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Journal Abstract Search


299 related items for PubMed ID: 23045564

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review.
    Sandoval RL, Zaconeta CM, Margotto PR, Cardoso MT, França EM, Medina CT, Canó TM, Faria AS.
    Rev Paul Pediatr; 2016 Sep 18; 34(3):374-8. PubMed ID: 26838603
    [Abstract] [Full Text] [Related]

  • 7. 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 Sep 18; 8(2):165-8. PubMed ID: 26410442
    [Abstract] [Full Text] [Related]

  • 8. Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant.
    Bajaj R, Smith J, Trochet D, Pitkin J, Ouvrier R, Graf N, Sillence D, Kluckow M.
    Pediatrics; 2005 Jun 18; 115(6):e737-8. PubMed ID: 15930201
    [Abstract] [Full Text] [Related]

  • 9. Congenital Tonic Pupils Associated With Congenital Central Hypoventilation Syndrome and Hirschsprung Disease.
    Mehta VJ, Ling JJ, Martinez EG, Reddy AC, Donahue SP.
    J Neuroophthalmol; 2016 Dec 18; 36(4):414-416. PubMed ID: 27340804
    [Abstract] [Full Text] [Related]

  • 10. Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome.
    Di Lascio S, Bachetti T, Saba E, Ceccherini I, Benfante R, Fornasari D.
    Neurobiol Dis; 2013 Feb 18; 50():187-200. PubMed ID: 23103552
    [Abstract] [Full Text] [Related]

  • 11. [The congenital central hypoventilation syndrome (CCHS): a late presentation].
    Lamon T, Pontier S, Têtu L, Riviere D, Didier A.
    Rev Mal Respir; 2012 Mar 18; 29(3):426-9. PubMed ID: 22440308
    [Abstract] [Full Text] [Related]

  • 12. Haddad syndrome presenting with abdominal distension associated with long-segment aganglionosis.
    Chung WD, Lim GY, Kim SY, Chung JH, Kim SJ.
    Clin Imaging; 2012 Mar 18; 36(2):149-52. PubMed ID: 22370137
    [Abstract] [Full Text] [Related]

  • 13. 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 18; 71(3):280-5. PubMed ID: 22278185
    [Abstract] [Full Text] [Related]

  • 14. 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 18; 29(2):152-3. PubMed ID: 19274556
    [No Abstract] [Full Text] [Related]

  • 15. 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 18; 170(10):1267-71. PubMed ID: 21373876
    [Abstract] [Full Text] [Related]

  • 16. 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 18; 98(1):192-5. PubMed ID: 18798833
    [Abstract] [Full Text] [Related]

  • 17. [Congenital central hypoventilation syndrome: analysis of PHOX2B gene mutation in a case].
    Yan Y, Yi B, Liu D, Zhao F, Zhang C, Chen X, Hao S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Oct 18; 32(5):665-9. PubMed ID: 26418987
    [Abstract] [Full Text] [Related]

  • 18. Haddad syndrome: a case study.
    Shuman L, Youmans D.
    Neonatal Netw; 2005 Oct 18; 24(4):41-4. PubMed ID: 16117243
    [Abstract] [Full Text] [Related]

  • 19. Hyperthyroidism hidden by congenital central hypoventilation syndrome.
    Fox DA, Weese-Mayer DE, Wensley DF, Stewart LL.
    J Pediatr Endocrinol Metab; 2015 May 18; 28(5-6):705-8. PubMed ID: 25581741
    [Abstract] [Full Text] [Related]

  • 20. Congenital central hypoventilation syndrome: a case report.
    Crowell BA, Bissinger RL, Conway-Orgel M.
    Adv Neonatal Care; 2011 Jun 18; 11(3):167-72. PubMed ID: 21730909
    [Abstract] [Full Text] [Related]


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