| Item Type | Name |
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Concept
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Obesity Hypoventilation Syndrome
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Concept
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Hypoventilation
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Academic Article
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Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.
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Academic Article
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Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology.
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Academic Article
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Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome.
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Academic Article
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Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death.
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Academic Article
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Congenital central hypoventilation syndrome: neurocognitive functioning in school age children.
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Academic Article
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Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children.
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Academic Article
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Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD.
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Academic Article
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Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
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Academic Article
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A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease.
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Academic Article
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Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?
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Academic Article
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Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).
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Academic Article
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Variable human phenotype associated with novel deletions of the PHOX2B gene.
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Academic Article
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Monozygotic twins discordant for ROHHAD phenotype.
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Academic Article
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Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes.
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Academic Article
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Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers.
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Academic Article
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[ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management].
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Academic Article
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An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.
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Academic Article
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Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.
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Academic Article
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Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene.
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Academic Article
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Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation.
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Academic Article
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Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood.
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Academic Article
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Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome.
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Academic Article
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Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
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Academic Article
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PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood.
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Academic Article
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In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.
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Academic Article
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Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS.
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Academic Article
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Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease.
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Academic Article
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Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members.
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Academic Article
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Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).
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