Congenital Central Hypoventilation Syndrome (cchs) - Neonatal Disorders

Relevant Publications

Autism spectrum disorder in young patients with congenital central hypoventilation syndrome: role of the autonomic nervous system dysfunction.

Issue Release: 2024

Maxillary Hypoplasia and Non-Invasive Ventilation: Literature Review and Proposed New Treatment Protocol.

Issue Release: 2024

Congenital Central Hypoventilation Syndrome: A Case Report.

Issue Release: 2024

Higher baseline heart rate variability in CCHS patients with progestin-associated recovery of hypercapnic ventilatory response.

Issue Release: 2024

An unusual ophthalmologic finding in a patient with congenital central hypoventilation syndrome.

Issue Release: 2024

Pulmonary hypertension in an adult patient with congenital central hypoventilation syndrome: a case report.

Issue Release: 2024

The Influence of Neurotrophins on the Brain-Lung Axis: Conception, Pregnancy, and Neonatal Period.

Issue Release: 2024

Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.

Issue Release: 2024

[Study of GCN repeats of PHOX2B gene among individuals from southwest China and diagnosis of two patients with Congenital central hypoventilation syndrome].

Issue Release: 2024

Defective exercise-related expiratory muscle recruitment in patients with PHOX2B mutations: A clue to neural determinants of the congenital central hypoventilation syndrome.

Issue Release: 2024

Airway obstruction in two children with congenital central hypoventilation syndrome and review of the literature.

Issue Release: 2024

Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center.

Issue Release: 2024

Knockdown of PHOX2B in the retrotrapezoid nucleus reduces the central CO chemoreflex in rats.

Issue Release: 2024

Identification of a histone deacetylase inhibitor as a therapeutic candidate for congenital central hypoventilation syndrome.

Issue Release: 2024

Recognition of Hyperinsulinaemic Hypoglycaemia in Infants with Congenital Central Hypoventilation Syndrome.

Issue Release: 2024

Tracheostomy and inpatient outcomes among children with congenital central hypoventilation syndrome: A kids\' inpatient database study.

Issue Release: 2024

Recurrence of CCHS-associated PHOX2B Poly-Alanine expansion variant due to paternal mosaicism.

Issue Release: 2024

PHOX2B: a diagnostic cornerstone in neurocristopathies and neuroblastomas.

Issue Release: 2024

Structural characterization of PHOX2B and its DNA interaction shed light on the molecular basis of the +7Ala variant pathogenicity in CCHS.

Issue Release: 2024

Computer-aided diagnostic screen for Congenital Central Hypoventilation Syndrome with facial phenotype.

Issue Release: 2024

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