These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

271 related items for PubMed ID: 23059812

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

  • 22. [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]

  • 23. Genotype and phenotype spectrum of NRAS germline variants.
    Altmüller F, Lissewski C, Bertola D, Flex E, Stark Z, Spranger S, Baynam G, Buscarilli M, Dyack S, Gillis J, Yntema HG, Pantaleoni F, van Loon RL, MacKay S, Mina K, Schanze I, Tan TY, Walsh M, White SM, Niewisch MR, García-Miñaúr S, Plaza D, Ahmadian MR, Cavé H, Tartaglia M, Zenker M.
    Eur J Hum Genet; 2017 Jun 19; 25(7):823-831. PubMed ID: 28594414
    [Abstract] [Full Text] [Related]

  • 24. [A new "rasopathy": mutation in the CBL tumour-suppressor gene in neuro-cardio-facio-cutaneous syndrome similar to Noonan syndrome].
    Dereure O.
    Ann Dermatol Venereol; 2011 Jan 19; 138(1):75-6. PubMed ID: 21276471
    [No Abstract] [Full Text] [Related]

  • 25. Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: developmental consequences of germline Ras/MAPK activation on myogenesis.
    Tidyman WE, Lee HS, Rauen KA.
    Am J Med Genet C Semin Med Genet; 2011 May 15; 157C(2):104-14. PubMed ID: 21495178
    [Abstract] [Full Text] [Related]

  • 26. Orthopaedic conditions in Ras/MAPK related disorders.
    Reinker KA, Stevenson DA, Tsung A.
    J Pediatr Orthop; 2011 May 15; 31(5):599-605. PubMed ID: 21654472
    [Abstract] [Full Text] [Related]

  • 27. Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.
    Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Rauen KA, Seidenberg MS.
    Am J Med Genet A; 2010 Mar 15; 152A(3):591-600. PubMed ID: 20186801
    [Abstract] [Full Text] [Related]

  • 28. 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 15; 52(4):557-62. PubMed ID: 20030748
    [Abstract] [Full Text] [Related]

  • 29. NRAS associated RASopathy and embryonal rhabdomyosarcoma.
    Garren B, Stephan M, Hogue JS.
    Am J Med Genet A; 2020 Jan 15; 182(1):195-200. PubMed ID: 31697451
    [Abstract] [Full Text] [Related]

  • 30. New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.
    Inoue S, Moriya M, Watanabe Y, Miyagawa-Tomita S, Niihori T, Oba D, Ono M, Kure S, Ogura T, Matsubara Y, Aoki Y.
    Hum Mol Genet; 2014 Dec 15; 23(24):6553-66. PubMed ID: 25035421
    [Abstract] [Full Text] [Related]

  • 31. Ras/MAPK dysregulation in development causes a skeletal myopathy in an activating BrafL597V mouse model for cardio-facio-cutaneous syndrome.
    Maeda Y, Tidyman WE, Ander BP, Pritchard CA, Rauen KA.
    Dev Dyn; 2021 Aug 15; 250(8):1074-1095. PubMed ID: 33522658
    [Abstract] [Full Text] [Related]

  • 32. An unexpected new role of mutant Ras: perturbation of human embryonic development.
    Kratz CP, Niemeyer CM, Zenker M.
    J Mol Med (Berl); 2007 Mar 15; 85(3):227-35. PubMed ID: 17211612
    [Abstract] [Full Text] [Related]

  • 33. Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.
    Leung GKC, Luk HM, Tang VHM, Gao WW, Mak CCY, Yu MHC, Wong WL, Chu YWY, Yang WL, Wong WHS, Ma ACH, Leung AYH, Jin DY, Chan KYK, Allanson J, Lo IFM, Chung BHY.
    Sci Rep; 2018 Feb 05; 8(1):2421. PubMed ID: 29402968
    [Abstract] [Full Text] [Related]

  • 34. Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
    Nyström AM, Ekvall S, Berglund E, Björkqvist M, Braathen G, Duchen K, Enell H, Holmberg E, Holmlund U, Olsson-Engman M, Annerén G, Bondeson ML.
    J Med Genet; 2008 Aug 05; 45(8):500-6. PubMed ID: 18456719
    [Abstract] [Full Text] [Related]

  • 35. [Mutagenic effect of advanced paternal age in neurocardiofaciocutaneous syndrome].
    Seemanová E, Zenker M.
    Cas Lek Cesk; 2014 Aug 05; 153(5):242-5. PubMed ID: 25370770
    [Abstract] [Full Text] [Related]

  • 36. Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome.
    Champion KJ, Bunag C, Estep AL, Jones JR, Bolt CH, Rogers RC, Rauen KA, Everman DB.
    Clin Genet; 2011 May 05; 79(5):468-74. PubMed ID: 20735442
    [Abstract] [Full Text] [Related]

  • 37. Germline KRAS mutations cause Noonan syndrome.
    Schubbert S, Zenker M, Rowe SL, Böll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP.
    Nat Genet; 2006 Mar 05; 38(3):331-6. PubMed ID: 16474405
    [Abstract] [Full Text] [Related]

  • 38. The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
    Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y.
    Hum Mutat; 2008 Aug 05; 29(8):992-1006. PubMed ID: 18470943
    [Abstract] [Full Text] [Related]

  • 39. A cardio-facio-cutaneous syndrome case with tight Achilles tendons.
    Hazan F, Aykut A, Hizarcioglu M, Tavli V, Onay H, Ozkinay F.
    Genet Couns; 2012 Aug 05; 23(2):305-11. PubMed ID: 22876591
    [Abstract] [Full Text] [Related]

  • 40. 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 05; 72(2):150-5. PubMed ID: 17661820
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 14.