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Journal Abstract Search

425 related items for PubMed ID: 20029240

  • 1. Genetic and pathogenetic aspects of Noonan syndrome and related disorders.
    Zenker M.
    Horm Res; 2009 Dec; 72 Suppl 2():57-63. PubMed ID: 20029240
    [Abstract] [Full Text] [Related]

  • 2. Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.
    Tidyman WE, Rauen KA.
    Expert Rev Mol Med; 2008 Dec 09; 10():e37. PubMed ID: 19063751
    [Abstract] [Full Text] [Related]

  • 3. Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
    Ezquieta B, Santomé JL, Carcavilla A, Guillén-Navarro E, Pérez-Aytés A, Sánchez del Pozo J, García-Miñaur S, Castillo E, Alonso M, Vendrell T, Santana A, Maroto E, Galbis L.
    Rev Esp Cardiol (Engl Ed); 2012 May 09; 65(5):447-55. PubMed ID: 22465605
    [Abstract] [Full Text] [Related]

  • 4. [Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway].
    Molven A, Søvik O, von der Lippe C, Steine SJ, Njølstad PR, Houge G, Prescott TE.
    Tidsskr Nor Laegeforen; 2009 Nov 19; 129(22):2358-61. PubMed ID: 19935936
    [Abstract] [Full Text] [Related]

  • 5. Clinical and molecular analysis of RASopathies in a group of Turkish patients.
    Şimşek-Kiper PÖ, Alanay Y, Gülhan B, Lissewski C, Türkyilmaz D, Alehan D, Cetin M, Utine GE, Zenker M, Boduroğlu K.
    Clin Genet; 2013 Feb 19; 83(2):181-6. PubMed ID: 22420426
    [Abstract] [Full Text] [Related]

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  • 8. Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
    Ueda K, Yaoita M, Niihori T, Aoki Y, Okamoto N.
    Am J Med Genet A; 2017 Sep 19; 173(9):2346-2352. PubMed ID: 28650561
    [Abstract] [Full Text] [Related]

  • 9. Deregulated Ras signaling in developmental disorders: new tricks for an old dog.
    Schubbert S, Bollag G, Shannon K.
    Curr Opin Genet Dev; 2007 Feb 19; 17(1):15-22. PubMed ID: 17208427
    [Abstract] [Full Text] [Related]

  • 10. Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.
    Chinton J, Huckstadt V, Moresco A, Gravina LP, Obregon MG.
    Arch Argent Pediatr; 2019 Oct 01; 117(5):330-337. PubMed ID: 31560489
    [Abstract] [Full Text] [Related]

  • 11. Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway.
    Tumurkhuu M, Saitoh M, Sato A, Takahashi K, Mimaki M, Takita J, Takeshita K, Hama T, Oka A, Mizuguchi M.
    Pediatr Int; 2010 Aug 01; 52(4):557-62. PubMed ID: 20030748
    [Abstract] [Full Text] [Related]

  • 12. Clinical manifestations of mutations in RAS and related intracellular signal transduction factors.
    Zenker M.
    Curr Opin Pediatr; 2011 Aug 01; 23(4):443-51. PubMed ID: 21750428
    [Abstract] [Full Text] [Related]

  • 13. Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome.
    Lee ST, Ki CS, Lee HJ.
    Clin Genet; 2007 Aug 01; 72(2):150-5. PubMed ID: 17661820
    [Abstract] [Full Text] [Related]

  • 14. [New findings in Noonan syndrome and Leopard syndrome: activating mutations in RAF-1 and SOS-1].
    Dereure O.
    Ann Dermatol Venereol; 2008 Aug 01; 135(8-9):624-5. PubMed ID: 18789305
    [No Abstract] [Full Text] [Related]

  • 15. [Molecular genetics of congenital anomaly syndromes (RAS/MAPK syndromes) complicated with malignancies].
    Aoki Y, Matsubara Y.
    Rinsho Ketsueki; 2010 Jul 01; 51(7):532-8. PubMed ID: 20693773
    [No Abstract] [Full Text] [Related]

  • 16. Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.
    Lee CL, Tan LTH, Lin HY, Hwu WL, Lee NC, Chien YH, Chuang CK, Wu MH, Wang JK, Chu SY, Lin JL, Lo FS, Su PH, Hsu CC, Ko YY, Chen MR, Chiu HC, Lin SP.
    Am J Med Genet A; 2020 Feb 01; 182(2):357-364. PubMed ID: 31837205
    [Abstract] [Full Text] [Related]

  • 17. Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway.
    Jorge AA, Malaquias AC, Arnhold IJ, Mendonca BB.
    Horm Res; 2009 Feb 01; 71(4):185-93. PubMed ID: 19258709
    [Abstract] [Full Text] [Related]

  • 18. Noonan syndrome: introduction and basic clinical features.
    Rohrer T.
    Horm Res; 2009 Dec 01; 72 Suppl 2():3-7. PubMed ID: 20029230
    [Abstract] [Full Text] [Related]

  • 19. Noonan syndrome and related disorders: alterations in growth and puberty.
    Noonan JA.
    Rev Endocr Metab Disord; 2006 Dec 01; 7(4):251-5. PubMed ID: 17177115
    [Abstract] [Full Text] [Related]

  • 20. Abnormal growth in noonan syndrome: the challenge of optimal therapy.
    Savage MO, Padidela R, Kirk JM, Malaquias AC, Jorge AA.
    Pediatr Endocrinol Rev; 2009 Jun 01; 6 Suppl 4():523-8. PubMed ID: 19550387
    [Abstract] [Full Text] [Related]

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