(Q37152027)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18449898%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

title

Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18449898%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference

1 reference

2

1 reference

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6 January 2020

Damien Sanlaville

3

1 reference

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6 January 2020

Jeanne Amiel

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18449898%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Stanislas Lyonnet

11

1 reference

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6 January 2020

author name string

C Crétolle

1

1 reference

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6 January 2020

M Zérah

4

1 reference

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6 January 2020

F Jaubert

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18449898%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Y Révillon

7

1 reference

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6 January 2020

L Baala

8

1 reference

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6 January 2020

A Munnich

9

1 reference

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6 January 2020

C Nihoul-Fékété

10

1 reference

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6 January 2020

publication date

1 July 2008

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6 January 2020

1 reference

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6 January 2020

volume

29

1 reference

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6 January 2020

issue

7

1 reference

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6 January 2020

page(s)

903-910

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18449898%20AND%20SRC:MED&resulttype=core&format=json

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

6 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Hereditary presacral teratoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Involvement of the HLXB9 homeobox gene in Currarino syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

New clinical and therapeutic perspectives in Currarino syndrome (study of 29 cases)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Triad of anorectal, sacral, and presacral anomalies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

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/10.1002%2FHUMU.20718

7 January 2021

Missense mutations of human homeoboxes: A review

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

The sequence specificity of homeodomain-DNA interaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Functional dissection of a transcriptionally active, target-specific Hox-Pbx complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Homeodomain Proteins: What Governs Their Ability to Recognize Specific DNA Sequences?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Population Differences in the Polyalanine Domain and 6 New Mutations in HLXB9 in Patients with Currarino Syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

An unusual case of the complete Currarino triad: case report, discussion of the literature and the embryogenic implications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Homeodomain-DNA recognition

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Is it more than just constipation?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Lumbosacral agenesis: clinical characteristics, imaging, and embryogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Diagnostic steps and staged operative approach in Currarino's triad: a case report and review of the literature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Hereditary sacral agenesis associated with presacral tumours

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

The Currarino triad: complex of anorectal malformation, sacral bony abnormality, and presacral mass

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

The Currarino syndrome--hereditary transmitted syndrome of anorectal, sacral and presacral anomalies. Case report and review of the literature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Localization of HB9 homeodomain protein and characterization of its nuclear localization signal during chick embryonic skin development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Currarino triad: anorectal malformation, sacral bony abnormality, and presacral mass--a review of 11 cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Synchronization of neurogenesis and motor neuron specification by direct coupling of bHLH and homeodomain transcription factors.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Analysis of embryonic motoneuron gene regulation: derepression of general activators function in concert with enhancer factors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Clinical features and HLXB9 gene mutation of a sporadic Chinese Currarino's syndrome case

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Autosomal dominant sacral agenesis: Currarino syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Presacral meningocele associated with hereditary sacral agenesis and treated surgically: evaluation in three members of the same family.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Currarino syndrome: proposal of a diagnostic and therapeutic protocol

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

HLXB9 homeobox gene and caudal regression syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Identification of a conserved 125 base-pair Hb9 enhancer that specifies gene expression to spinal motor neurons.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Sequence features of DNA binding sites reveal structural class of associated transcription factor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Incomplete Currarino syndrome with a presacral leiomyosarcoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Hereditary sacral agenesis with presacral mass and anorectal stenosis: the Currarino triad

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Splicing of messenger RNA precursors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Sacral agenesis and caudal spinal cord malformations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Dorsal-ventral patterning during neural induction in Xenopus: assessment of spinal cord regionalization with xHB9, a marker for the motor neuron region

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Familial Currarino syndrome presenting with peripheral primitive neuroectodermal tumour arising with a sacral teratoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

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/10.1002%2FHUMU.20718

7 January 2021

A case of incomplete Currarino triad with malignant transformation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Malignant degeneration of presacral teratoma in the Currarino anomaly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

A previously unreported mutation in a Currarino syndrome kindred

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Conservation and diversification in homeodomain-DNA interactions: a comparative genetic analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021

Anterior sacral defects: an autosomal dominantly inherited condition

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20718

7 January 2021