Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.
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Extreme intra-familial variability of congenital central hypoventilation syndrome: a case seriesRegulation of breathing and autonomic outflows by chemoreceptors.The respiratory chemoreception conundrum: light at the end of the tunnel?Retrotrapezoid nucleus and parafacial respiratory group.Central autonomic regulation in congenital central hypoventilation syndromeCongenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulationPresentation and treatment of monozygotic twins with congenital central hypoventilation syndrome.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.A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation.An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature.Pediatric autonomic testing: retrospective review of a large series.Genetic diseases: congenital central hypoventilation, Rett, and Prader-Willi syndromes.Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review.Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives.Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation.Haddad syndrome novel association with BRAF mutation.Congenital central hypoventilation syndrome: A pictorial demonstration of absent electrical diaphragmatic activity using non-invasive neurally adjusted ventilatory assist.Neurodevelopmental Effects of Serotonin on the Brainstem Respiratory Network.Heterozygous 24-polyalanine repeats in the PHOX2B gene with different manifestations across three generations.Ethical considerations with the management of congenital central hypoventilation syndrome.A reliable prognosis for congenital central hypoventilation syndrome should reflect a patient's genetic profile and management history.The paired-like homeobox 2B (PHOX2B) gene and respiratory control.Conscious sedation with dexmedetomidine for implantation of a phrenic nerve stimulator in a pediatric case of late-onset congenital central hypoventilation syndromeCongenital Central Hypoventilation Syndrome: A Comprehensive Review and Future ChallengesInternational Classification of Functioning, Disability and Health in children with congenital central hypoventilation syndrome
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P2860
Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on June 2009
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Congenital central hypoventila ...... ansitional autonomic medicine.
@en
Congenital central hypoventila ...... ansitional autonomic medicine.
@nl
type
label
Congenital central hypoventila ...... ansitional autonomic medicine.
@en
Congenital central hypoventila ...... ansitional autonomic medicine.
@nl
prefLabel
Congenital central hypoventila ...... ansitional autonomic medicine.
@en
Congenital central hypoventila ...... ansitional autonomic medicine.
@nl
P2093
P2860
P356
P1476
Congenital central hypoventila ...... ansitional autonomic medicine.
@en
P2093
Casey M Rand
Darius A Loghmanee
Debra E Weese-Mayer
Elizabeth M Berry-Kravis
Larry J Jennings
Pallavi P Patwari
P2860
P304
P356
10.1002/PPUL.21045
P577
2009-06-01T00:00:00Z