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367 related items for PubMed ID: 15334515

  • 1. PHOX2B gene mutation in a patient with late-onset central hypoventilation.
    Trang H, Laudier B, Trochet D, Munnich A, Lyonnet S, Gaultier C, Amiel J.
    Pediatr Pulmonol; 2004 Oct; 38(4):349-51. PubMed ID: 15334515
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  • 2. PHOX2B in respiratory control: lessons from congenital central hypoventilation syndrome and its mouse models.
    Amiel J, Dubreuil V, Ramanantsoa N, Fortin G, Gallego J, Brunet JF, Goridis C.
    Respir Physiol Neurobiol; 2009 Aug 31; 168(1-2):125-32. PubMed ID: 19712905
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  • 3. Late-onset hypoventilation without PHOX2B mutation or hypothalamic abnormalities.
    D'Alessandro V, Mason T, Pallone MN, Patano J, Marcus CL.
    J Clin Sleep Med; 2005 Apr 15; 1(2):169-72. PubMed ID: 17561633
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  • 4. PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome.
    Or SF, Tong MF, Lo FM, Law CW, Miu TY, Trochet D, Lam TS.
    Chin Med J (Engl); 2006 Oct 20; 119(20):1749-52. PubMed ID: 17097025
    [No Abstract] [Full Text] [Related]

  • 5. Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).
    Trochet D, de Pontual L, Estêvao MH, Mathieu Y, Munnich A, Feingold J, Goridis C, Lyonnet S, Amiel J.
    Hum Mutat; 2008 May 20; 29(5):770. PubMed ID: 18407552
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  • 6. Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene.
    Repetto GM, Corrales RJ, Abara SG, Zhou L, Berry-Kravis EM, Rand CM, Weese-Mayer DE.
    Acta Paediatr; 2009 Jan 20; 98(1):192-5. PubMed ID: 18798833
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  • 7. Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome.
    Cross SH, Morgan JE, Pattyn A, West K, McKie L, Hart A, Thaung C, Brunet JF, Jackson IJ.
    Hum Mol Genet; 2004 Jul 15; 13(14):1433-9. PubMed ID: 15150159
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  • 8. PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.
    Trochet D, de Pontual L, Straus C, Gozal D, Trang H, Landrieu P, Munnich A, Lyonnet S, Gaultier C, Amiel J.
    Am J Respir Crit Care Med; 2008 Apr 15; 177(8):906-11. PubMed ID: 18079495
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  • 10. Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.
    Weese-Mayer DE, Rand CM, Berry-Kravis EM, Jennings LJ, Loghmanee DA, Patwari PP, Ceccherini I.
    Pediatr Pulmonol; 2009 Jun 15; 44(6):521-35. PubMed ID: 19422034
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  • 11. Congenital central hypoventilation syndrome with hirschsprung's disease due to PHOX2B gene mutation in a Turkish infant.
    Kaymakçi A, Narter F, Yazar AS, Yilmaz MS.
    Turk J Pediatr; 2012 Jun 15; 54(5):519-22. PubMed ID: 23427517
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  • 14. Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome.
    Di Lascio S, Bachetti T, Saba E, Ceccherini I, Benfante R, Fornasari D.
    Neurobiol Dis; 2013 Feb 15; 50():187-200. PubMed ID: 23103552
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  • 15. Congenital central hypoventilation syndrome and the PHOX2B gene mutation.
    Marion TL, Bradshaw WT.
    Neonatal Netw; 2011 Feb 15; 30(6):397-401. PubMed ID: 22052119
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  • 16. [Ondine syndrome or central congenital hypoventilation syndrome].
    Trang H.
    Rev Prat; 2006 Jan 31; 56(2):125-8. PubMed ID: 16584036
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  • 17. Late onset congenital central hypoventilation syndrome after exposure to general anesthesia.
    Mahfouz AK, Rashid M, Khan MS, Reddy P.
    Can J Anaesth; 2011 Dec 31; 58(12):1105-9. PubMed ID: 21989548
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  • 19. Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).
    de Pontual L, Népote V, Attié-Bitach T, Al Halabiah H, Trang H, Elghouzzi V, Levacher B, Benihoud K, Augé J, Faure C, Laudier B, Vekemans M, Munnich A, Perricaudet M, Guillemot F, Gaultier C, Lyonnet S, Simonneau M, Amiel J.
    Hum Mol Genet; 2003 Dec 01; 12(23):3173-80. PubMed ID: 14532329
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  • 20. Sinus vein thrombosis as presenting finding in the congenital central hypoventilation syndrome: an insight on the pathophysiology of the association.
    Joseph L, Goldberg S, Shahroor S, Gomori M, Mimouni FB, Picard E.
    Pediatr Pulmonol; 2011 Aug 01; 46(8):826-8. PubMed ID: 21465679
    [Abstract] [Full Text] [Related]

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