(Q54032875)

23 May 2018

title

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

1 reference

23 May 2018

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1 reference

Hussam Al-Kateb

1

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23 May 2018

Joshua S Shimony

2

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23 May 2018

Marisa Vineyard

3

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23 May 2018

Linda Manwaring

4

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23 May 2018

Shashikant Kulkarni

5

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23 May 2018

Marwan Shinawi

6

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23 May 2018

language of work or name

English

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publication date

8 January 2013

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23 May 2018

American Journal of Medical Genetics

published in

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23 May 2018

volume

161A

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23 May 2018

issue

2

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23 May 2018

page(s)

377-381

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23 May 2018

COUP-TFI is required for the formation of commissural projections in the forebrain by regulating axonal growth

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35650

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35650

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35650

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35650

Structural variation and its effect on expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35650

Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35650

Reduced fertility in mice deficient for the POU protein sperm-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35650

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35650

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35650

Area-specific temporal control of corticospinal motor neuron differentiation by COUP-TFI

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35650

Chick ovalbumin upstream promoter-transcription factors (COUP-TFs): coming of age

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35650

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35650

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.35650

1 reference

23 May 2018

1 reference

23 May 2018