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Journal Abstract Search

381 related items for PubMed ID: 23460419

  • 1. 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; 49(2):E13-6. PubMed ID: 23460419
    [Abstract] [Full Text] [Related]

  • 2. 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; 50():187-200. PubMed ID: 23103552
    [Abstract] [Full Text] [Related]

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

  • 4. Congenital central hypoventilation syndrome with PHOX2B gene mutation.
    Lingappa L, Panigrahi NK, Chirla DK, Burton-Jones S, Williams MM.
    Indian J Pediatr; 2012 Nov; 79(11):1526-8. PubMed ID: 22674249
    [Abstract] [Full Text] [Related]

  • 5. Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene.
    Klaskova E, Drabek J, Hobzova M, Smolka V, Seda M, Hyjanek J, Slavkovsky R, Stranska J, Prochazka M.
    Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2016 Dec; 160(4):495-498. PubMed ID: 27485184
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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; 179(3):503-506. PubMed ID: 30672101
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
    Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE.
    Am J Respir Crit Care Med; 2006 Nov 15; 174(10):1139-44. PubMed ID: 16888290
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Congenital central hypoventilation syndrome.
    Ramanantsoa N, Gallego J.
    Respir Physiol Neurobiol; 2013 Nov 01; 189(2):272-9. PubMed ID: 23692929
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Congenital central hypoventilation syndrome and the PHOX2B gene mutation.
    Marion TL, Bradshaw WT.
    Neonatal Netw; 2011 Nov 15; 30(6):397-401. PubMed ID: 22052119
    [Abstract] [Full Text] [Related]

  • 15. Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).
    Rand CM, Yu M, Jennings LJ, Panesar K, Berry-Kravis EM, Zhou L, Weese-Mayer DE.
    Am J Med Genet A; 2012 Sep 15; 158A(9):2297-301. PubMed ID: 22821709
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. [Congenital central hypoventilation syndrome: paradigm shifts and future prospects].
    Hayasaka K, Sasaki A.
    Nihon Rinsho; 2014 Feb 15; 72(2):363-70. PubMed ID: 24605541
    [Abstract] [Full Text] [Related]

  • 18. Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?
    Nirupam N, Sharma R, Chhapola V, Kanwal SK, Berry-Kravis EM, Kumar V.
    Indian J Pediatr; 2013 Aug 15; 80(8):688-90. PubMed ID: 22829249
    [Abstract] [Full Text] [Related]

  • 19. Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center.
    Lee MJ, Park JS, Kim K, Ko JM, Park JD, Suh DI.
    Eur J Pediatr; 2024 Aug 15; 183(8):3479-3487. PubMed ID: 38780650
    [Abstract] [Full Text] [Related]

  • 20. [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 15; 32(5):665-9. PubMed ID: 26418987
    [Abstract] [Full Text] [Related]

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