Associated Papers
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Mensah MA et al.
Nature, 2023
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
A case of congenital central hypoventilation syndrome in a three-generation family with non-polyalanine repeat PHOX2B mutation.
Low KJ et al.
Pediatric Pulmonology, 2014
A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.
Amimoto Y et al.
Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2014
[Congenital central hypoventilation syndrome: paradigm shifts and future prospects].
Hayasaka K et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2014
[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
Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation.
Weese-Mayer DE et al.
Respiratory Physiology & Neurobiology, 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
Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
Berry-Kravis EM et al.
American Journal of Respiratory and Critical Care Medicine, 2006
The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells.
Borghini S et al.
The Biochemical Journal, 2006
In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.
Weese-Mayer DE et al.
Respiratory Physiology & Neurobiology, 2005
Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome.
Bachetti T et al.
Human Molecular Genetics, 2005
PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome.
Matera I et al.
Journal of Medical Genetics, 2004