An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q37704064

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Sleep disordered breathing at the extremes of age: infancy Chemoreception and asphyxia-induced arousal.Physiological effects of obstructive sleep apnea syndrome in childhood Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series Impaired neural structure and function contributing to autonomic symptoms in congenital central hypoventilation syndrome The retrotrapezoid nucleus and breathing Nalcn Is a "Leak" Sodium Channel That Regulates Excitability of Brainstem Chemosensory Neurons and Breathing.Proton detection and breathing regulation by the retrotrapezoid nucleus.Neural Control of Breathing and CO2 Homeostasis.PHYSIOLOGY. Regulation of breathing by CO₂ requires the proton-activated receptor GPR4 in retrotrapezoid nucleus neurons.State-dependent control of breathing by the retrotrapezoid nucleus.Hypoxia silences retrotrapezoid nucleus respiratory chemoreceptors via alkalosis.Regulation of breathing and autonomic outflows by chemoreceptors.C1 neurons: the body's EMTs Pre-Bötzinger complex receives glutamatergic innervation from galaninergic and other retrotrapezoid nucleus neurons.Photostimulation of Phox2b medullary neurons activates cardiorespiratory function in conscious rats.Central respiratory chemoreception.Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulation PhenX measures for phenotyping rare genetic conditions.The cerebral cost of breathing: an FMRI case-study in congenital central hypoventilation syndrome Functional neuroanatomy and sleep-disordered breathing: implications for autonomic regulation.Contributions of PHOX2B in the pathogenesis of Hirschsprung disease Congenital central hypoventilation syndrome with PHOX2B mutation in Saudi Arabia: a- single center experience.Proceedings of the fourth international conference on central hypoventilation.Impaired ventilatory and thermoregulatory responses to hypoxic stress in newborn phox2b heterozygous knock-out mice Abnormal auditory pathways in PHOX2B mutation positive congenital central hypoventilation syndrome.Home mechanical ventilation: a Canadian Thoracic Society clinical practice guideline The retrotrapezoid nucleus neurons expressing Atoh1 and Phox2b are essential for the respiratory response to CO₂ Health-related quality of life in young adults with congenital central hypoventilation syndrome due to PHOX2B mutations: a cross-sectional study.Using non-invasive bi-level positive airway pressure ventilator via tracheostomy in children with congenital central hypoventilation syndrome: two case reports.Novel mutation-deletion in the PHOX2B gene of the patient diagnosed with Neuroblastoma, Hirschsprung's Disease, and Congenital Central Hypoventilation Syndrome (NB-HSCR-CCHS) Cluster.Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours Analysis of Hypoxic and Hypercapnic Ventilatory Response in Healthy Volunteers.Decreased cortical thickness in central hypoventilation syndrome Understanding the rhythm of breathing: so near, yet so far.Diagnostic practices and disease surveillance in Canadian children with congenital central hypoventilation syndrome.Defining Sudden Infant Death and Sudden Intrauterine Unexpected Death Syndromes with Regard to Anatomo-Pathological Examination Inactivity-induced respiratory plasticity: protecting the drive to breathe in disorders that reduce respiratory neural activity Does the supplementary motor area keep patients with Ondine's curse syndrome breathing while awake?A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.

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

http://www.wikidata.org/entity/Q37704064

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on March 2010

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vedecký článok

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vetenskaplig artikel

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An official ATS clinical polic ...... is, diagnosis, and management.

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An official ATS clinical polic ...... is, diagnosis, and management.

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An official ATS clinical polic ...... is, diagnosis, and management.

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An official ATS clinical polic ...... is, diagnosis, and management.

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An official ATS clinical polic ...... is, diagnosis, and management.

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RCCM.200807-1069ST

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American Journal of Respiratory and Critical Care Medicine

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An official ATS clinical polic ...... is, diagnosis, and management.

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ATS Congenital Central Hypoventilation Syndrome Subcommittee

http://www.w3.org/2001/XMLSchema#string

Darius A Loghmanee

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Debra E Weese-Mayer

http://www.w3.org/2001/XMLSchema#string

Elizabeth M Berry-Kravis

http://www.w3.org/2001/XMLSchema#string

Ha Trang

http://www.w3.org/2001/XMLSchema#string

Thomas G Keens

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P2860

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

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

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

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

Molecular analysis of congenital central hypoventilation syndrome

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

Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome

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

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

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

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626-644

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scholarly article

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10.1164/RCCM.200807-1069ST

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P407

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6

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181

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Isabella Ceccherini

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2010-03-01T00:00:00Z

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20208042

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congenital central hypoventilation syndrome