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Journal Abstract Search

460 related items for PubMed ID: 16873766

  • 1.
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  • 2. 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
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  • 3. 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
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  • 4. Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.
    Weese-Mayer DE, Rand CM, Berry-Kravis EM, Jennings LJ, Loghmanee DA, Patwari PP, Ceccherini I.
    Pediatr Pulmonol; 2009 Jun; 44(6):521-35. PubMed ID: 19422034
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  • 5. 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
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  • 6. [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; 32(5):665-9. PubMed ID: 26418987
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  • 8. 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; 54(5):519-22. PubMed ID: 23427517
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  • 9. PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.
    Trochet D, de Pontual L, Straus C, Gozal D, Trang H, Landrieu P, Munnich A, Lyonnet S, Gaultier C, Amiel J.
    Am J Respir Crit Care Med; 2008 Apr 15; 177(8):906-11. PubMed ID: 18079495
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  • 10. PHOX2B gene mutation in a patient with late-onset central hypoventilation.
    Trang H, Laudier B, Trochet D, Munnich A, Lyonnet S, Gaultier C, Amiel J.
    Pediatr Pulmonol; 2004 Oct 15; 38(4):349-51. PubMed ID: 15334515
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  • 11. PHOX2B mutation in a Taiwanese newborn with congenital central hypoventilation syndrome.
    Wang TC, Su YN, Lai MC.
    Pediatr Neonatol; 2014 Feb 15; 55(1):68-70. PubMed ID: 23597545
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  • 13. 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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  • 15. Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers.
    Jennings LJ, Yu M, Zhou L, Rand CM, Berry-Kravis EM, Weese-Mayer DE.
    Diagn Mol Pathol; 2010 Dec 15; 19(4):224-31. PubMed ID: 21051998
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  • 16. 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 15; 160(4):495-498. PubMed ID: 27485184
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  • 18. PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome.
    Or SF, Tong MF, Lo FM, Law CW, Miu TY, Trochet D, Lam TS.
    Chin Med J (Engl); 2006 Oct 20; 119(20):1749-52. PubMed ID: 17097025
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  • 19. 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 20; 158A(9):2297-301. PubMed ID: 22821709
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  • 20. Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome.
    Cross SH, Morgan JE, Pattyn A, West K, McKie L, Hart A, Thaung C, Brunet JF, Jackson IJ.
    Hum Mol Genet; 2004 Jul 15; 13(14):1433-9. PubMed ID: 15150159
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