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
Identifying a novel PHOX2B gene variant in a neuroblastoma family: A case report.
Wu X et al.
Heliyon, 2024
Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature.
Wang Y et al.
Molecular Genetics & Genomic Medicine, 2023
Congenital central hypoventilation syndrome in neonates: report of fourteen new cases and a review of the literature.
Mei M et al.
Translational Pediatrics, 2021
Causative and common PHOX2B variants define a broad phenotypic spectrum.
Bachetti T et al.
Clinical Genetics, 2020
Congenital heart disease and aortic arch variants associated with mutation in PHOX2B.
Lombardo RC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Atypical presentations associated with non-polyalanine repeat PHOX2B mutations.
Katwa U et al.
American Journal of Medical Genetics. Part A, 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
Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations.
Heide S et al.
Pediatric Blood & Cancer, 2016
[Congenital central hypoventilation syndrome, report of three cases].
Wang Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013
[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 from past to future: model for translational and transitional autonomic medicine.
Weese-Mayer DE et al.
Pediatric Pulmonology, 2009
Interaction between PHOX2B and CREBBP mediates synergistic activation: mechanistic implications of PHOX2B mutants.
Wu HT et al.
Human Mutation, 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 mutations and phenotype.
Berry-Kravis EM et al.
American Journal of Respiratory and Critical Care Medicine, 2006
PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations.
McConville C et al.
American Journal of Medical Genetics. Part A, 2006
Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology.
Todd ES et al.
Pediatric Research, 2006
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.
Trochet D et al.
American Journal of Human Genetics, 2005