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Journal Abstract Search

460 related items for PubMed ID: 16873766

  • 21. Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism.
    Bachetti T, Di Duca M, Della Monica M, Grappone L, Scarano G, Ceccherini I.
    Pediatr Pulmonol; 2014 Mar; 49(3):E45-7. PubMed ID: 23460545
    [Abstract] [Full Text] [Related]

  • 22. [Congenital central hypoventilation syndrome, report of three cases].
    Wang Y, He XY, Yang Y, Chen XC.
    Zhonghua Er Ke Za Zhi; 2013 Nov; 51(11):852-5. PubMed ID: 24484562
    [Abstract] [Full Text] [Related]

  • 23. 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
    [Abstract] [Full Text] [Related]

  • 24. 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
    [Abstract] [Full Text] [Related]

  • 25. 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]

  • 26. Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).
    Trochet D, de Pontual L, Estêvao MH, Mathieu Y, Munnich A, Feingold J, Goridis C, Lyonnet S, Amiel J.
    Hum Mutat; 2008 May 18; 29(5):770. PubMed ID: 18407552
    [Abstract] [Full Text] [Related]

  • 27. Sinus vein thrombosis as presenting finding in the congenital central hypoventilation syndrome: an insight on the pathophysiology of the association.
    Joseph L, Goldberg S, Shahroor S, Gomori M, Mimouni FB, Picard E.
    Pediatr Pulmonol; 2011 Aug 18; 46(8):826-8. PubMed ID: 21465679
    [Abstract] [Full Text] [Related]

  • 28. Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children.
    Charnay AJ, Antisdel-Lomaglio JE, Zelko FA, Rand CM, Le M, Gordon SC, Vitez SF, Tse JW, Brogadir CD, Nelson MN, Berry-Kravis EM, Weese-Mayer DE.
    Chest; 2016 Mar 18; 149(3):809-15. PubMed ID: 26378991
    [Abstract] [Full Text] [Related]

  • 29. [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]

  • 30. Congenital central hypoventilation syndrome and the PHOX2B gene mutation.
    Marion TL, Bradshaw WT.
    Neonatal Netw; 2011 Mar 18; 30(6):397-401. PubMed ID: 22052119
    [Abstract] [Full Text] [Related]

  • 31. Peripheral chemoreceptors in congenital central hypoventilation syndrome.
    Perez IA, Keens TG.
    Respir Physiol Neurobiol; 2013 Jan 01; 185(1):186-93. PubMed ID: 23099221
    [Abstract] [Full Text] [Related]

  • 32. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.
    Trochet D, O'Brien LM, Gozal D, Trang H, Nordenskjöld A, Laudier B, Svensson PJ, Uhrig S, Cole T, Niemann S, Munnich A, Gaultier C, Lyonnet S, Amiel J.
    Am J Hum Genet; 2005 Mar 01; 76(3):421-6. PubMed ID: 15657873
    [Abstract] [Full Text] [Related]

  • 33. Characteristics and outcomes in children with congenital central hypoventilation syndrome on long-term mechanical ventilation in the Netherlands.
    Evers-Bikker EE, de Weerd W, Wijkstra PJ, Corel L, Verweij LP, Vosse BAH.
    Eur J Pediatr; 2024 Feb 01; 183(2):791-797. PubMed ID: 38001308
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  • 36. 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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  • 38. Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome.
    Todd ES, Scott NM, Weese-Mayer DE, Weinberg SM, Berry-Kravis EM, Silvestri JM, Kenny AS, Hauptman SA, Zhou L, Marazita ML.
    Pediatrics; 2006 Aug 15; 118(2):e408-14. PubMed ID: 16882781
    [Abstract] [Full Text] [Related]

  • 39. 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
    [Abstract] [Full Text] [Related]

  • 40. Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome.
    Meguro T, Yoshida Y, Hayashi M, Toyota K, Otagiri T, Mochizuki N, Kishikawa Y, Sasaki A, Hayasaka K.
    J Hum Genet; 2012 May 15; 57(5):335-7. PubMed ID: 22437207
    [Abstract] [Full Text] [Related]

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