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Volumn 38, Issue 4, 2004, Pages 349-351

PHOX2B gene mutation in a patient with late-onset central hypoventilation

Author keywords

Central hypoventilation; Late onset; PHOX2B

Indexed keywords

PHOX2B PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

EID: 3543070359     PISSN: 87556863     EISSN: None     Source Type: Journal    
DOI: 10.1002/ppul.20074     Document Type: Article
Times cited : (45)

References (8)
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    • Gozal, D.1
  • 4
    • 0344033754 scopus 로고    scopus 로고
    • 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;123: 267-278.
    • (2003) Am J Med Genet , vol.123 , 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
    • 0033609337 scopus 로고    scopus 로고
    • The homeobox gene PHOX2B is essential for the development of autonomic neural crest derivatives
    • Pattyn A, Morin X, Cremer H, Goridis C, Brunet JF. The homeobox gene PHOX2B is essential for the development of autonomic neural crest derivatives. Nature 1999;399:366-370.
    • (1999) Nature , vol.399 , pp. 366-370
    • Pattyn, A.1    Morin, X.2    Cremer, H.3    Goridis, C.4    Brunet, J.F.5
  • 6
    • 0017762695 scopus 로고
    • A test of the ventilatory response to hypoxia and hypercapnia for clinical use
    • Hensley MJ, Read DJ. A test of the ventilatory response to hypoxia and hypercapnia for clinical use. Aust N Z J Med 1977;7: 362-367.
    • (1977) Aust N Z J Med , vol.7 , pp. 362-367
    • Hensley, M.J.1    Read, D.J.2
  • 7
    • 0142074252 scopus 로고    scopus 로고
    • Twenty-four hour blood pressure in children with congenital central hypoventilation syndrome
    • Trang H, Boureghda S, Denjoy I, Alia M, Kabaker M. Twenty-four hour blood pressure in children with congenital central hypoventilation syndrome. Chest 2003;124:1393-1399.
    • (2003) Chest , vol.124 , pp. 1393-1399
    • Trang, H.1    Boureghda, S.2    Denjoy, I.3    Alia, M.4    Kabaker, M.5
  • 8
    • 0033987475 scopus 로고    scopus 로고
    • Late-onset central hypoventilation syndrome with hypothalamic dysfunction: A distinct clinical syndrome
    • Katz ES, McGrawth S, Marcus CL. Late-onset central hypoventilation syndrome with hypothalamic dysfunction: a distinct clinical syndrome. Pediatr Pulmonol 2000;29:62-68.
    • (2000) Pediatr Pulmonol , vol.29 , pp. 62-68
    • Katz, E.S.1    McGrawth, S.2    Marcus, C.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.