Disease: Congenital central hypoventilation syndrome
- <em>Phox2b</em> mutation mediated by <em>Atoh1</em> expression impaired respiratory rhythm and ventilatory responses to hypoxia and hypercapnia
- <em>phox2ba:</em> The Potential Genetic Link behind the Overlap in the Symptomatology between CHARGE and Central Congenital Hypoventilation Syndromes
- A Deeper Curse: A Hirschsprung Patient's Evaluation Unmasks a Rare Association with Congenital Central Hypoventilation Syndrome and Neuroblastoma
- A late presentation of <em>TPM3</em> myopathy presenting as sleep hypoventilation in the setting of acute demyelinating encephalomyelitis
- A Newborn Infant with Congenital Central Hypoventilation Syndrome and Pupillary Abnormalities: A Literature Review
- A novel case of central hypoventilation syndrome or just heavy breathing?
- Airway obstruction in two children with congenital central hypoventilation syndrome and review of the literature
- Alternative low-populated conformations prompt phase transitions in polyalanine repeat expansions
- An unusual ophthalmologic finding in a patient with congenital central hypoventilation syndrome
- Analysis and comparisons of gene expression changes in patient- derived neurons from ROHHAD, CCHS, and PWS
- Apparently rare cases are worth studying because…
- Autism spectrum disorder in young patients with congenital central hypoventilation syndrome: role of the autonomic nervous system dysfunction
- Caffeine Use in the Anesthetic Management of a Patient With Congenital Central Hypoventilation
- Can Physiologic Biomarkers Predict Neurocognition in Congenital Central Hypoventilation Syndrome?
- Carotid Body Dysfunction and Mechanisms of Disease
- Case Report: A novel <em>PHOX2B</em> p.Ala248_Ala266dup variant causing congenital central hypoventilation syndrome
- Case Report: A novel PHOX2B p.Ala248_Ala266dup variant causing congenital central hypoventilation syndrome
- Central CO(2) chemosensitivity and CO(2) controller gain independently contribute to daytime Pco(2) in young subjects with congenital central hypoventilation syndrome
- Central CO<sub>2</sub> chemosensitivity and CO<sub>2</sub> controller gain independently contribute to daytime Pco<sub>2</sub> in young subjects with congenital central hypoventilation syndrome
- Central respiratory chemoreception
- Characteristics and outcomes in children with congenital central hypoventilation syndrome on long-term mechanical ventilation in the Netherlands
- Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap
- Clinical Features of COVID-19 in Patients with Congenital Central Hypoventilation Syndrome
- Computer-aided diagnostic screen for Congenital Central Hypoventilation Syndrome with facial phenotype
- Congenital Central Hypoventilation Syndrome and Disorders of Control of Ventilation
- Congenital central hypoventilation syndrome in children: a Hong Kong perspective
- Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature
- Congenital Central Hypoventilation Syndrome in Israel-Novel Findings from a New National Center
- Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center
- Congenital central hypoventilation syndrome without hypoventilation: is it congenital central hypoventilation syndrome?
- Congenital Central Hypoventilation Syndrome: A Case Report
- Congenital Central Hypoventilation Syndrome: Diagnosis and Long-Term Ventilatory Outcomes
- Congenital Central Hypoventilation Syndrome: neonatal diagnosis and management
- Congenital Central Hypoventilation Syndrome: Optimizing Care with a Multidisciplinary Approach
- Congenital Central Hypoventilation Syndrome: The Singularity of A Successful Case
- Construction of Carboxymethyl Chitosan Hydrogel with Multiple Cross-linking Networks for Electronic Devices at Low Temperature
- Control of Breathing and Central Hypoventilation Syndromes
- Decannulation in congenital central hypoventilation syndrome
- Defective exercise-related expiratory muscle recruitment in patients with PHOX2B mutations: A clue to neural determinants of the congenital central hypoventilation syndrome
- Developmental disorders affecting the respiratory system: CCHS and ROHHAD
- Disease-associated polyalanine expansion mutations impair UBA6-dependent ubiquitination
- Dyspnea in young subjects with congenital central hypoventilation syndrome
- Education program for caregivers in congenital central hypoventilation syndrome: Initiation and experience families
- Effect of Facemask in Congenital Central Hypoventilation Syndrome
- Elevated transaminases in congenital central hypoventilation syndrome
- Etonogestrel Administration Reduces the Expression of PHOX2B and Its Target Genes in the Solitary Tract Nucleus
- Exploring the brain with sleep-related injuries, and fixing it
- Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene
- Gender differences in obesity hypoventilation syndrome
- Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene
- Genetic identification of medullary neurons underlying congenital hypoventilation
- Heart rate variability in congenital central hypoventilation syndrome: relationships with hypertension and sinus pauses
