(Q28251570)

1

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Ha Trang

2

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Stéphane Dauger

3

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Jorge Gallego

Hirschsprung disease, associated syndromes, and genetics: a review

4

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language of work or name

English

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publication date

July 2005

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published in

Pediatric Research

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volume

58

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issue

1

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page(s)

1-6

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cites work

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Congenital central hypoventilation syndrome associated with Hirschsprung's disease and neuroblastoma: case of multiple neurocristopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Congenital central hypoventilation syndrome: an update.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Specification of the central noradrenergic phenotype by the homeobox gene Phox2b.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Molecular analysis of congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Germline PHOX2B mutation in hereditary neuroblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Association study of PHOX2B as a candidate gene for Hirschsprung's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

PMX2B, a new candidate gene for Hirschsprung's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Phox2b controls the development of peripheral chemoreceptors and afferent visceral pathways.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Specification of catecholaminergic and serotonergic neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Interaction of Mash1 and Phox2b in sympathetic neuron development

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Specification of neurotransmitter identity by Phox2 proteins in neural crest stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Mammalian achaete-scute homolog 1 is required for the early development of olfactory and autonomic neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Essential role of Gata transcription factors in sympathetic neuron development

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Molecular control of ciliary neuron development: BMPs and downstream transcriptional control in the parasympathetic lineage.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Coordinated temporal and spatial control of motor neuron and serotonergic neuron generation from a common pool of CNS progenitors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Ascl1/Mash1 is required for the development of central serotonergic neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

24-hour BP in children with congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Temporal trends of cardiac and respiratory responses to ventilatory challenges in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Mother-daughter transmission of congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Idiopathic congenital central hypoventilation syndrome: the next generation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Genomic structure and functional characterization of NBPhox (PMX2B), a homeodomain protein specific to catecholaminergic cells that is involved in second messenger-mediated transcriptional activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

PHOX2B gene mutation in a patient with late-onset central hypoventilation

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Polyalanine expansions in human

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Hypoxia reveals posterior thalamic, cerebellar, midbrain, and limbic deficits in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Hypercapnic exposure in congenital central hypoventilation syndrome reveals CNS respiratory control mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Sleep influences on homeostatic functions: implications for sudden infant death syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Medullary serotonergic network deficiency in the sudden infant death syndrome: review of a 15-year study of a single dataset

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Congenital central hypoventilation syndrome: inheritance and relation to sudden infant death syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000166755.29277.C4

10.1203/01.PDR.0000166755.29277.C4

21 January 2018

Identifiers

DOI

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Dimensions Publication ID

1011429258

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Fatcat ID

release_3tirdha52jhodikfgkrpirp7ry

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3tirdha52jhodikfgkrpirp7ry