Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society - 1 Jun 2007

Diedrich André, Malow Beth A, Antic Nick A, Sato Kyoko, McEvoy R Doug, Mathias Christopher J, Robertson David, Berry-Kravis Elizabeth M, Weese-Mayer Debra E

Abstract excerpt

BACKGROUND: Children with Congenital Central Hypoventilation Syndrome (CCHS) typically present as newborns with alveolar hypoventilation. With the advent of genetic testing, parents of affected children and other unrelated adults, all heterozygous for the disease-defining PHOX2B polyalanine expansion mutation with the 20/25 genotype, are being identified in adulthood. Though children with PHOX2B...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Blood Pressure
Share to Catecholamines

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Function Tests

Share to Heart Rate

Share to Respiratory Function Tests

Share to Sleep Apnea, Central

Share to Sympathetic Nervous System

Share to Vagus Nerve

Source

Identifiers

PMID: 17541758
DOI: 10.1007/s10286-007-0421-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome.PMID 17541758Read ↗

Congenital central hypoventilation syndrome: diagnosis and management.Semantic proximity Read ↗

An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.Semantic proximity Read ↗

Heart rate variability: longitudinal cardioautonomic physiomarker in congenital central hypoventilation syndrome.Semantic proximity Read ↗

Guidelines for diagnosis and management of congenital central hypoventilation syndrome.Semantic proximity Read ↗

Autonomic function in children with congenital central hypoventilation syndrome and their families.Semantic proximity Read ↗

Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.Semantic proximity Read ↗

Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life.Semantic proximity Read ↗

Congenital central hypoventilation syndrome and sudden infant death syndrome: disorders of autonomic regulation.Semantic proximity Read ↗

In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.Semantic proximity Read ↗

Central congenital hypoventilation syndrome: changing face of a less mysterious but more complex genetic disorder.Semantic proximity Read ↗

PHOX2B mutations and ventilatory control.Semantic proximity Read ↗

Congenital central hypoventilation syndrome without hypoventilation: is it congenital central hypoventilation syndrome?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.