(Q48448556)

11 February 2018

title

PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome (English)

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11 February 2018

author

Delphine Trochet

1

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11 February 2018

Stanislas Lyonnet

8

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11 February 2018

Jeanne Amiel

10

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11 February 2018

David Gozal

4

object named as

David Gozal

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11 February 2018

7

Arnold Munnich

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11 February 2018

Loïc de Pontual

2

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11 February 2018

Christian Straus

3

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11 February 2018

Ha Trang

5

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11 February 2018

Pierre Landrieu

6

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11 February 2018

Claude Gaultier

9

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11 February 2018

language of work or name

English

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publication date

13 December 2007

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11 February 2018

American Journal of Respiratory and Critical Care Medicine

published in

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11 February 2018

volume

177

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11 February 2018

issue

8

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11 February 2018

page(s)

906-911

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11 February 2018

Congenital central hypoventilation syndrome and Hirschsprung's disease

cites work

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200707-1079OC

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200707-1079OC

Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200707-1079OC

Late-onset central hypoventilation with hypothalamic dysfunction: a distinct clinical syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200707-1079OC

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200707-1079OC

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/10.1164%2FRCCM.200707-1079OC

Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200707-1079OC

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/10.1164%2FRCCM.200707-1079OC

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200707-1079OC

PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200707-1079OC

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200707-1079OC

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/10.1164%2FRCCM.200707-1079OC

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200707-1079OC

Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200707-1079OC

Hsp90 as a capacitor for morphological evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200707-1079OC

Central nervous system distribution of the transcription factor Phox2b in the adult rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200707-1079OC

Molecular analysis of congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200707-1079OC

Germline PHOX2B mutation in hereditary neuroblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200707-1079OC

Phox2B mutations and the Delta-Notch pathway in neuroblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200707-1079OC

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200707-1079OC

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200707-1079OC

Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200707-1079OC

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200707-1079OC

Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200707-1079OC

10.1164/RCCM.200707-1079OC

21 January 2018

Identifiers

DOI

1 reference

11 February 2018

release_hh4qcbtqjnfqtlauuq2dqsha3q

Fatcat ID

0 references

1 reference

11 February 2018