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Volumn 174, Issue 8, 2006, Pages 923-927

PHOX2B mutation-confirmed congenital central hypoventilation syndrome: Presentation in adulthood

Author keywords

Congenital central hypoventilation syndrome; PHOX2B gene

Indexed keywords

ALANINE;

EID: 33749822541     PISSN: 1073449X     EISSN: 1073449X     Source Type: Journal    
DOI: 10.1164/rccm.200605-607CR     Document Type: Article
Times cited : (110)

References (13)
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  • 3
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    • Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2B
    • Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME, Marazita ML. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2B. Am J Med Genet 2003;123A:267-278.
    • (2003) Am J Med Genet , vol.123 A , pp. 267-278
    • Weese-Mayer, D.E.1    Berry-Kravis, E.M.2    Zhou, L.3    Maher, B.S.4    Silvestri, J.M.5    Curran, M.E.6    Marazita, M.L.7
  • 5
    • 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 syndrome
    • Matera I, Bachetti T, Puppo F, Di Duca M, Morandi F, Casiraghi GM, Cilio MR, Hennekam R, Hofstra R, Schober JG, 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 syndrome. J Med Genet 2004;41:373-380.
    • (2004) J Med Genet , vol.41 , pp. 373-380
    • Matera, I.1    Bachetti, T.2    Puppo, F.3    Di Duca, M.4    Morandi, F.5    Casiraghi, G.M.6    Cilio, M.R.7    Hennekam, R.8    Hofstra, R.9    Schober, J.G.10
  • 8
    • 26044432811 scopus 로고    scopus 로고
    • In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome
    • Weese-Mayer DE, Berry-Kravis EM, Marazita ML. In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome. Respir Physiol Neurobiol 2005;149:73-82.
    • (2005) Respir Physiol Neurobiol , vol.149 , pp. 73-82
    • Weese-Mayer, D.E.1    Berry-Kravis, E.M.2    Marazita, M.L.3
  • 10
    • 0036985563 scopus 로고    scopus 로고
    • Primary alveolar hypoventilation and response to the respiratory stimulant almitrine
    • Antic N, McEvoy RD. Primary alveolar hypoventilation and response to the respiratory stimulant almitrine. Intern Med J 2002;32:622-624.
    • (2002) Intern Med J , vol.32 , pp. 622-624
    • Antic, N.1    McEvoy, R.D.2
  • 11
    • 1942467236 scopus 로고    scopus 로고
    • Long-term survival of a patient with congenital central hypoventilation syndrome despite the lack of continuous ventilatory support
    • Windisch W, Hennings E, Storre JH, Matthys H, Sorichter S. Long-term survival of a patient with congenital central hypoventilation syndrome despite the lack of continuous ventilatory support. Respiration (Herrlisheim) 2004;71:195-198.
    • (2004) Respiration (Herrlisheim) , vol.71 , pp. 195-198
    • Windisch, W.1    Hennings, E.2    Storre, J.H.3    Matthys, H.4    Sorichter, S.5
  • 12
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    • Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome
    • Bachetti T, Matera I, Borghini S, Di Duca M, Ravazzolo R, Ceccherini I. Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome. Hum Mol Genet 2005;14:1815-1824.
    • (2005) Hum Mol Genet , vol.14 , pp. 1815-1824
    • Bachetti, T.1    Matera, I.2    Borghini, S.3    Di Duca, M.4    Ravazzolo, R.5    Ceccherini, I.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.