Congenital Central Hypoventilation Syndrome Latest Advances

Find the Latest Research About Congenital Central Hypoventilation Syndrome

Last Updated: 04/28/2026

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Found 512 publications

Long-term non-invasive ventilation in children with central nervous system disorders: A systematic review and meta-analysis.

Long-term non-invasive ventilation in children with central nervous system disorders: A systematic review and meta-analysis.

Journal: Paediatric respiratory reviews

Published: February 02, 2026

PHOX2B Tyr14Ter Mutation Might Be Associated with Sustained Diurnal Hypertension: Case Report and Review of the Literature.

PHOX2B Tyr14Ter Mutation Might Be Associated with Sustained Diurnal Hypertension: Case Report and Review of the Literature.

Journal: Children (Basel, Switzerland)

Published: January 29, 2026

Paired-Like Homeobox 2B (PHOX2B) Mutation and the Hidden Endocrine Puzzle: Hyperinsulinism in Congenital Central Hypoventilation Syndrome.

Paired-Like Homeobox 2B (PHOX2B) Mutation and the Hidden Endocrine Puzzle: Hyperinsulinism in Congenital Central Hypoventilation Syndrome.

Journal: Cureus

Published: December 13, 2025

Transjugular Leadless Pacemaker Implantation in an Adolescent With Central Hypoventilation Syndrome: A Case Report.

Transjugular Leadless Pacemaker Implantation in an Adolescent With Central Hypoventilation Syndrome: A Case Report.

Journal: Pacing and clinical electrophysiology : PACE

Published: November 21, 2025

Heart Rate Variability: Longitudinal Cardioautonomic Physiomarker in Congenital Central Hypoventilation Syndrome.

Heart Rate Variability: Longitudinal Cardioautonomic Physiomarker in Congenital Central Hypoventilation Syndrome.

Journal: Annals of the American Thoracic Society

Published: November 13, 2025

International Congenital Central Hypoventilation Syndrome (CCHS) Registry: Analysis of Patient-Reported Symptoms by PHOX2B Variant.

International Congenital Central Hypoventilation Syndrome (CCHS) Registry: Analysis of Patient-Reported Symptoms by PHOX2B Variant.

Journal: Pediatric pulmonology

Published: November 11, 2025

Generation of iPSC lines (UMILi032-A, UMILi033-A, UMILi034-A, UMILi035-A, UMILi036-A) from five Congenital Central Hypoventilation Syndrome patients carrying different poly-alanine expansion mutations in the PHOX2B gene.

Generation of iPSC lines (UMILi032-A, UMILi033-A, UMILi034-A, UMILi035-A, UMILi036-A) from five Congenital Central Hypoventilation Syndrome patients carrying different poly-alanine expansion mutations in the PHOX2B gene.

Journal: Stem cell research

Published: October 24, 2025

Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus.

Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus.

Journal: Clinical genetics

Published: September 30, 2025

A Rare Co-Occurrence of Gastric Heterotopia and Autonomic Nervous System Dysfunction: An Attempt to Explain If There Is a Need to Explore Possible Syndromic Link.

A Rare Co-Occurrence of Gastric Heterotopia and Autonomic Nervous System Dysfunction: An Attempt to Explain If There Is a Need to Explore Possible Syndromic Link.

Journal: Journal of medical cases

Published: August 09, 2025

Novel Pulmonary Manifestations in Pediatric Late-Onset Congenital Central Hypoventilation Syndrome: A Case Series of PHOX2B-Associated Pulmonary Hypertension and Pulmonary Alveolar Hemorrhage.

Novel Pulmonary Manifestations in Pediatric Late-Onset Congenital Central Hypoventilation Syndrome: A Case Series of PHOX2B-Associated Pulmonary Hypertension and Pulmonary Alveolar Hemorrhage.

Journal: Pediatric pulmonology

Published: August 06, 2025

Cesarean delivery with low-dose combined spinal epidural in a patient with congenital central hypoventilation syndrome: a case report.

Cesarean delivery with low-dose combined spinal epidural in a patient with congenital central hypoventilation syndrome: a case report.

Journal: International journal of obstetric anesthesia

Published: July 02, 2025

Regulation of PHOX2B gene expression by the long non-coding natural antisense RNA PHOX2B-AS1.

Regulation of PHOX2B gene expression by the long non-coding natural antisense RNA PHOX2B-AS1.

Journal: The FEBS journal

Published: May 28, 2025

Showing 1-12 of 512

Last Updated: 04/28/2026