing genesWest syndrome associated with mosaic duplication ofFOXG1in a patient with maternal uniparental disomy of chromosome 14
P2860
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P2860
Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.
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2009 nî lūn-bûn
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2009 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հուլիսին հրատարակված գիտական հոդված
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2009年の論文
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2009年論文
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2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
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2009年论文
@wuu
name
Atypical Rett syndrome with se ...... port and review of literature.
@ast
Atypical Rett syndrome with se ...... port and review of literature.
@en
Atypical Rett syndrome with se ...... port and review of literature.
@nl
type
label
Atypical Rett syndrome with se ...... port and review of literature.
@ast
Atypical Rett syndrome with se ...... port and review of literature.
@en
Atypical Rett syndrome with se ...... port and review of literature.
@nl
prefLabel
Atypical Rett syndrome with se ...... port and review of literature.
@ast
Atypical Rett syndrome with se ...... port and review of literature.
@en
Atypical Rett syndrome with se ...... port and review of literature.
@nl
P2093
P2860
P356
P1476
Atypical Rett syndrome with se ...... port and review of literature.
@en
P2093
Francois Dominique Jacob
Francois V Bolduc
John Andersen
Vijay Ramaswamy
P2860
P2888
P304
P356
10.1038/EJHG.2009.95
P577
2009-07-22T00:00:00Z