Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients.
about
Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locusCarbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation.An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2.The intrinsic innervation of the lung is derived from neural crest cells as shown by optical projection tomography in Wnt1-Cre;YFP reporter mice.Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development.Multiple functional effects of RET kinase domain sequence variants in Hirschsprung disease.Development of the neural crest-derived intrinsic innervation of the human lung.Clinico-pathologic conference: congenital hypomyelinating neuropathy in two infants of a triplet birth.Epidemiologic survey of patients with congenital central hypoventilation syndrome in Japan.
P2860
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P2860
Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
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2003年学术文章
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2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
Association of germline mutati ...... ation syndrome in 33 patients.
@en
Association of germline mutati ...... ation syndrome in 33 patients.
@nl
type
label
Association of germline mutati ...... ation syndrome in 33 patients.
@en
Association of germline mutati ...... ation syndrome in 33 patients.
@nl
prefLabel
Association of germline mutati ...... ation syndrome in 33 patients.
@en
Association of germline mutati ...... ation syndrome in 33 patients.
@nl
P2093
P356
P1476
Association of germline mutati ...... ation syndrome in 33 patients.
@en
P2093
P356
10.1136/JMG.40.2.E10
P407
P577
2003-02-01T00:00:00Z