(Q35546503)

8 August 2017

title

Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome (English)

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8 August 2017

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N Van der Aa

1

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8 August 2017

M Van den Bergh

2

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8 August 2017

N Ponomarenko

3

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8 August 2017

L Verstraete

4

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8 August 2017

B Ceulemans

5

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8 August 2017

K Storm

6

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8 August 2017

publication date

9 August 2011

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8 August 2017

published in

Molecular syndromology

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8 August 2017

volume

1

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8 August 2017

issue

6

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8 August 2017

page(s)

290-293

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A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization

8 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214958

Rett syndrome: revised diagnostic criteria and nomenclature

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214958

A FOXG1 mutation in a boy with congenital variant of Rett syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214958

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214958

Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214958

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214958

FOXG1 is responsible for the congenital variant of Rett syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214958

Early progressive encephalopathy in boys and MECP2 mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214958

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214958

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214958

Rett syndrome and the MECP2 gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214958

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214958

On a unusual brain atrophy syndrome in hyperammonemia in childhood

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214958

Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214958

An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22190898

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1159/000330755

1 reference

8 August 2017

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8 August 2017

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