(Q43845364)

27 November 2017

title

Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome (English)

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27 November 2017

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E Husu

1

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27 November 2017

H D Hove

2

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27 November 2017

S Farholt

3

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27 November 2017

M Bille

4

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27 November 2017

L Tranebjærg

5

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27 November 2017

I Vogel

6

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27 November 2017

S Kreiborg

7

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27 November 2017

language of work or name

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30 April 2012

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27 November 2017

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27 November 2017

volume

83

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27 November 2017

issue

2

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27 November 2017

page(s)

125-134

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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

27 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

Choanal atresia and associated multiple anomalies

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

Characterization of the CHD family of proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

Chromodomain proteins in development: lessons from CHARGE syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expression

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

CHD7 cooperates with PBAF to control multipotent neural crest formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

CHARGE syndrome: report of 47 cases and review

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

Death in CHARGE syndrome after the neonatal period.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

Ocular features of CHARGE syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

Prevalence and aetiology of congenitally deafblind people in Denmark.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

CHARGE syndrome: an update

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

Executive function in CHARGE syndrome.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

Radial aplasia in CHARGE syndrome: a new association

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

T-cell immunodeficiency in CHARGE syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

CHARGE association: an update and review for the primary pediatrician

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01884.X

10.1111/J.1399-0004.2012.01884.X

21 January 2018

Identifiers

DOI

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27 November 2017

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