×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
Biomarker
disease
CTD_human
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
CausalMutation
disease
CLINVAR
Here, we report the identification of FOXG1 -truncating mutations in two patients affected by the congenital variant of Rett syndrome .
18571142
2008
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
Biomarker
disease
GENOMICS_ENGLAND
Here, we report the identification of FOXG1 -truncating mutations in two patients affected by the congenital variant of Rett syndrome .
18571142
2008
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
CausalMutation
disease
CLINVAR
Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.
19564653
2010
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
GeneticVariation
disease
UNIPROT
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome .
19578037
2010
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
CausalMutation
disease
CLINVAR
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.
19806373
2010
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
GeneticVariation
disease
UNIPROT
The forkhead box G1 (FOXG1 )gene has recently been associated with the congenital variant of Rett syndrome , and so far 17 mutations have been reported.
21280142
2011
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
CausalMutation
disease
CLINVAR
The forkhead box G1 (FOXG1 )gene has recently been associated with the congenital variant of Rett syndrome , and so far 17 mutations have been reported.
21280142
2011
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
Biomarker
disease
GENOMICS_ENGLAND
Submicroscopic deletions in 14q12 spanning FOXG1 or intragenic mutations have been reported in patients with a developmental disorder described as a congenital variant of Rett syndrome .
21441262
2011
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
CausalMutation
disease
CLINVAR
Submicroscopic deletions in 14q12 spanning FOXG1 or intragenic mutations have been reported in patients with a developmental disorder described as a congenital variant of Rett syndrome .
21441262
2011
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
CausalMutation
disease
CLINVAR
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics.
22091895
2012
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
CausalMutation
disease
CLINVAR
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.
22739344
2012
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
GeneticVariation
disease
BEFREE
We expand the mutational spectrum in patients with FOXG1 -related encephalopathies and precise the core FOXG1 syndrome phenotype.
22739344
2012
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
Biomarker
disease
BEFREE
14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome -like phenotype.
22968132
2013
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
Biomarker
disease
BEFREE
Our data and review of previous reports highlight dysregulation of FOXG1 pathway as the cause of the "FOXG1 syndrome " developmental disorder.
23956198
2013
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
CausalMutation
disease
CLINVAR
Epilepsy and outcome in FOXG1-related disorders.
24836831
2014
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
CausalMutation
disease
CLINVAR
The usefulness of whole-exome sequencing in routine clinical practice.
24901346
2014
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
CausalMutation
disease
CLINVAR
De novo mutations in moderate or severe intellectual disability.
25356899
2014
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
CausalMutation
disease
CLINVAR
The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.
26344814
2016
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
GeneticVariation
disease
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784
2016
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
GeneticVariation
disease
UNIPROT
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
26993267
2016
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
CausalMutation
disease
CLINVAR
Delineation of the movement disorders associated with FOXG1 mutations.
27029630
2016
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
GeneticVariation
disease
BEFREE
FOXG1 syndrome : genotype-phenotype association in 83 patients with FOXG1 variants.
28661489
2018
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
CausalMutation
disease
CLINVAR
Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.
28851325
2017
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.790
Biomarker
disease
GENOMICS_ENGLAND
Emerging Monogenic Complex Hyperkinetic Disorders.
29086067
2017