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Journal Abstract Search

609 related items for PubMed ID: 18230845

  • 1. 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]

  • 2. 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. 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. 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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  • 6. 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; 98(1):192-5. PubMed ID: 18798833
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  • 7. 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; 26(2):312-5. PubMed ID: 21286029
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  • 8. 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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  • 9. 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 Nov; 8(2):165-8. PubMed ID: 26410442
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  • 10. 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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  • 11. 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
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  • 12. Heterozygous 24-polyalanine repeats in the PHOX2B gene with different manifestations across three generations.
    Chuen-im P, Marwan S, Carter J, Kemp J, Rivera-Spoljaric K.
    Pediatr Pulmonol; 2014 Feb 15; 49(2):E13-6. PubMed ID: 23460419
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  • 13. 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 15; 23(7):829-31. PubMed ID: 18658083
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  • 14. 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
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  • 16. Congenital central hypoventilation syndrome (CCHS) with Hirschsprung disease (Haddad syndrome): an unusual cause of reduced baseline variability of the fetal heart rate.
    Majumdar S, Wood P.
    J Obstet Gynaecol; 2009 Feb 15; 29(2):152-3. PubMed ID: 19274556
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  • 18. PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature.
    Kwon MJ, Lee GH, Lee MK, Kim JY, Yoo HS, Ki CS, Chang YS, Kim JW, Park WS.
    Eur J Pediatr; 2011 Oct 15; 170(10):1267-71. PubMed ID: 21373876
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  • 19. Congenital central hypoventilation syndrome with PHOX2B gene mutation.
    Lingappa L, Panigrahi NK, Chirla DK, Burton-Jones S, Williams MM.
    Indian J Pediatr; 2012 Nov 15; 79(11):1526-8. PubMed ID: 22674249
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