Associated Papers
A Common 3'UTR Variant of the PHOX2B Gene Is Associated With Infant Life-Threatening and Sudden Death Events in the Italian Population.
Bachetti T et al.
Frontiers in Neurology, 2021
Causative and common PHOX2B variants define a broad phenotypic spectrum.
Bachetti T et al.
Clinical Genetics, 2020
Rare occurrence of PHOX2b mutations in sporadic neuroblastomas.
Serra A et al.
Journal of Pediatric Hematology/oncology, 2008
Prevalence and functional consequence of PHOX2B mutations in neuroblastoma.
Raabe EH et al.
Oncogene, 2008
Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma.
de Pontual L et al.
European Journal of Cancer (oxford, England : 1990), 2007
Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome.
Bachetti T et al.
American Journal of Respiratory and Critical Care Medicine, 2006
Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene.
Rand CM et al.
American Journal of Medical Genetics. Part A, 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 PHOX2B mutation in hereditary neuroblastoma.
Mosse YP et al.
American Journal of Human Genetics, 2004
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
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