(Q37592273)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

title

NR2F1 mutations cause optic atrophy with intellectual disability (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

0 references

1 reference

Claudia Gonzaga-Jauregui

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Joep de Ligt

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Lisenka Vissers

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Huda Zoghbi

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

20

James R Lupski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

17

Sophia Y Tsai

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

19

Ming-Jer Tsai

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

18

Richard A Gibbs

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

8

Donna M Muzny

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

9

Helger G Yntema

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

23

Bert B A de Vries

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

2

F Nienke Boonstra

1 reference

6 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6

Shalini Jhangiani

1 reference

6 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

Baylor-Hopkins Center for Mendelian Genomics

15

object named as

Baylor-Hopkins Center for Mendelian Genomics

1 reference

6 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

Daniëlle G M Bosch

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Mafei Xu

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Wojciech Wiszniewski

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Rolph Pfundt

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Liesbeth Spruijt

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Ellen A W Blokland

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Chun-An Chen

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Richard A Lewis

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Frans P M Cremers

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Christian P Schaaf

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

language of work or name

English

0 references

publication date

23 January 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

6 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

volume

94

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

page(s)

303-309

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly

6 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Whole-genome sequencing for optimized patient management

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Variation in genome-wide mutation rates within and between human families

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Coup d'Etat: an orphan takes control.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

COUP-TFs regulate eye development by controlling factors essential for optic vesicle morphogenesis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

A SNP discovery method to assess variant allele probability from next-generation resequencing data

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

The Sequence Alignment/Map format and SAMtools

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

COUP-TFI coordinates cortical patterning, neurogenesis, and laminar fate and modulates MAPK/ERK, AKT, and beta-catenin signaling.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

COUP-TFI regulates the balance of cortical patterning between frontal/motor and sensory areas

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Optic disc morphology may reveal timing of insult in children with periventricular leucomalacia and/or periventricular haemorrhage

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve Malformations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Cerebral visual impairment in children

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

COUP-TFI: an intrinsic factor for early regionalization of the neocortex

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Periventricular leukomalacia: an important cause of visual and ocular motility dysfunction in children.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Chronic cortical visual impairment in children: aetiology, prognosis, and associated neurological deficits

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Null mutation of mCOUP-TFI results in defects in morphogenesis of the glossopharyngeal ganglion, axonal projection, and arborization.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Spatiotemporal expression patterns of chicken ovalbumin upstream promoter-transcription factors in the developing mouse central nervous system: evidence for a role in segmental patterning of the diencephalon

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Identification of two factors required for transcription of the ovalbumin gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

COUP-TF upregulates NGFI-A gene expression through an Sp1 binding site.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Large cups in normal-sized optic discs: a variant of optic nerve hypoplasia in children with periventricular leukomalacia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Diagnostic exome sequencing in persons with severe intellectual disability

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Changes in causes of low vision between 1988 and 2009 in a Dutch population of children

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

A de novo paradigm for mental retardation.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

The spatial patterning of mouse cone opsin expression is regulated by bone morphogenetic protein signaling through downstream effector COUP-TF nuclear receptors

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Spectrum of visual disorders in children with cerebral visual impairment

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Cortical visual impairment: etiology, associated findings, and prognosis in a tertiary care setting

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Changes in the optic disc excavation of children affected by cerebral visual impairment: a tomographic analysis

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

The nuclear orphan receptor COUP-TFI is important for differentiation of oligodendrocytes.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Severe visual impairment and blindness in children in the UK.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928641

Transsynaptic degeneration of lateral geniculate bodies in blind children: in vivo MR demonstration

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24462372

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Orphan receptor COUP-TF I antagonizes retinoic acid-induced neuronal differentiation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24462372

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The nuclear orphan receptor COUP-TFI is required for differentiation of subplate neurons and guidance of thalamocortical axons

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24462372

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2014.01.002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

PubMed publication ID

24462372

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24462372%20AND%20SRC:MED&resulttype=core&format=json