These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

477 related items for PubMed ID: 15150159

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Pupillometry in congenital central hypoventilation syndrome (CCHS): quantitative evidence of autonomic nervous system dysregulation.
    Patwari PP, Stewart TM, Rand CM, Carroll MS, Kuntz NL, Kenny AS, Brogadir CD, Weese-Mayer DE.
    Pediatr Res; 2012 Mar 15; 71(3):280-5. PubMed ID: 22278185
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Unequal crossover recombination - population screening for PHOX2B gene polyalanine polymorphism using CE.
    Hung CC, Su YN, Tsao PN, Chen PC, Lin SJ, Lin CH, Mu SC, Liu CA, Chang YC, Lin WL, Hsieh WS, Hsu SM.
    Electrophoresis; 2007 Mar 15; 28(6):894-9. PubMed ID: 17300129
    [Abstract] [Full Text] [Related]

  • 5. PHOX2B mutations and ventilatory control.
    Gallego J, Dauger S.
    Respir Physiol Neurobiol; 2008 Dec 10; 164(1-2):49-54. PubMed ID: 18675942
    [Abstract] [Full Text] [Related]

  • 6. 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 10; 44(6):521-35. PubMed ID: 19422034
    [Abstract] [Full Text] [Related]

  • 7. 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 10; 29(5):770. PubMed ID: 18407552
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers.
    Jennings LJ, Yu M, Zhou L, Rand CM, Berry-Kravis EM, Weese-Mayer DE.
    Diagn Mol Pathol; 2010 Dec 31; 19(4):224-31. PubMed ID: 21051998
    [Abstract] [Full Text] [Related]

  • 10. Congenital central hypoventilation syndrome and the PHOX2B gene mutation.
    Marion TL, Bradshaw WT.
    Neonatal Netw; 2011 Dec 31; 30(6):397-401. PubMed ID: 22052119
    [Abstract] [Full Text] [Related]

  • 11. 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 31; 98(1):192-5. PubMed ID: 18798833
    [Abstract] [Full Text] [Related]

  • 12. Heterozygous 24-polyalanine repeats in the PHOX2B gene with different manifestations across three generations.
    Chuen-im P, Marwan S, Carter J, Kemp J, Rivera-Spoljaric K.
    Pediatr Pulmonol; 2014 Feb 31; 49(2):E13-6. PubMed ID: 23460419
    [Abstract] [Full Text] [Related]

  • 13. 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 31; 38(4):349-51. PubMed ID: 15334515
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear Import.
    Di Lascio S, Belperio D, Benfante R, Fornasari D.
    J Biol Chem; 2016 Jun 17; 291(25):13375-93. PubMed ID: 27129232
    [Abstract] [Full Text] [Related]

  • 16. In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.
    Weese-Mayer DE, Berry-Kravis EM, Marazita ML.
    Respir Physiol Neurobiol; 2005 Nov 15; 149(1-3):73-82. PubMed ID: 16054879
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. Congenital central hypoventilation syndrome.
    Ramanantsoa N, Gallego J.
    Respir Physiol Neurobiol; 2013 Nov 01; 189(2):272-9. PubMed ID: 23692929
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene.
    Klaskova E, Drabek J, Hobzova M, Smolka V, Seda M, Hyjanek J, Slavkovsky R, Stranska J, Prochazka M.
    Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2016 Dec 20; 160(4):495-498. PubMed ID: 27485184
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 24.