(Q34088714)

30 July 2017

title

Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome (English)

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30 July 2017

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Köchling J

1

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30 July 2017

Karbasiyan M

series ordinal

2

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30 July 2017

Reis A

series ordinal

3

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30 July 2017

publication date

1 August 2001

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European Journal of Human Genetics

30 July 2017

published in

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30 July 2017

volume

9

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30 July 2017

issue

8

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30 July 2017

page(s)

599-605

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Triad of anorectal, sacral, and presacral anomalies

30 July 2017

cites work

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200683

7 January 2021

A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200683

7 January 2021

A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200683

7 January 2021

Human DNA sequences homologous to a protein coding region conserved between homeotic genes of Drosophila

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200683

7 January 2021

Interspecies exchange of a Hoxd enhancer in vivo induces premature transcription and anterior shift of the sacrum

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200683

7 January 2021

Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200683

7 January 2021

Requirement for the homeobox gene Hb9 in the consolidation of motor neuron identity

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200683

7 January 2021

Autosomal dominant sacral agenesis: Currarino syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200683

7 January 2021

Currarino triad (anorectal malformation, sacral bony abnormality and presacral mass) with partial trisomy of chromosomes 13q and 20p

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200683

7 January 2021

The sequence specificity of homeodomain-DNA interaction

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200683

7 January 2021

A single amino acid can determine the DNA binding specificity of homeodomain proteins.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200683

7 January 2021

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200683

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7 January 2021

Identification of a nuclear localization signal, RRMKWKK, in the homeodomain transcription factor PDX-1

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200683

7 January 2021

Involvement of the HLXB9 homeobox gene in Currarino syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200683

7 January 2021

The nuclear localization signal (NLS) of PDX-1 is part of the homeodomain and represents a novel type of NLS.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200683

7 January 2021

Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200683

7 January 2021

Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200683

7 January 2021

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200683

7 January 2021

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200683

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200683

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30 July 2017

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