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Journal Abstract Search

621 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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  • 3. 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
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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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  • 10. A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease.
    Jones KL, Pivnick EK, Hines-Dowell S, Weese-Mayer DE, Berry-Kravis EM, Santiago T, Nnorom C, Pourcyrous M.
    Pediatrics; 2012 Nov; 130(5):e1382-4. PubMed ID: 23045564
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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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  • 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; 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; 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; 28(6):894-9. PubMed ID: 17300129
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  • 17. 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; 71(3):280-5. PubMed ID: 22278185
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  • 18. PHOX2B mutation in a Taiwanese newborn with congenital central hypoventilation syndrome.
    Wang TC, Su YN, Lai MC.
    Pediatr Neonatol; 2014 Feb; 55(1):68-70. PubMed ID: 23597545
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  • 19. [Ondine syndrome or central congenital hypoventilation syndrome].
    Trang H.
    Rev Prat; 2006 Jan 31; 56(2):125-8. PubMed ID: 16584036
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  • 20. 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 31; 26(2):312-5. PubMed ID: 21286029
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