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Journal Abstract Search

400 related items for PubMed ID: 25581741

  • 1.
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  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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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  • 4. 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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  • 6. Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation.
    Schirwani S, Pysden K, Chetcuti P, Blyth M.
    J Clin Sleep Med; 2017 Nov 15; 13(11):1359-1362. PubMed ID: 28992836
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  • 8. Atypical presentations associated with non-polyalanine repeat PHOX2B mutations.
    Katwa U, D'Gama AM, Qualls AE, Donovan LM, Heffernan J, Shi J, Agrawal PB.
    Am J Med Genet A; 2018 Jul 15; 176(7):1627-1631. PubMed ID: 29704303
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  • 9. Congenital central hypoventilation syndrome: a neurocristopathy with disordered respiratory control and autonomic regulation.
    Rand CM, Carroll MS, Weese-Mayer DE.
    Clin Chest Med; 2014 Sep 15; 35(3):535-45. PubMed ID: 25156769
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  • 10. Congenital central hypoventilation syndrome: a case report.
    Crowell BA, Bissinger RL, Conway-Orgel M.
    Adv Neonatal Care; 2011 Jun 15; 11(3):167-72. PubMed ID: 21730909
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  • 11. Life-threatening cardiac arrhythmias in congenital central hypoventilation syndrome.
    Laifman E, Keens TG, Bar-Cohen Y, Perez IA.
    Eur J Pediatr; 2020 May 15; 179(5):821-825. PubMed ID: 31950261
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  • 13. 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
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  • 14. 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
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  • 15. 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
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  • 17. 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 Oct 01; 54(5):519-22. PubMed ID: 23427517
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  • 18. Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members.
    Sivan Y, Zhou A, Jennings LJ, Berry-Kravis EM, Yu M, Zhou L, Rand CM, Weese-Mayer DE.
    Am J Med Genet A; 2019 Mar 01; 179(3):503-506. PubMed ID: 30672101
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  • 20. Residual chemosensitivity to ventilatory challenges in genotyped congenital central hypoventilation syndrome.
    Carroll MS, Patwari PP, Kenny AS, Brogadir CD, Stewart TM, Weese-Mayer DE.
    J Appl Physiol (1985); 2014 Feb 15; 116(4):439-50. PubMed ID: 24381123
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