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Journal Abstract Search

1077 related items for PubMed ID: 17704260

  • 1. 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
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  • 2. 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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  • 4. 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
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  • 6. 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 15; 45(8):500-6. PubMed ID: 18456719
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  • 7. 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 15; 29(5):287-90. PubMed ID: 17483702
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  • 10. Costello syndrome and related disorders.
    Quezada E, Gripp KW.
    Curr Opin Pediatr; 2007 Dec 15; 19(6):636-44. PubMed ID: 18025929
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  • 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 15; 83(2):181-6. PubMed ID: 22420426
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  • 12. 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 15; 38(3):294-6. PubMed ID: 16474404
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  • 16. Cardio-facio-cutaneous syndrome: phenotypic variability and differential diagnosis in 3 cases with de novo BRAF mutations.
    Demir E, Mancano G, Pomponi MG, Ozcelik A, Gucuyener K, Neri G.
    Neuropediatrics; 2010 Jun 15; 41(3):127-31. PubMed ID: 20859831
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  • 17. [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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