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
Adolescent Congenital Central Hypoventilation Syndrome: An Easily Overlooked Diagnosis.
Ditmer M et al.
International Journal of Environmental Research and Public Health, 2021
Causative and common PHOX2B variants define a broad phenotypic spectrum.
Bachetti T et al.
Clinical Genetics, 2020
Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.
Di Lascio S et al.
Human Mutation, 2018
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
Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation.
Magalhães J et al.
Sleep & Breathing = Schlaf & Atmung, 2015
[ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management].
Weese-Mayer DE et al.
Revue Des Maladies Respiratoires, 2013
Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome.
Bachetti T et al.
Journal of Molecular Medicine (berlin, Germany), 2011
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 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
A novel missense mutation in the PHOX2B gene is associated with late onset central hypoventilation syndrome.
Parodi S et al.
Pediatric Pulmonology, 2008
PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.
Trochet D et al.
American Journal of Respiratory and Critical Care Medicine, 2008
Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome.
Parodi S et al.
Human Mutation, 2008