Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.
about
FOXG1 is responsible for the congenital variant of Rett syndromeSwitching modes in corticogenesis: mechanisms of neuronal subtype transitions and integration in the cerebral cortexDelineation of the movement disorders associated withFOXG1mutations: Table 1Foxg1 is required for morphogenesis and histogenesis of the mammalian inner earFOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum DisordersFunctional and evolutionary insights into human brain development through global transcriptome analysisA 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.Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.Dysregulation of FOXG1 by ring chromosome 14.FOXG1-Related Disorders: From Clinical Description to Molecular Genetics.A child with mosaicism for deletion (14)(q11.2q13).Foxg1 localizes to mitochondria and coordinates cell differentiation and bioenergetics14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.Transcriptional repression of AIB1 by FoxG1 leads to apoptosis in breast cancer cellsPlatelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.Role of H3K4 demethylases in complex neurodevelopmental diseases.Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.Genetic disorders associated with postnatal microcephaly.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.Do regulatory regions matter in FOXG1 duplications?Somatic mosaicism for a FOXG1 mutation: diagnostic implication.Regulatory variants of FOXG1 in the context of its topological domain organisation.Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin.Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.West syndrome associated with mosaic duplication ofFOXG1in a patient with maternal uniparental disomy of chromosome 14
P2860
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P2860
Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.
description
2005 nî lūn-bûn
@nan
2005 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Haploinsufficiency of novel FO ...... alformations and microcephaly.
@ast
Haploinsufficiency of novel FO ...... alformations and microcephaly.
@en
Haploinsufficiency of novel FO ...... alformations and microcephaly.
@nl
type
label
Haploinsufficiency of novel FO ...... alformations and microcephaly.
@ast
Haploinsufficiency of novel FO ...... alformations and microcephaly.
@en
Haploinsufficiency of novel FO ...... alformations and microcephaly.
@nl
prefLabel
Haploinsufficiency of novel FO ...... alformations and microcephaly.
@ast
Haploinsufficiency of novel FO ...... alformations and microcephaly.
@en
Haploinsufficiency of novel FO ...... alformations and microcephaly.
@nl
P2093
P921
P1433
P1476
Haploinsufficiency of novel FO ...... alformations and microcephaly.
@en
P2093
Can Schell-Apacik
Hans-Hilger Ropers
Hubertus von Voss
Petra Viertel
Sarah A Shoichet
Stella-Amrei Kunde
P2888
P304
P356
10.1007/S00439-005-1310-3
P577
2005-08-17T00:00:00Z
P6179
1004150659