Associated Papers
Causative and common PHOX2B variants define a broad phenotypic spectrum.
Bachetti T et al.
Clinical Genetics, 2020
Atypical presentations associated with non-polyalanine repeat PHOX2B mutations.
Katwa U et al.
American Journal of Medical Genetics. Part A, 2018
Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.
Cain JT et al.
American Journal of Medical Genetics. Part A, 2017
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
Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear Import.
Di Lascio S et al.
The Journal of Biological Chemistry, 2016
Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations.
Heide S et al.
Pediatric Blood & Cancer, 2016
Recent insights into the biology of neuroblastoma.
Schleiermacher G et al.
International Journal of Cancer, 2014
Mutations that disrupt PHOXB interaction with the neuronal calcium sensor HPCAL1 impede cellular differentiation in neuroblastoma.
Wang W et al.
Oncogene, 2014
[ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management].
Weese-Mayer DE et al.
Revue Des Maladies Respiratoires, 2013
Distinct neuroblastoma-associated alterations of PHOX2B impair sympathetic neuronal differentiation in zebrafish models.
Pei D et al.
Plos Genetics, 2013
Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome.
Di Lascio S et al.
Neurobiology of Disease, 2013
Midkine and Alk signaling in sympathetic neuron proliferation and neuroblastoma predisposition.
Reiff T et al.
Development (cambridge, England), 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
Neuroblastoma phox2b variants stimulate proliferation and dedifferentiation of immature sympathetic neurons.
Reiff T et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 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
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
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.
Bourdeaut F et al.
Cancer Letters, 2005
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.
Trochet D et al.
American Journal of Human Genetics, 2005
Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.
Weese-Mayer DE et al.
American Journal of Medical Genetics. Part A, 2003