(Q48497800)

12 February 2018

title

Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome (English)

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12 February 2018

congenital central hypoventilation syndrome

main subject

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Valeria Capra

6

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Isabella Ceccherini

object named as

Isabella Ceccherini

9

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Andrea Rossi

object named as

Andrea Rossi

8

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author name string

Tiziana Bachetti

1

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12 February 2018

Angela Robbiano

2

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12 February 2018

Sara Parodi

3

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12 February 2018

Ivana Matera

4

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12 February 2018

Elisa Merello

5

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12 February 2018

Maria Pia Baglietto

7

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12 February 2018

Giancarlo Ottonello

10

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12 February 2018

language of work or name

English

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publication date

8 June 2006

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12 February 2018

American Journal of Respiratory and Critical Care Medicine

published in

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12 February 2018

volume

174

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12 February 2018

issue

6

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12 February 2018

page(s)

706-709

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12 February 2018

Congenital central hypoventilation syndrome. A report of successful experience with bilateral diaphragmatic pacing

cites work

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200602-266CR

Congenital central hypoventilation syndrome: diagnosis, management, and long-term outcome in thirty-two children

21 January 2018

1 reference

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Congenital central hypoventilation syndrome associated with multiple ganglioneuromas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200602-266CR

Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200602-266CR

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.200602-266CR

Molecular analysis of congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200602-266CR

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.200602-266CR

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.200602-266CR

Sleep-disordered breathing in newborn mice heterozygous for the transcription factor Phox2b.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200602-266CR

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.200602-266CR

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.200602-266CR

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

21 January 2018

1 reference

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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

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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.200602-266CR

Abnormal ventilatory patterns during sleep in infants with myelomeningocele

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200602-266CR

Association between schizophrenia with ocular misalignment and polyalanine length variation in PMX2B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200602-266CR

Neuroanatomic deficits in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200602-266CR

Phox2 genes - from patterning to connectivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200602-266CR

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

21 January 2018

1 reference

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10.1164/RCCM.200602-266CR

21 January 2018

Identifiers

DOI

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12 February 2018

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12 February 2018