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435 related items for PubMed ID: 18456719

  • 1. 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; 45(8):500-6. PubMed ID: 18456719
    [Abstract] [Full Text] [Related]

  • 2. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
    Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Héron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cavé H.
    J Med Genet; 2007 Dec; 44(12):763-71. PubMed ID: 17704260
    [Abstract] [Full Text] [Related]

  • 3. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
    Narumi Y, Aoki Y, Niihori T, Neri G, Cavé H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y.
    Am J Med Genet A; 2007 Apr 15; 143A(8):799-807. PubMed ID: 17366577
    [Abstract] [Full Text] [Related]

  • 4. [Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].
    Carcavilla A, García-Miñaúr S, Pérez-Aytés A, Vendrell T, Pinto I, Guillén-Navarro E, González-Meneses A, Aoki Y, Grinberg D, Ezquieta B.
    Med Clin (Barc); 2015 Jan 20; 144(2):67-72. PubMed ID: 25194980
    [Abstract] [Full Text] [Related]

  • 5. Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
    Narumi Y, Aoki Y, Niihori T, Sakurai M, Cavé H, Verloes A, Nishio K, Ohashi H, Kurosawa K, Okamoto N, Kawame H, Mizuno S, Kondoh T, Addor MC, Coeslier-Dieux A, Vincent-Delorme C, Tabayashi K, Aoki M, Kobayashi T, Guliyeva A, Kure S, Matsubara Y.
    J Hum Genet; 2008 Jan 20; 53(9):834-841. PubMed ID: 18651097
    [Abstract] [Full Text] [Related]

  • 6. 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 20; 52(4):557-62. PubMed ID: 20030748
    [Abstract] [Full Text] [Related]

  • 7. Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
    Denayer E, Devriendt K, de Ravel T, Van Buggenhout G, Smeets E, Francois I, Sznajer Y, Craen M, Leventopoulos G, Mutesa L, Vandecasseye W, Massa G, Kayserili H, Sciot R, Fryns JP, Legius E.
    Genes Chromosomes Cancer; 2010 Mar 20; 49(3):242-52. PubMed ID: 19953625
    [Abstract] [Full Text] [Related]

  • 8. Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
    Rodriguez-Viciana P, Rauen KA.
    Methods Enzymol; 2008 Mar 20; 438():277-89. PubMed ID: 18413255
    [Abstract] [Full Text] [Related]

  • 9. Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
    Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M.
    Clin Genet; 2008 Jan 20; 73(1):62-70. PubMed ID: 18042262
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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 09; 83(2):181-6. PubMed ID: 22420426
    [Abstract] [Full Text] [Related]

  • 12. 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 09; 72(2):150-5. PubMed ID: 17661820
    [Abstract] [Full Text] [Related]

  • 13. Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene.
    Makita Y, Narumi Y, Yoshida M, Niihori T, Kure S, Fujieda K, Matsubara Y, Aoki Y.
    J Pediatr Hematol Oncol; 2007 May 09; 29(5):287-90. PubMed ID: 17483702
    [Abstract] [Full Text] [Related]

  • 14. PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
    Ko JM, Kim JM, Kim GH, Yoo HW.
    J Hum Genet; 2008 May 09; 53(11-12):999-1006. PubMed ID: 19020799
    [Abstract] [Full Text] [Related]

  • 15. PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.
    Brasil AS, Pereira AC, Wanderley LT, Kim CA, Malaquias AC, Jorge AA, Krieger JE, Bertola DR.
    Genet Test Mol Biomarkers; 2010 Jun 09; 14(3):425-32. PubMed ID: 20578946
    [Abstract] [Full Text] [Related]

  • 16. No reason yet to change diagnostic criteria for Noonan, Costello and cardio-facio-cutaneous syndromes.
    Neri G, Allanson J, Kavamura MI.
    J Med Genet; 2008 Dec 09; 45(12):832. PubMed ID: 19047498
    [No Abstract] [Full Text] [Related]

  • 17. Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.
    Gripp KW, Lin AE, Nicholson L, Allen W, Cramer A, Jones KL, Kutz W, Peck D, Rebolledo MA, Wheeler PG, Wilson W, Al-Rahawan MM, Stabley DL, Sol-Church K.
    Am J Med Genet A; 2007 Jul 01; 143A(13):1472-80. PubMed ID: 17551924
    [Abstract] [Full Text] [Related]

  • 18. Neurological complications of cardio-facio-cutaneous syndrome.
    Yoon G, Rosenberg J, Blaser S, Rauen KA.
    Dev Med Child Neurol; 2007 Dec 01; 49(12):894-9. PubMed ID: 18039235
    [Abstract] [Full Text] [Related]

  • 19. Familial cardio-facio-cutaneous syndrome: Vertical transmission of the BRAF p.G464R pathogenic variant and review of the literature.
    Rauen KA, Maeda Y, Egense A, Tidyman WE.
    Am J Med Genet A; 2021 Feb 01; 185(2):469-475. PubMed ID: 33274568
    [Abstract] [Full Text] [Related]

  • 20. [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]

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