Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation (Q37683245)

22 August 2017

1 reference

title

Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation (English)

1 reference

22 August 2017

Michael S Carroll

1

1 reference

22 August 2017

Pallavi P Patwari

series ordinal

2

1 reference

22 August 2017

Debra E Weese-Mayer

series ordinal

3

1 reference

22 August 2017

language of work or name

English

0 references

publication date

28 January 2010

1 reference

Journal of Applied Physiology

22 August 2017

1 reference

22 August 2017

108

1 reference

22 August 2017

4

1 reference

22 August 2017

979-988

1 reference

Photostimulation of retrotrapezoid nucleus phox2b-expressing neurons in vivo produces long-lasting activation of breathing in rats

22 August 2017

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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/10.1152%2FJAPPLPHYSIOL.00004.2010

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/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Central hypoventilation with PHOX2B expansion mutation presenting in adulthood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor syndrome in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Diaphragm pacers as a treatment for congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Neurotrophic factor expression in three infants with Ondine's curse

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Congenital central hypoventilation syndrome and Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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/10.1152%2FJAPPLPHYSIOL.00004.2010

Effect of naloxone in a previously undescribed hypothalamic syndrome. A disorder of the endogenous opioid peptide system?

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Abnormal esophageal motility in children with congenital central hypoventilation syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Cor pulmonale due to congenital central hypoventilation syndrome presenting in adolescence

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

PRIMARY ALVEOLAR HYPOVENTILATION SYNDROME (ONDINE'S CURSE).

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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/10.1152%2FJAPPLPHYSIOL.00004.2010

Peripheral chemoreceptor function in children with the congenital central hypoventilation syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

The retrotrapezoid nucleus and central chemoreception

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Effect of sleep stage on breathing in children with central hypoventilation

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Neuroanatomic deficits in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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/10.1152%2FJAPPLPHYSIOL.00004.2010

fMRI signal changes in response to forced expiratory loading in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Global BOLD MRI changes to ventilatory challenges in congenital central hypoventilation syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Aberrant neural responses to cold pressor challenges in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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/10.1152%2FJAPPLPHYSIOL.00004.2010

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/10.1152%2FJAPPLPHYSIOL.00004.2010

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/10.1152%2FJAPPLPHYSIOL.00004.2010

Periodic apnea, exercise hypoventilation, and hypothalamic dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Hirschsprung's disease associated with Ondine's curse: a special subgroup?

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Idiopathic hypothalamic dysfunction with dilated unresponsive pupils: report of two cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Phox2b, RTN/pFRG neurons and respiratory rhythmogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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/10.1152%2FJAPPLPHYSIOL.00004.2010

Idiopathic hypothalamic dysfunction: a paraneoplastic syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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/10.1152%2FJAPPLPHYSIOL.00004.2010

Ventilatory response to exercise in children with congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Anxiety and congenital central hypoventilation syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Hypothalamic dysfunction in a child: a distinct syndrome? Report of a case and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Prevalence and functional consequence of PHOX2B mutations in neuroblastoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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/10.1152%2FJAPPLPHYSIOL.00004.2010

Molecular analysis of congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Ventilatory responses to exercise in humans lacking ventilatory chemosensitivity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Respiratory sensations during heavy exercise in subjects without respiratory chemosensitivity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Expression of Phox2b by brainstem neurons involved in chemosensory integration in the adult rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Selective lesion of retrotrapezoid Phox2b-expressing neurons raises the apnoeic threshold in rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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/10.1152%2FJAPPLPHYSIOL.00004.2010

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/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

The Phox2B homeobox gene is mutated in sporadic neuroblastomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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/10.1152%2FJAPPLPHYSIOL.00004.2010

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/10.1152%2FJAPPLPHYSIOL.00004.2010

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/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FJAPPLPHYSIOL.00004.2010

10.1152/JAPPLPHYSIOL.00004.2010

21 January 2018

Identifiers

DOI

1 reference

22 August 2017

1 reference