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642 related items for PubMed ID: 23460419

  • 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. Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations.
    Heide S, Masliah-Planchon J, Isidor B, Guimier A, Bodet D, Coze C, Deville A, Thebault E, Pasquier CJ, Cassagnau E, Pierron G, Clément N, Schleiermacher G, Amiel J, Delattre O, Peuchmaur M, Bourdeaut F.
    Pediatr Blood Cancer; 2016 Jan; 63(1):71-7. PubMed ID: 26375764
    [Abstract] [Full Text] [Related]

  • 23. Genetic study of a patient with congenital central hypoventilation syndrome in Iran: a case report.
    Khorasanian R, Mojbafan M, Khosravi N.
    Mol Biol Rep; 2021 Dec; 48(12):8239-8243. PubMed ID: 34626313
    [Abstract] [Full Text] [Related]

  • 24. 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; 149(3):809-15. PubMed ID: 26378991
    [Abstract] [Full Text] [Related]

  • 25. PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood.
    Antic NA, Malow BA, Lange N, McEvoy RD, Olson AL, Turkington P, Windisch W, Samuels M, Stevens CA, Berry-Kravis EM, Weese-Mayer DE.
    Am J Respir Crit Care Med; 2006 Oct 15; 174(8):923-7. PubMed ID: 16873766
    [Abstract] [Full Text] [Related]

  • 26. 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
    [Abstract] [Full Text] [Related]

  • 27. Adult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis.
    Hino A, Terada J, Kasai H, Shojima H, Ohgino K, Sasaki A, Hayasaka K, Tatsumi K.
    J Clin Sleep Med; 2020 Nov 15; 16(11):1891-1900. PubMed ID: 32741443
    [Abstract] [Full Text] [Related]

  • 28. 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
    [Abstract] [Full Text] [Related]

  • 29. Adult With PHOX2B Mutation and Late-Onset Congenital Central Hypoventilation Syndrome.
    Kasi AS, Kun SS, Keens TG, Perez IA.
    J Clin Sleep Med; 2018 Dec 15; 14(12):2079-2081. PubMed ID: 30518452
    [Abstract] [Full Text] [Related]

  • 30. Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Gene Non-Polyalanine Repeat Mutation.
    Kasi AS, Jurgensen TJ, Yen S, Kun SS, Keens TG, Perez IA.
    J Clin Sleep Med; 2017 Jul 15; 13(7):925-927. PubMed ID: 28633714
    [Abstract] [Full Text] [Related]

  • 31. 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 Jul 15; 54(5):519-22. PubMed ID: 23427517
    [Abstract] [Full Text] [Related]

  • 32. Novel PHOX2B mutations in congenital central hypoventilation syndrome.
    Sasaki A, Kishikawa Y, Imaji R, Fukushima Y, Nakamura Y, Nishimura Y, Yamada M, Mino Y, Mitsui T, Hayasaka K.
    Pediatr Int; 2019 Apr 15; 61(4):393-396. PubMed ID: 30786110
    [Abstract] [Full Text] [Related]

  • 33. 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]

  • 34. 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
    [Abstract] [Full Text] [Related]

  • 35. 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]

  • 36. 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 18; 19(4):224-31. PubMed ID: 21051998
    [Abstract] [Full Text] [Related]

  • 37. Haddad syndrome: a case of an infant with central congenital hypoventilation syndrome and Hirschsprung disease.
    Lai D, Schroer B.
    J Child Neurol; 2008 Mar 18; 23(3):341-3. PubMed ID: 18230845
    [Abstract] [Full Text] [Related]

  • 38. Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation.
    Meylemans A, Depuydt P, De Baere E, Hertegonne K, Derom E, Dermaut B, Hemelsoet D.
    Acta Neurol Belg; 2021 Feb 18; 121(1):23-35. PubMed ID: 32335870
    [Abstract] [Full Text] [Related]

  • 39. 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 18; 106(1):69-73. PubMed ID: 17282973
    [Abstract] [Full Text] [Related]

  • 40. 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 18; 8(12):e1528. PubMed ID: 33047879
    [Abstract] [Full Text] [Related]

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