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Journal Abstract Search

609 related items for PubMed ID: 18230845

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

  • 22. A novel 17 bp deletion in the PHOX2B gene causes congenital central hypoventilation syndrome with total aganglionosis of the small and large intestine.
    Holzinger A, Mittal RA, Kachel W, Priessmann H, Hammel M, Ihrler S, Till H, Münch HG.
    Am J Med Genet A; 2005 Nov 15; 139(1):50-1. PubMed ID: 16222683
    [No Abstract] [Full Text] [Related]

  • 23. Congenital central hypoventilation syndrome with PHOX2B gene mutation in a Taiwanese infant.
    Chen LR, Tsao PN, Su YN, Fan PC, Chou HC, Chen CY, Chang YH, Hsieh WS.
    J Formos Med Assoc; 2007 Jan 15; 106(1):69-73. PubMed ID: 17282973
    [Abstract] [Full Text] [Related]

  • 24. 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]

  • 25. A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.
    Pace NP, Pace Bardon M, Borg I.
    Mol Genet Genomic Med; 2020 Dec 15; 8(12):e1528. PubMed ID: 33047879
    [Abstract] [Full Text] [Related]

  • 26. 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
    [Abstract] [Full Text] [Related]

  • 27. Haddad syndrome presenting with abdominal distension associated with long-segment aganglionosis.
    Chung WD, Lim GY, Kim SY, Chung JH, Kim SJ.
    Clin Imaging; 2012 Feb 15; 36(2):149-52. PubMed ID: 22370137
    [Abstract] [Full Text] [Related]

  • 28. 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]

  • 29. Hyperthyroidism hidden by congenital central hypoventilation syndrome.
    Fox DA, Weese-Mayer DE, Wensley DF, Stewart LL.
    J Pediatr Endocrinol Metab; 2015 May 10; 28(5-6):705-8. PubMed ID: 25581741
    [Abstract] [Full Text] [Related]

  • 30. Haddad syndrome novel association with BRAF mutation.
    Al Dakhoul S.
    J Neonatal Perinatal Med; 2017 May 10; 10(4):455-457. PubMed ID: 29286936
    [Abstract] [Full Text] [Related]

  • 31. 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]

  • 32. Male infant with shallow respirations.
    Listernick R.
    Pediatr Ann; 2011 Oct 10; 40(10):476-9. PubMed ID: 21973038
    [No Abstract] [Full Text] [Related]

  • 33. Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease.
    Paglietti MG, Cherchi C, Porcaro F, Agolini E, Schiavino A, Petreschi F, Novelli A, Cutrera R.
    Ital J Pediatr; 2019 Apr 18; 45(1):49. PubMed ID: 30999961
    [Abstract] [Full Text] [Related]

  • 34. Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?
    Nirupam N, Sharma R, Chhapola V, Kanwal SK, Berry-Kravis EM, Kumar V.
    Indian J Pediatr; 2013 Aug 18; 80(8):688-90. PubMed ID: 22829249
    [Abstract] [Full Text] [Related]

  • 35. Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome.
    Todd ES, Scott NM, Weese-Mayer DE, Weinberg SM, Berry-Kravis EM, Silvestri JM, Kenny AS, Hauptman SA, Zhou L, Marazita ML.
    Pediatrics; 2006 Aug 18; 118(2):e408-14. PubMed ID: 16882781
    [Abstract] [Full Text] [Related]

  • 36. Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease.
    Fitze G, König IR, Paditz E, Serra A, Schläfke M, Roesner D, Ziegler A, Schackert HK.
    Am J Med Genet A; 2008 Jun 01; 146A(11):1486-9. PubMed ID: 18438890
    [No Abstract] [Full Text] [Related]

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