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Journal Abstract Search

319 related items for PubMed ID: 17282973

  • 21. Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).
    Rand CM, Yu M, Jennings LJ, Panesar K, Berry-Kravis EM, Zhou L, Weese-Mayer DE.
    Am J Med Genet A; 2012 Sep; 158A(9):2297-301. PubMed ID: 22821709
    [Abstract] [Full Text] [Related]

  • 22. 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]

  • 23. 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 15; 98(1):192-5. PubMed ID: 18798833
    [Abstract] [Full Text] [Related]

  • 24. Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Gene Non-Polyalanine Repeat Mutation.
    Kasi AS, Jurgensen TJ, Yen S, Kun SS, Keens TG, Perez IA.
    J Clin Sleep Med; 2017 Jul 15; 13(7):925-927. PubMed ID: 28633714
    [Abstract] [Full Text] [Related]

  • 25. A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.
    Amimoto Y, Okada K, Nakano H, Sasaki A, Hayasaka K, Odajima H.
    J Clin Sleep Med; 2014 Mar 15; 10(3):327-9. PubMed ID: 24634632
    [Abstract] [Full Text] [Related]

  • 26. Hyperthyroidism hidden by congenital central hypoventilation syndrome.
    Fox DA, Weese-Mayer DE, Wensley DF, Stewart LL.
    J Pediatr Endocrinol Metab; 2015 May 15; 28(5-6):705-8. PubMed ID: 25581741
    [Abstract] [Full Text] [Related]

  • 27. Characteristics and outcomes in children with congenital central hypoventilation syndrome on long-term mechanical ventilation in the Netherlands.
    Evers-Bikker EE, de Weerd W, Wijkstra PJ, Corel L, Verweij LP, Vosse BAH.
    Eur J Pediatr; 2024 Feb 15; 183(2):791-797. PubMed ID: 38001308
    [Abstract] [Full Text] [Related]

  • 28. 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]

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

  • 30. Congenital central hypoventilation syndrome: diagnosis and management.
    Maloney MA, Kun SS, Keens TG, Perez IA.
    Expert Rev Respir Med; 2018 Apr 15; 12(4):283-292. PubMed ID: 29486608
    [Abstract] [Full Text] [Related]

  • 31. Haddad syndrome: a case of an infant with central congenital hypoventilation syndrome and Hirschsprung disease.
    Lai D, Schroer B.
    J Child Neurol; 2008 Mar 15; 23(3):341-3. PubMed ID: 18230845
    [Abstract] [Full Text] [Related]

  • 32. 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 15; 42(2):e9-11. PubMed ID: 17270534
    [Abstract] [Full Text] [Related]

  • 33. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.
    Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME, Marazita ML.
    Am J Med Genet A; 2003 Dec 15; 123A(3):267-78. PubMed ID: 14608649
    [Abstract] [Full Text] [Related]

  • 34. 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]

  • 35. Variable phenotypes in congenital central hypoventilation syndrome with PHOX2B nonpolyalanine repeat mutations.
    Kasi AS, Li H, Jurgensen TJ, Guglani L, Keens TG, Perez IA.
    J Clin Sleep Med; 2021 Oct 01; 17(10):2049-2055. PubMed ID: 33983112
    [Abstract] [Full Text] [Related]

  • 36. 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]

  • 37. 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
    [Abstract] [Full Text] [Related]

  • 38. Haddad syndrome with PHOX2B gene mutation in a Korean infant.
    Lee CW, Lee JH, Jung EY, Choi SO, Kim CS, Lee SL, Kim DK.
    J Korean Med Sci; 2011 Feb 15; 26(2):312-5. PubMed ID: 21286029
    [Abstract] [Full Text] [Related]

  • 39. 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]

  • 40. Anesthetic Considerations for Patients With Congenital Central Hypoventilation Syndrome: A Systematic Review of the Literature.
    Basu SM, Chung FF, AbdelHakim SF, Wong J.
    Anesth Analg; 2017 Jan 15; 124(1):169-178. PubMed ID: 27918326
    [Abstract] [Full Text] [Related]

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