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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

143 related articles for article (PubMed ID: 17567882)

  • 1. Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.
    Al-Rahawan MM; Chute DJ; Sol-Church K; Gripp KW; Stabley DL; McDaniel NL; Wilson WG; Waldron PE
    Am J Med Genet A; 2007 Jul; 143A(13):1481-8. PubMed ID: 17567882
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 143A(13):1472-80. PubMed ID: 17551924
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 143A(8):799-807. PubMed ID: 17366577
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 73(1):62-70. PubMed ID: 18042262
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 29(5):287-90. PubMed ID: 17483702
    [TBL] [Abstract][Full Text] [Related]  

  • 7.
    Aoidi R; Houde N; Landry-Truchon K; Holter M; Jacquet K; Charron L; Krishnaswami SR; Yu BD; Rauen KA; Bisson N; Newbern J; Charron J
    Dis Model Mech; 2018 Mar; 11(3):. PubMed ID: 29590634
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 52(4):557-62. PubMed ID: 20030748
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 41(3):127-31. PubMed ID: 20859831
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 140(1):8-16. PubMed ID: 16372351
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
    Rodriguez-Viciana P; Tetsu O; Tidyman WE; Estep AL; Conger BA; Cruz MS; McCormick F; Rauen KA
    Science; 2006 Mar; 311(5765):1287-90. PubMed ID: 16439621
    [TBL] [Abstract][Full Text] [Related]  

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

  • 13. 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; 38(3):294-6. PubMed ID: 16474404
    [TBL] [Abstract][Full Text] [Related]  

  • 14. BRAF and MEK mutations make a late entrance.
    Duesbery N; Vande Woude G
    Sci STKE; 2006 Mar; 2006(328):pe15. PubMed ID: 16569817
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cardio-facio-cutaneous syndrome and moyamoya syndrome.
    Ishiguro Y; Kubota T; Takenaka J; Maruyama K; Okumura A; Negoro T; Watanabe K
    Brain Dev; 2002 Jun; 24(4):245-9. PubMed ID: 12015168
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.
    Senawong T; Phuchareon J; Ohara O; McCormick F; Rauen KA; Tetsu O
    Hum Mol Genet; 2008 Feb; 17(3):419-30. PubMed ID: 17981815
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Costello syndrome and related disorders.
    Quezada E; Gripp KW
    Curr Opin Pediatr; 2007 Dec; 19(6):636-44. PubMed ID: 18025929
    [TBL] [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; 49(12):894-9. PubMed ID: 18039235
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency.
    Aeby A; Sznajer Y; Cavé H; Rebuffat E; Van Coster R; Rigal O; Van Bogaert P
    J Inherit Metab Dis; 2007 Oct; 30(5):827. PubMed ID: 17703371
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.