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Volumn 62, Issue 10, 2007, Pages 919-920

Central hypoventilation with PHOX2B expansion mutation presenting in adulthood

Author keywords

[No Author keywords available]

Indexed keywords

FUROSEMIDE;

EID: 35348964070     PISSN: 00406376     EISSN: None     Source Type: Journal    
DOI: 10.1136/thx.2006.068908     Document Type: Article
Times cited : (25)

References (13)
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    • Weese-Mayer, D.E.1    Shannon, D.C.2    Keens, T.G.3
  • 2
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    • 24-hour BP in children with congenital central hypoventilation syndrome
    • Trang H, Boureghda S, Denjoy I, et al. 24-hour BP in children with congenital central hypoventilation syndrome. Chest 2003;124:1393-9.
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  • 3
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    • Abnormal oesophageal motility in children with congenital central hypoventilation syndrome
    • Faure C, Viarme F, Cargill G, et al. Abnormal oesophageal motility in children with congenital central hypoventilation syndrome. Gastroenterology 2002;122:1258-63.
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    • Faure, C.1    Viarme, F.2    Cargill, G.3
  • 4
    • 0037379890 scopus 로고    scopus 로고
    • Polyalanine expansion and frameshift mutations of the paired like homeobox gene Phox2b in congenital central hypoventilation syndrome
    • Amiel J, Laudier B, Attie-Bitach T, et al. Polyalanine expansion and frameshift mutations of the paired like homeobox gene Phox2b in congenital central hypoventilation syndrome. Nat Genet 2003;33:459-61.
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    • Amiel, J.1    Laudier, B.2    Attie-Bitach, T.3
  • 5
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    • Phox2b controls the development of peripheral chemoreceptors and afferent visceral pathways
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    • Dauger, S.1    Pattyn, A.2    Lofaso, F.3
  • 6
    • 2342474459 scopus 로고    scopus 로고
    • Phox2b mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset central hypoventilation
    • Matera I, Bachetti T, Puppo F, et al. Phox2b mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset central hypoventilation. J Med Genet 2004;41:373-80.
    • (2004) J Med Genet , vol.41 , pp. 373-380
    • Matera, I.1    Bachetti, T.2    Puppo, F.3
  • 7
    • 0033987475 scopus 로고    scopus 로고
    • Late-onset central hypoventilation with hypothalamic dysfunction: A distinct clinical syndrome
    • Katz ES, McGrath S, Marcus CL. Late-onset central hypoventilation with hypothalamic dysfunction: a distinct clinical syndrome. Pediatr Pulmonal 2000;29:62-8.
    • (2000) Pediatr Pulmonal , vol.29 , pp. 62-68
    • Katz, E.S.1    McGrath, S.2    Marcus, C.L.3
  • 8
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    • Late onset hypoventilation syndrome: Is there a spectrum of idiopathic hypoventilation syndromes?
    • Gothi D, Joshi JM. Late onset hypoventilation syndrome: is there a spectrum of idiopathic hypoventilation syndromes? Indian J Chest Dis Allied Sci 2005;47:293-8.
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    • Gothi, D.1    Joshi, J.M.2
  • 9
    • 11144236141 scopus 로고    scopus 로고
    • Adult identified with congenital central hypoventilation syndrome - mutation in Phox2b gene and late-onset CHS
    • Weese-Mayer DE, Berry-Kravis EM, Zhou L. Adult identified with congenital central hypoventilation syndrome - mutation in Phox2b gene and late-onset CHS. Am J Respir Crit Care Med 2005;171:88.
    • (2005) Am J Respir Crit Care Med , vol.171 , pp. 88
    • Weese-Mayer, D.E.1    Berry-Kravis, E.M.2    Zhou, L.3
  • 10
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  • 11
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    • Occlusion pressure as a measure of respiratory centre output in conscious man
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    • Gelb, A.F.1    Klien, E.2    Sciffman, P.3
  • 13
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    • Phox2b genotype allows for prediction of tumour risk in congenital central hypoventilation syndrome
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.