A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
about
Dynamic FoxG1 expression coordinates the integration of multipolar pyramidal neuron precursors into the cortical plateThe core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.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 FoxG114q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.Genotyping FOXG1 Mutations in Patients with Clinical Evidence of the FOXG1 Syndrome.Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/-) patients and in foxg1(+/-) mice14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.Apoptotic Activity of MeCP2 Is Enhanced by C-Terminal Truncating Mutations.Radial glia, the keystone of the development of the hippocampal dentate gyrus.Brief report: systematic review of Rett syndrome in males.FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder.FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome.Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome.
P2860
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P2860
A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
description
2010 nî lūn-bûn
@nan
2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
@ast
A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
@en
type
label
A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
@ast
A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
@en
prefLabel
A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
@ast
A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
@en
P2093
P2860
P1433
P1476
A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
@en
P2093
Bertrand Diebold
Florence Raqbi
Isabelle Desguerre
Jamel Chelly
Juliette Nectoux
Tangui Le Guen
Thierry Bienvenu
Valérie Cormier Daire
Yann Fichou
P2860
P2888
P356
10.1007/S10048-010-0255-4
P577
2010-08-24T00:00:00Z