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Journal Abstract Search

439 related items for PubMed ID: 18658083

  • 1. Congenital muscle fiber-type disproportion in a patient with congenital central hypoventilation syndrome due to PHOX2B mutations.
    Khan A, Sarnat HB, Spaetgens R.
    J Child Neurol; 2008 Jul; 23(7):829-31. PubMed ID: 18658083
    [Abstract] [Full Text] [Related]

  • 2. Haddad syndrome: a case of an infant with central congenital hypoventilation syndrome and Hirschsprung disease.
    Lai D, Schroer B.
    J Child Neurol; 2008 Mar; 23(3):341-3. PubMed ID: 18230845
    [Abstract] [Full Text] [Related]

  • 3. Congenital fiber-type disproportion myopathy with type I fiber predominance and type II fiber smallness and atrophy--a sterological analysis.
    Rao TV, Koul RL, Inuwa IM.
    Clin Neuropathol; 2005 Mar; 24(1):26-31. PubMed ID: 15696781
    [Abstract] [Full Text] [Related]

  • 4. Actin mutations are one cause of congenital fibre type disproportion.
    Laing NG, Clarke NF, Dye DE, Liyanage K, Walker KR, Kobayashi Y, Shimakawa S, Hagiwara T, Ouvrier R, Sparrow JC, Nishino I, North KN, Nonaka I.
    Ann Neurol; 2004 Nov; 56(5):689-94. PubMed ID: 15468086
    [Abstract] [Full Text] [Related]

  • 5. Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation.
    Ou-Yang MC, Yang SN, Hsu YM, Ou-Yang MH, Haung HC, Lee SY, Hsieh WS, Su YN, Liu CA.
    J Pediatr Surg; 2007 Feb; 42(2):e9-11. PubMed ID: 17270534
    [Abstract] [Full Text] [Related]

  • 6. Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant.
    Bajaj R, Smith J, Trochet D, Pitkin J, Ouvrier R, Graf N, Sillence D, Kluckow M.
    Pediatrics; 2005 Jun; 115(6):e737-8. PubMed ID: 15930201
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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 Nov 15; 54(5):519-22. PubMed ID: 23427517
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 38(4):349-51. PubMed ID: 15334515
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 160(4):495-498. PubMed ID: 27485184
    [Abstract] [Full Text] [Related]

  • 11. Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation.
    Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Rand CM.
    Respir Physiol Neurobiol; 2008 Dec 10; 164(1-2):38-48. PubMed ID: 18579454
    [Abstract] [Full Text] [Related]

  • 12. Central congenital hypoventilation syndrome: changing face of a less mysterious but more complex genetic disorder.
    Grigg-Damberger M, Wells A.
    Semin Respir Crit Care Med; 2009 Jun 10; 30(3):262-74. PubMed ID: 19452387
    [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 10; 50():187-200. PubMed ID: 23103552
    [Abstract] [Full Text] [Related]

  • 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 10; 98(1):192-5. PubMed ID: 18798833
    [Abstract] [Full Text] [Related]

  • 15. 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 10; 28(6):894-9. PubMed ID: 17300129
    [Abstract] [Full Text] [Related]

  • 16. 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 10; 46(8):826-8. PubMed ID: 21465679
    [Abstract] [Full Text] [Related]

  • 17. A nonverbal learning disability in a case of central hypoventilation syndrome without a PHOX2B gene mutation.
    Trobliger R, Zaroff CM, Grayson RH, Higgins JJ.
    Child Neuropsychol; 2010 Aug 10; 16(2):202-8. PubMed ID: 19813116
    [Abstract] [Full Text] [Related]

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

  • 19. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death.
    Gronli JO, Santucci BA, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE.
    Pediatr Pulmonol; 2008 Jan 10; 43(1):77-86. PubMed ID: 18041756
    [Abstract] [Full Text] [Related]

  • 20. 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]

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