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

Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome.

Journal of molecular medicine (Berlin, Germany) - 1 May 2011

Bachetti Tiziana, Parodi Sara, Di Duca Marco, Santamaria Giuseppe, Ravazzolo Roberto, Ceccherini Isabella

Abstract excerpt

Heterozygous trinucleotide in frame duplications, leading to expansions of variable lengths of a 20-alanine stretch (polyAla), is the most frequent PHOX2B variant associated with congenital central hypoventilation syndrome (CCHS), a rare neurocristopathy characterized by defective response of the autonomic nervous system to hypoxia and hypercapnia. Sequencing analysis has shown that the vast majority of polyAla...

Read the complete abstract on PubMed

Topics

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

Share to Electrophoresis, Capillary
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to Hypoventilation

Share to Mutation

Share to Neuroscience of respiration and sleep

Share to Sleep Apnea, Central

Share to Transcription Factors

Source

Identifiers

PMID: 21336852
DOI: 10.1007/s00109-010-0718-y

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

Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome.PMID 21336852Read ↗

Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome.Semantic proximity Read ↗

Recurrence of CCHS-associated PHOX2B Poly-Alanine expansion variant due to paternal mosaicism.Semantic proximity Read ↗

Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome.Semantic proximity Read ↗

Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).Semantic proximity Read ↗

PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?Semantic proximity Read ↗

Causative and common PHOX2B variants define a broad phenotypic spectrumSemantic proximity Read ↗

Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).Semantic proximity Read ↗

PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.Semantic proximity Read ↗

Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Gene Non-Polyalanine Repeat Mutation.Semantic proximity Read ↗

Congenital central hypoventilation syndrome: genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation.Semantic proximity Read ↗

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.Semantic proximity Read ↗

PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood.Semantic proximity Read ↗

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