Associated Papers
Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.
Cain B et al.
Biorxiv : the Preprint Server for Biology, 2025
The PHOX2B c.428A>G missense variant affects post-transcriptional regulation and may explain the absence of neural crest-derived tumors in congenital central hypoventilation syndrome.
Bachetti T et al.
Frontiers in Physiology, 2025
Variable phenotypes in congenital central hypoventilation syndrome with PHOX2B nonpolyalanine repeat mutations.
Kasi AS et al.
Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2021
Causative and common PHOX2B variants define a broad phenotypic spectrum.
Bachetti T et al.
Clinical Genetics, 2020
Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life.
Weese-Mayer DE et al.
Pediatric Research, 2017
[ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management].
Weese-Mayer DE et al.
Revue Des Maladies Respiratoires, 2013
An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.
Weese-Mayer DE et al.
American Journal of Respiratory and Critical Care Medicine, 2010
Congenital central hypoventilation syndrome: neurocognitive functioning in school age children.
Zelko FA et al.
Pediatric Pulmonology, 2010
Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.
Weese-Mayer DE et al.
Pediatric Pulmonology, 2009
In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.
Trochet D et al.
Human Mutation, 2009
PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.
Trochet D et al.
American Journal of Respiratory and Critical Care Medicine, 2008
Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death.
Gronli JO et al.
Pediatric Pulmonology, 2008
Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
Berry-Kravis EM et al.
American Journal of Respiratory and Critical Care Medicine, 2006
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.
Trochet D et al.
American Journal of Human Genetics, 2005