An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management (Q37704064)

22 August 2017

An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management (English)

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congenital central hypoventilation syndrome

22 August 2017

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Isabella Ceccherini

3

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author name string

Debra E Weese-Mayer

1

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22 August 2017

Elizabeth M Berry-Kravis

2

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22 August 2017

Thomas G Keens

4

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22 August 2017

Darius A Loghmanee

5

1 reference

22 August 2017

Ha Trang

6

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22 August 2017

ATS Congenital Central Hypoventilation Syndrome Subcommittee

7

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22 August 2017

language of work or name

English

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publication date

1 March 2010

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American Journal of Respiratory and Critical Care Medicine

22 August 2017

19

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published in

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22 August 2017

181

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22 August 2017

626-644

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22 August 2017

6

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

22 August 2017

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Molecular analysis of congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

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.200807-1069ST

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.200807-1069ST

Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

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.200807-1069ST

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

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.200807-1069ST

PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Late-onset central hypoventilation syndrome: a family genetic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Central hypoventilation with PHOX2B expansion mutation presenting in adulthood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

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.200807-1069ST

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.200807-1069ST

Prevalence and functional consequence of PHOX2B mutations in neuroblastoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

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/10.1164%2FRCCM.200807-1069ST

Abnormal esophageal motility in children with congenital central hypoventilation syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Congenital central hypoventilation syndrome: cardiorespiratory responses to moderate exercise, simulating daily activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Ventilatory response to exercise in children with congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Effect of mental activity on breathing in congenital central hypoventilation syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Respiratory sensations during heavy exercise in subjects without respiratory chemosensitivity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Respiratory sensations in subjects who lack a ventilatory response to CO2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Short-term blood pressure and heart rate variability in congenital central hypoventilation syndrome (Ondine's curse).

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Ventilatory responses to exercise in humans lacking ventilatory chemosensitivity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Autonomic function in children with congenital central hypoventilation syndrome and their families

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Congenital central hypoventilation syndrome in monozygotic twins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

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.200807-1069ST

Idiopathic congenital central hypoventilation syndrome: the next generation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Mother-daughter transmission of congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Mutations of the RET-GDNF signaling pathway in Ondine's curse

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Point mutation in exon 12 of the receptor tyrosine kinase proto-oncogene RET in Ondine-Hirschsprung syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Congenital central hypoventilation syndrome associated with Hirschsprung's disease: mutation analysis of the RET and endothelin-signaling pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

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.200807-1069ST

Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

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/10.1164%2FRCCM.200807-1069ST

Exclusion ofRNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse)

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Mutational analysis of the RNX gene in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

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.200807-1069ST

Sensitive detection of polyalanine expansions in PHOX2B by polymerase chain reaction using bisulfite-converted DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

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.200807-1069ST

Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Unequal crossover recombination - population screening for PHOX2B gene polyalanine polymorphism using CE.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Congenital central hypoventilation syndrome with PHOX2B gene mutation in a Taiwanese infant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Compound effect ofPHOX2BandRETgene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

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.200807-1069ST

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

A novel missense mutation in the PHOX2B gene is associated with late onset central hypoventilation syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Anesthetic implications of undiagnosed late onset central hypoventilation syndrome in a child: from elective tonsillectomy to tracheostomy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

PRIMARY ALVEOLAR HYPOVENTILATION SYNDROME (ONDINE'S CURSE).

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Polyalanine expansions in human

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Polyalanine expansions might not result from unequal crossing-over

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

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.200807-1069ST

Magnetic resonance imaging and computerized tomography in central hypoventilation

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Heart rate variability in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Cardiac rhythm disturbances among children with idiopathic congenital central hypoventilation syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Structural and functional remodeling of the left atrium: clinical and therapeutic implications for atrial fibrillation

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Medical and psychosocial outcome of children with congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Neuropsychologic abnormalities in children with congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Congenital central hypoventilation syndrome: neurocognitive functioning in school age children

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Effect of sleep stage on breathing in children with central hypoventilation

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Hypoxic and hypercapnic ventilatory responses in awake children with congenital central hypoventilation syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Ventilatory responses to passive leg motion in children with congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Passive motion of the extremities modifies alveolar ventilation during sleep in patients with congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

FMRI responses to hyperoxia in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Diffusion tensor imaging demonstrates brainstem and cerebellar abnormalities in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Long-term noninvasive mechanical ventilation for children at home: a national survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Outcome of paediatric domiciliary mask ventilation in neuromuscular and skeletal disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Non-invasive positive pressure ventilation: current status in paediatric patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Noninvasive ventilatory strategies in the management of a newborn infant and three children with congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Negative extrathoracic pressure ventilation in central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Diaphragm pacing in infants and children

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Diaphragm pacing with a quadripolar phrenic nerve electrode: an international study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Diaphragm pacing in infants and children. A life-table analysis of implanted components.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Diaphragm pacers as a treatment for congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Diaphragm pacing by electrical stimulation of the phrenic nerve

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Fundamental considerations in pacing of the diaphragm for chronic ventilatory insufficiency: a multi-center study

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Diaphragm pacing in infants and children

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Thoracoscopic placement of phrenic nerve electrodes for diaphragmatic pacing in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Absence of device-device interaction (DDI) in a patient with cardiac and diaphragmatic pacemakers for congenital central hypoventilation syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Cardiac pacing in a patient with diaphragm pacing for congenital central hypoventilation syndrome (Ondine's curse).

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Comparison of transthoracic impedance/heart rate monitoring and pulse oximetry for patients using diaphragm pacemakers

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Hypoventilation and apnea in children during mechanically assisted ventilation

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Alcohol use in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

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.200807-1069ST

Pediatric autonomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

Congenital central hypoventilation syndrome:PHOX2B genotype determines risk for sudden death

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200807-1069ST

10.1164/RCCM.200807-1069ST

21 January 2018

Identifiers

DOI

1 reference

22 August 2017

1 reference