(Q36809678)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22968132%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype (English)

1 reference

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12 February 2020

0 references

0 references

1 reference

11

1 reference

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12 February 2020

author name string

Carolyn J Ellaway

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22968132%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Gladys Ho

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22968132%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Elisa Bettella

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22968132%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Alisa Knapman

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22968132%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Felicity Collins

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22968132%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Anna Hackett

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22968132%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Fiona McKenzie

7

1 reference

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12 February 2020

Artur Darmanian

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22968132%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Gregory B Peters

9

1 reference

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12 February 2020

Kerry Fagan

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22968132%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

publication date

12 September 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22968132%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

12 February 2020

published in

1 reference

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12 February 2020

volume

21

1 reference

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12 February 2020

issue

5

1 reference

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12 February 2020

page(s)

522-527

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22968132%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2012.208

12 February 2020

exact match

0 references

cites work

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1 reference

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

29 September 2017

1 reference

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Regulation of protein kinase D1 activity

29 September 2017

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

29 September 2017

1 reference

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641384

Rett syndrome: revised diagnostic criteria and nomenclature

29 September 2017

1 reference

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641384

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

29 September 2017

1 reference

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641384

FOXG1 is responsible for the congenital variant of Rett syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641384

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641384

Foxg1 is required for specification of ventral telencephalon and region-specific regulation of dorsal telencephalic precursor proliferation and apoptosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641384

Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641384

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

29 September 2017

1 reference

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Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

29 September 2017

1 reference

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PROMO: detection of known transcription regulatory elements using species-tailored searches

29 September 2017

1 reference

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29 September 2017

1 reference

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Dual role of brain factor-1 in regulating growth and patterning of the cerebral hemispheres

29 September 2017

1 reference

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Human brain factor 1, a new member of the fork head gene family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641384

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641384

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

27 June 2018

1 reference

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

27 June 2018

1 reference

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27 June 2018

1 reference

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27 June 2018

1 reference

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

5 September 2018

1 reference

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Emx2 and Foxg1 inhibit gliogenesis and promote neuronogenesis.

5 September 2018

1 reference

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5 September 2018

1 reference

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

5 September 2018

1 reference

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5 September 2018

1 reference

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

5 September 2018

1 reference

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5 September 2018

1 reference

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641384

Application of a time-delay neural network to promoter annotation in the Drosophila melanogaster genome

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641384

Neural network prediction of translation initiation sites in eukaryotes: perspectives for EST and genome analysis.

5 September 2018

1 reference

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

5 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.208

West syndrome associated with 14q12 duplications harboring FOXG1

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22968132

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2012.208

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22968132%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22968132%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

PubMed publication ID

22968132

1 reference