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Journal Abstract Search

375 related items for PubMed ID: 21373876

  • 1. 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; 170(10):1267-71. PubMed ID: 21373876
    [Abstract] [Full Text] [Related]

  • 2. A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.
    Pace NP, Pace Bardon M, Borg I.
    Mol Genet Genomic Med; 2020 Dec; 8(12):e1528. PubMed ID: 33047879
    [Abstract] [Full Text] [Related]

  • 3. 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
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  • 4. Variable human phenotype associated with novel deletions of the PHOX2B gene.
    Jennings LJ, Yu M, Rand CM, Kravis N, Berry-Kravis EM, Patwari PP, Weese-Mayer DE.
    Pediatr Pulmonol; 2012 Feb 18; 47(2):153-61. PubMed ID: 21830319
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  • 5. PHOX2B mutation in a Taiwanese newborn with congenital central hypoventilation syndrome.
    Wang TC, Su YN, Lai MC.
    Pediatr Neonatol; 2014 Feb 18; 55(1):68-70. PubMed ID: 23597545
    [Abstract] [Full Text] [Related]

  • 6. 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
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  • 7. Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.
    Cain JT, Kim DI, Quast M, Shivega WG, Patrick RJ, Moser C, Reuter S, Perez M, Myers A, Weimer JM, Roux KJ, Landsverk M.
    Am J Med Genet A; 2017 May 15; 173(5):1200-1207. PubMed ID: 28371199
    [Abstract] [Full Text] [Related]

  • 8. Causative and common PHOX2B variants define a broad phenotypic spectrum.
    Bachetti T, Ceccherini I.
    Clin Genet; 2020 Jan 15; 97(1):103-113. PubMed ID: 31444792
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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]

  • 11. Congenital central hypoventilation syndrome with PHOX2B gene mutation in a Taiwanese infant.
    Chen LR, Tsao PN, Su YN, Fan PC, Chou HC, Chen CY, Chang YH, Hsieh WS.
    J Formos Med Assoc; 2007 Jan 15; 106(1):69-73. PubMed ID: 17282973
    [Abstract] [Full Text] [Related]

  • 12. Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in central congenital hyperventilation syndrome patients by multiplex ligation-dependent probe amplification.
    Serra A, Görgens H, Alhadad K, Fitze G, Schackert HK.
    Ann Hum Genet; 2010 Jul 15; 74(4):369-74. PubMed ID: 20456320
    [Abstract] [Full Text] [Related]

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  • 14. PHOX2B: a diagnostic cornerstone in neurocristopathies and neuroblastomas.
    Windels ML, Cordier F, Van Dorpe J, Ferdinande L, Creytens D.
    J Clin Pathol; 2024 May 17; 77(6):378-382. PubMed ID: 38458747
    [Abstract] [Full Text] [Related]

  • 15. Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.
    Di Zanni E, Adamo A, Belligni E, Lerone M, Martucciello G, Mattioli G, Pini Prato A, Ravazzolo R, Silengo M, Bachetti T, Ceccherini I.
    Biochim Biophys Acta Mol Basis Dis; 2017 Jul 17; 1863(7):1770-1777. PubMed ID: 28433712
    [Abstract] [Full Text] [Related]

  • 16. 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 17; 62(9):103541. PubMed ID: 30227298
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  • 18. 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 17; 158A(9):2297-301. PubMed ID: 22821709
    [Abstract] [Full Text] [Related]

  • 19. 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 17; 160(4):495-498. PubMed ID: 27485184
    [Abstract] [Full Text] [Related]

  • 20. 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 17; 50():187-200. PubMed ID: 23103552
    [Abstract] [Full Text] [Related]

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