FOXG1 syndrome
|
0.790 |
Biomarker
|
disease |
BEFREE |
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.
|
31019990 |
2019 |
FOXG1 syndrome
|
0.790 |
Biomarker
|
disease |
BEFREE |
Our findings identify a novel role of Foxg1 in SST-IN development and put new insights into the cellular basis of FOXG1 syndrome.
|
31237323 |
2019 |
FOXG1 syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human FOXG1 cause deficiencies in learning and memory and limit social ability, which is defined as FOXG1 syndrome, but its pathogenic mechanism remains unclear.
|
31253171 |
2019 |
FOXG1 syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
FOXG1 syndrome is caused by FOXG1 intragenic point mutations, or by long-range position effects (LRPE) of intergenic structural variants.
|
29289958 |
2018 |
FOXG1 syndrome
|
0.790 |
Biomarker
|
disease |
BEFREE |
We believe the FOXG1 position effect largely accounts for the clinical phenotype in DGAP294, which can be classified as FOXG1 syndrome like.
|
29321672 |
2018 |
FOXG1 syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
|
28661489 |
2018 |
FOXG1 syndrome
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Emerging Monogenic Complex Hyperkinetic Disorders.
|
29086067 |
2017 |
FOXG1 syndrome
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.
|
28851325 |
2017 |
FOXG1 syndrome
|
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 |
FOXG1 syndrome
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.
|
26344814 |
2016 |
FOXG1 syndrome
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Delineation of the movement disorders associated with FOXG1 mutations.
|
27029630 |
2016 |
FOXG1 syndrome
|
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 |
FOXG1 syndrome
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
De novo mutations in moderate or severe intellectual disability.
|
25356899 |
2014 |
FOXG1 syndrome
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
The usefulness of whole-exome sequencing in routine clinical practice.
|
24901346 |
2014 |
FOXG1 syndrome
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Epilepsy and outcome in FOXG1-related disorders.
|
24836831 |
2014 |
FOXG1 syndrome
|
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 |
FOXG1 syndrome
|
0.790 |
Biomarker
|
disease |
BEFREE |
14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.
|
22968132 |
2013 |
FOXG1 syndrome
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics.
|
22091895 |
2012 |
FOXG1 syndrome
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.
|
22739344 |
2012 |
FOXG1 syndrome
|
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 |
FOXG1 syndrome
|
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 |
FOXG1 syndrome
|
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 |
FOXG1 syndrome
|
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 |
FOXG1 syndrome
|
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 |
FOXG1 syndrome
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.
|
19578037 |
2010 |