Associated Papers
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N et al.
Journal of Cellular and Molecular Medicine, 2020
32277576 (PubMed )
Supplement: JCMM-24-4931-s010.xlsx › Sheet1
Causative and common PHOX2B variants define a broad phenotypic spectrum.
Bachetti T et al.
Clinical Genetics, 2020
PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.
Trochet D et al.
American Journal of Respiratory and Critical Care Medicine, 2008
Prevalence and functional consequence of PHOX2B mutations in neuroblastoma.
Raabe EH et al.
Oncogene, 2008
PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome.
Or SF et al.
Chinese Medical Journal, 2006
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
Association between schizophrenia with ocular misalignment and polyalanine length variation in PMX2B.
Toyota T et al.
Human Molecular Genetics, 2004
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