(Q34576300)

3 August 2017

title

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

1 reference

3 August 2017

13

Thomy J L de Ravel

2 references

ORCID Public Data File 2021

3 August 2017

Chiara Pantaleoni

17

1 reference

ORCID Public Data File 2021

Pawel Stankiewicz

22

object named as

Pawel Stankiewicz

1 reference

3 August 2017

author name string

Nicola Brunetti-Pierri

1

1 reference

3 August 2017

Alex R Paciorkowski

2

1 reference

3 August 2017

Roberto Ciccone

3

1 reference

3 August 2017

Erika Della Mina

4

1 reference

3 August 2017

Maria Clara Bonaglia

5

1 reference

3 August 2017

Renato Borgatti

6

1 reference

3 August 2017

Christian P Schaaf

7

1 reference

3 August 2017

V Reid Sutton

8

1 reference

3 August 2017

Zhilian Xia

9

1 reference

3 August 2017

Naftha Jelluma

10

1 reference

3 August 2017

Claudia Ruivenkamp

11

1 reference

3 August 2017

Mary Bertrand

12

1 reference

3 August 2017

Parul Jayakar

14

1 reference

3 August 2017

Serena Belli

15

1 reference

3 August 2017

Katia Rocchetti

16

1 reference

3 August 2017

Stefano D'Arrigo

18

1 reference

3 August 2017

Jeff Hughes

19

1 reference

3 August 2017

Sau Wai Cheung

20

1 reference

3 August 2017

Orsetta Zuffardi

21

1 reference

3 August 2017

language of work or name

1 reference

25 August 2010

1 reference

European Journal of Human Genetics

3 August 2017

published in

1 reference

3 August 2017

volume

19

1 reference

3 August 2017

issue

1

1 reference

3 August 2017

page(s)

102-107

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.142

3 August 2017

exact match

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039509

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039509

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039509

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039509

FOXG1 is responsible for the congenital variant of Rett syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039509

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039509

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039509

The story of Rett syndrome: from clinic to neurobiology

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039509

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039509

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039509

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039509

Foxg1 suppresses early cortical cell fate

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039509

Targeting of cre to the Foxg1 (BF-1) locus mediates loxP recombination in the telencephalon and other developing head structures

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039509

PKCu is a novel, atypical member of the protein kinase C family

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039509

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039509

Winged helix transcription factor BF-1 is essential for the development of the cerebral hemispheres

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039509

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

7 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.142

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.142

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.142

Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.142

Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.142

3q29 interstitial microduplication: a new syndrome in a three-generation family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.142

FoxG1 haploinsufficiency results in impaired neurogenesis in the postnatal hippocampus and contextual memory deficits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.142

Excess FoxG1 causes overgrowth of the neural tube

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.142

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.142

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20736978

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.142

1 reference

Dimensions Publication ID

3 August 2017

0 references

1 reference

3 August 2017

1 reference