Associated Papers
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
Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.
Di Zanni E et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 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
[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
PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma.
Longo L et al.
International Journal of Oncology, 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
Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome.
Bachetti T et al.
Human Molecular Genetics, 2005
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