- HIDEA syndrome: A rare cause of congenital hypoventilation in a premature infant
- Higher baseline heart rate variability in CCHS patients with progestin-associated recovery of hypercapnic ventilatory response
- Hirschsprung disease
- Identification of clinical factors related to antibody-mediated immune response to the subfornical organ
- Images: Atypical presentation of congenital central hypoventilation syndrome in an infant with central and obstructive sleep apnea
- Impaired ventilation during 6-min walk test in congenital central hypoventilation syndrome
- Knockdown of PHOX2B in the retrotrapezoid nucleus reduces the central CO<sub>2</sub> chemoreflex in rats
- Later Onset Congenital Central Hypoventilation Syndrome
- Long-term home mechanical ventilation using a noninvasive ventilator via tracheotomy in patients with myasthenia gravis: a case report and literature review
- Maxillary Hypoplasia and Non-Invasive Ventilation: Literature Review and Proposed New Treatment Protocol
- Molecular Organization and Patterning of the Medulla Oblongata in Health and Disease
- Monitoring of physiologic features and treatment aspects of children on home invasive mechanical ventilation
- Multidisciplinary approach to congenital central hypoventilation syndrome during pregnancy: case report
- Multidrug-Resistant <em>Corynebacterium striatum</em> Developed During Treatment of Ommaya Reservoir Infection
- Mutations of PHOX2B Gene in Patients of Obesity Hypoventilation Syndrome in Central India
- Neuroblastoma Predisposition and Surveillance-An Update from the 2023 AACR Childhood Cancer Predisposition Workshop
- Neurocognition as a biomarker in the rare autonomic disorders of CCHS and ROHHAD
- Neurocognitive monitoring in congenital central hypoventilation syndrome with the NIH Toolbox
- Neurocognitive monitoring in congenital central hypoventilation syndrome with the NIH Toolbox®
- Neurogenic hypertension characterizes children with congenital central hypoventilation syndrome and is aggravated by alveolar hypoventilation during sleep
- Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death
- Noninvasive ventilation via bilevel positive airway pressure improved sleep in a child with congenital central hypoventilation syndrome: A case report
- Novel Treatment of Ventilator Dyssynchrony From Central Alveolar Hypoventilation Syndrome Utilizing Scheduled 5-Hydroxytryptamine-3 Receptor Antagonist
- Obstructive sleep apnea as a presentation of congenital central hypoventilation syndrome
- Organoid models of breathing disorders reveal patterning defect of hindbrain neurons caused by PHOX2B-PARMs
- Perioperative outcomes and the effects of anesthesia in congenital central hypoventilation patients
- PHOX2B: a diagnostic cornerstone in neurocristopathies and neuroblastomas
- Pulmonary hypertension in an adult patient with congenital central hypoventilation syndrome: a case report
- Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): a collaborative review of the current understanding
- Recurrence of CCHS-associated PHOX2B Poly-Alanine expansion variant due to paternal mosaicism
- Research advances on late-onset congenital central hypoventilation syndrome
- Revolutionizing congenital central hypoventilation syndrome screening: the potential of machine learning approaches
- Serotonin and the ventilatory effects of etonogestrel, a gonane progestin, in a murine model of congenital central hypoventilation syndrome
- Short-term cognitive loading deteriorates breathing pattern and gas exchange in adult patients with congenital central hypoventilation syndrome
- Significance of Serum Oxidative and Antioxidative Status in Congenital Central Hypoventilation Syndrome (CCHS) Patients
- Sleep disturbances in parental caregivers and patients with congenital central hypoventilation syndrome
- Sleep dysregulation in sympathetic-mediated diseases: implications for disease progression
- Structural characterization of PHOX2B and its DNA interaction shed light on the molecular basis of the +7Ala variant pathogenicity in CCHS
- Study of GCN repeats of PHOX2B gene among individuals from southwest China and diagnosis of two patients with Congenital central hypoventilation syndrome
- The future of rare autonomic disease research
- The Influence of Neurotrophins on the Brain-Lung Axis: Conception, Pregnancy, and Neonatal Period
- Three generations of a family diagnosed with congenital central hypoventilation syndrome: A case series
- Tracheostomy and inpatient outcomes among children with congenital central hypoventilation syndrome: A kids' inpatient database study
- Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome
- Two children with late-onset congenital central hypoventilation syndrome
- Urinary Biomarkers as a Proxy for Congenital Central Hypoventilation Syndrome Patient Follow-Up
- Ventilatory and Orthostatic Challenges Reveal Biomarkers for Neurocognition in Children and Young Adults With Congenital Central Hypoventilation Syndrome
- Volume assured pressure support mode use for non-invasive ventilation in pediatrics