(Q36404068)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22739344%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

title

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements (English)

1 reference

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6 February 2020

8

1 reference

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6 February 2020

5

Patrick Edery

1 reference

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6 February 2020

author name string

Lila Allou

1

1 reference

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6 February 2020

Laetitia Lambert

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22739344%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Daniel Amsallem

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22739344%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Eric Bieth

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22739344%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Anne Destrée

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22739344%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

François Rivier

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22739344%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Elizabeth Thompson

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22739344%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Julian Nicholl

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22739344%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Michael Harbord

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22739344%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Christophe Nemos

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22739344%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Aline Saunier

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22739344%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Aissa Moustaïne

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22739344%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Adeline Vigouroux

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22739344%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Philippe Jonveaux

16

1 reference

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6 February 2020

Christophe Philippe

17

1 reference

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6 February 2020

publication date

27 June 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22739344%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

6 February 2020

published in

1 reference

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6 February 2020

volume

20

1 reference

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6 February 2020

issue

12

1 reference

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6 February 2020

page(s)

1216-1223

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22739344%20AND%20SRC:MED&resulttype=core&format=json

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

6 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

Increased phosphorylation-dependent nuclear export of class II histone deacetylases in failing human heart

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

Induced overexpression of protein kinase D1 stimulates mitogenic signaling in human pancreatic carcinoma PANC-1 cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

Protein kinase D controls the integrity of Golgi apparatus and the maintenance of dendritic arborization in hippocampal neurons

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

FOXG1 is responsible for the congenital variant of Rett syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

Rett syndrome: new clinical and molecular insights.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

Questionable pathogenicity of FOXG1 duplication.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

Deleterious mutations in exon 1 of MECP2 in Rett syndrome

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3499785

Protein kinase D directly phosphorylates histone deacetylase 5 via a random sequential kinetic mechanism

21 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.127

West syndrome associated with mosaic duplication ofFOXG1in a patient with maternal uniparental disomy of chromosome 14

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.127

[FOXG1, a new gene responsible for the congenital form of Rett syndrome]

21 January 2018

1 reference

12 December 2020

West syndrome associated with 14q12 duplications harboring FOXG1

1 reference

12 December 2020

Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics

1 reference

12 December 2020

Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation

1 reference

12 December 2020

https://api.crossref.org/works/10.1038%2FEJHG.2012.127

1 reference

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2012.127

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22739344%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22739344%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

PubMed publication ID

22739344

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22739344%20AND%20SRC:MED&resulttype=core&format=json