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Journal Abstract Search

269 related items for PubMed ID: 17097025

  • 1. 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
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  • 3. 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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  • 5. PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood.
    Antic NA, Malow BA, Lange N, McEvoy RD, Olson AL, Turkington P, Windisch W, Samuels M, Stevens CA, Berry-Kravis EM, Weese-Mayer DE.
    Am J Respir Crit Care Med; 2006 Oct 15; 174(8):923-7. PubMed ID: 16873766
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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. Congenital central hypoventilation syndrome (CCHS) with Hirschsprung disease (Haddad syndrome): an unusual cause of reduced baseline variability of the fetal heart rate.
    Majumdar S, Wood P.
    J Obstet Gynaecol; 2009 Feb 15; 29(2):152-3. PubMed ID: 19274556
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  • 9. PHOX2B mutation in a Taiwanese newborn with congenital central hypoventilation syndrome.
    Wang TC, Su YN, Lai MC.
    Pediatr Neonatol; 2014 Feb 15; 55(1):68-70. PubMed ID: 23597545
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  • 10. Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS.
    Weese-Mayer DE, Berry-Kravis EM, Zhou L.
    Am J Respir Crit Care Med; 2005 Jan 01; 171(1):88. PubMed ID: 15615891
    [No Abstract] [Full Text] [Related]

  • 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 Jan 01; 54(5):519-22. PubMed ID: 23427517
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  • 12. Congenital central hypoventilation syndrome and the PHOX2B gene mutation.
    Marion TL, Bradshaw WT.
    Neonatal Netw; 2011 Jan 01; 30(6):397-401. PubMed ID: 22052119
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 50():187-200. PubMed ID: 23103552
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  • 14. 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 01; 98(1):192-5. PubMed ID: 18798833
    [Abstract] [Full Text] [Related]

  • 15. 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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  • 16. Pediatric disorders with autonomic dysfunction: what role for PHOX2B?
    Gaultier C, Trang H, Dauger S, Gallego J.
    Pediatr Res; 2005 Jul 15; 58(1):1-6. PubMed ID: 15901893
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  • 17. 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 15; 46(8):826-8. PubMed ID: 21465679
    [Abstract] [Full Text] [Related]

  • 18. 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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  • 19. A Novel c.676_677insG PHOX2B Mutation in Congenital Central Hypoventilation Syndrome.
    Ye G, Han D, Jiang Y, Wang Z, Zhou Y, Lin X, Chen W, Chen M, Xu J, Yang Y, Guo Q.
    J Clin Sleep Med; 2019 Mar 15; 15(3):509-513. PubMed ID: 30853048
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  • 20. [Ondine syndrome or central congenital hypoventilation syndrome].
    Trang H.
    Rev Prat; 2006 Jan 31; 56(2):125-8. PubMed ID: 16584036
    [Abstract] [Full Text] [Related]

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