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Journal Abstract Search

488 related items for PubMed ID: 18025929

  • 1.
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  • 3. 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
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  • 4. 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
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  • 5. 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 09; 52(4):557-62. PubMed ID: 20030748
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  • 6. 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 09; 73(1):62-70. PubMed ID: 18042262
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  • 7. 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
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  • 8. [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
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  • 9. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
    Niihori T, Aoki Y, Narumi Y, Neri G, Cavé H, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, Kure S, Matsubara Y.
    Nat Genet; 2006 Mar 19; 38(3):294-6. PubMed ID: 16474404
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  • 10. 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 19; 29(5):287-90. PubMed ID: 17483702
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  • 11. [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
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  • 12. Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.
    Gripp KW, Lin AE.
    Genet Med; 2012 Mar 20; 14(3):285-92. PubMed ID: 22261753
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  • 13. Two novel germline KRAS mutations: expanding the molecular and clinical phenotype.
    Stark Z, Gillessen-Kaesbach G, Ryan MM, Cirstea IC, Gremer L, Ahmadian MR, Savarirayan R, Zenker M.
    Clin Genet; 2012 Jun 20; 81(6):590-4. PubMed ID: 21797849
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  • 14. The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes.
    Bezniakow N, Gos M, Obersztyn E.
    Dev Period Med; 2014 Jun 20; 18(3):285-96. PubMed ID: 25182392
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  • 15. An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
    Gripp KW, Sol-Church K, Smpokou P, Graham GE, Stevenson DA, Hanson H, Viskochil DH, Baker LC, Russo B, Gardner N, Stabley DL, Kolbe V, Rosenberger G.
    Am J Med Genet A; 2015 Sep 20; 167A(9):2085-97. PubMed ID: 25914166
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  • 16. Costello syndrome: clinical diagnosis in the first year of life.
    Digilio MC, Sarkozy A, Capolino R, Chiarini Testa MB, Esposito G, de Zorzi A, Cutrera R, Marino B, Dallapiccola B.
    Eur J Pediatr; 2008 Jun 20; 167(6):621-8. PubMed ID: 17726614
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  • 17. 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
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  • 18. HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
    Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA.
    Am J Med Genet A; 2006 Jan 01; 140(1):8-16. PubMed ID: 16372351
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  • 19. De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.
    Søvik O, Schubbert S, Houge G, Steine SJ, Norgård G, Engelsen B, Njølstad PR, Shannon K, Molven A.
    J Med Genet; 2007 Jul 01; 44(7):e84. PubMed ID: 17601930
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  • 20. Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.
    Lorenz S, Lissewski C, Simsek-Kiper PO, Alanay Y, Boduroglu K, Zenker M, Rosenberger G.
    Hum Mol Genet; 2013 Apr 15; 22(8):1643-53. PubMed ID: 23335589
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