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Journal Abstract Search

378 related items for PubMed ID: 17270534

  • 1. 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
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  • 4. 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 Feb; 54(5):519-22. PubMed ID: 23427517
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  • 5. Congenital central hypoventilation syndrome and the PHOX2B gene mutation.
    Marion TL, Bradshaw WT.
    Neonatal Netw; 2011 Feb; 30(6):397-401. PubMed ID: 22052119
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  • 7. 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 Feb; 16(2):202-8. PubMed ID: 19813116
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  • 8. A novel PHOX2B gene mutation in an extremely low birth weight infant with congenital central hypoventilation syndrome and variant Hirschsprung's disease.
    Miura Y, Watanabe T, Uchida T, Nawa T, Endo N, Fukuzawa T, Ohkubo R, Takeyama J, Sasaki A, Hayasaka K.
    Eur J Med Genet; 2019 Sep; 62(9):103541. PubMed ID: 30227298
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  • 9. Case report of Haddad syndrome in a newborn: congenital central hypoventilation syndrome and Hirschsprung's disease.
    Dejhalla M, Parton P, Golombek SG.
    J Perinatol; 2006 Apr; 26(4):259-60. PubMed ID: 16570083
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  • 11. 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; 44(6):521-35. PubMed ID: 19422034
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  • 12. Congenital hypoventilation syndrome and Hirschsprung's disease - Haddad syndrome: A neonatal case presentation.
    Jaiyeola P, El-Metwally D, Viscardi R, Greene C, Woo H.
    J Neonatal Perinatal Med; 2015 Jun; 8(2):165-8. PubMed ID: 26410442
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  • 13. 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
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  • 14. 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
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  • 15. Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in central congenital hyperventilation syndrome patients by multiplex ligation-dependent probe amplification.
    Serra A, Görgens H, Alhadad K, Fitze G, Schackert HK.
    Ann Hum Genet; 2010 Jul 10; 74(4):369-74. PubMed ID: 20456320
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  • 16. 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
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