Research By Disease – CheckOrphan

Disease: Congenital central hypoventilation syndrome

Phox2b mutation mediated by Atoh1 expression impaired respiratory rhythm and ventilatory responses to hypoxia and hypercapnia
phox2ba: 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 TPM3 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 PHOX2B 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 CO2 chemosensitivity and CO2 controller gain independently contribute to daytime Pco2 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 CO2 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 Corynebacterium striatum 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