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Journal Abstract Search

387 related items for PubMed ID: 14608649

  • 1. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.
    Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME, Marazita ML.
    Am J Med Genet A; 2003 Dec 15; 123A(3):267-78. PubMed ID: 14608649
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 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 15; 50():187-200. PubMed ID: 23103552
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  • 4. 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 15; 71(3):280-5. PubMed ID: 22278185
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  • 5. 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
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  • 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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  • 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. 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 15; 47(2):153-61. PubMed ID: 21830319
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  • 10. 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 15; 44(6):521-35. PubMed ID: 19422034
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  • 11. 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 15; 76(3):421-6. PubMed ID: 15657873
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  • 12. 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 15; 28(6):894-9. PubMed ID: 17300129
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  • 13. Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome.
    Bachetti T, Matera I, Borghini S, Di Duca M, Ravazzolo R, Ceccherini I.
    Hum Mol Genet; 2005 Jul 01; 14(13):1815-24. PubMed ID: 15888479
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  • 14. 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 01; 98(1):192-5. PubMed ID: 18798833
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  • 16. Congenital Central Hypoventilation Syndrome due to PHOX2b gene defects: inheritance from asymptomatic parents.
    Hammel M, Klein M, Trips T, Priessmann H, Ankermann T, Holzinger A.
    Klin Padiatr; 2009 Sep 01; 221(5):286-9. PubMed ID: 19707990
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  • 17. 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 01; 160(4):495-498. PubMed ID: 27485184
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  • 19. 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 01; 8(12):e1528. PubMed ID: 33047879
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  • 20. Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear Import.
    Di Lascio S, Belperio D, Benfante R, Fornasari D.
    J Biol Chem; 2016 Jun 17; 291(25):13375-93. PubMed ID: 27129232
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