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Journal Abstract Search

138 related items for PubMed ID: 26494162

  • 1. Prenatal findings in cardio-facio-cutaneous syndrome.
    Templin L, Baumann C, Busa T, Heckenroth H, Pouvreau N, Toutain A, Cave H, Verloes A, Sigaudy S, Philip N.
    Am J Med Genet A; 2016 Feb; 170A(2):441-445. PubMed ID: 26494162
    [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 01; 143A(13):1472-80. PubMed ID: 17551924
    [Abstract] [Full Text] [Related]

  • 3. Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.
    Biard JM, Steenhaut P, Bernard P, Race V, Sznajer Y.
    Eur J Obstet Gynecol Reprod Biol; 2019 Sep 01; 240():232-241. PubMed ID: 31336229
    [Abstract] [Full Text] [Related]

  • 4. 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 01; 44(12):763-71. PubMed ID: 17704260
    [Abstract] [Full Text] [Related]

  • 5. 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 01; 29(5):287-90. PubMed ID: 17483702
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype.
    Rauen KA.
    Am J Med Genet A; 2006 Aug 01; 140(15):1681-3. PubMed ID: 16804887
    [No Abstract] [Full Text] [Related]

  • 8. 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 01; 41(3):127-31. PubMed ID: 20859831
    [Abstract] [Full Text] [Related]

  • 9. Obstetrical and neonatal outcomes of cardio-facio-cutaneous syndrome: Prenatal consequences of Ras/MAPK dysregulation.
    Jelin AC, Mahle A, Tran SH, Sparks TN, Rauen KA.
    Am J Med Genet A; 2023 Feb 01; 191(2):323-331. PubMed ID: 36308388
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 38(3):294-6. PubMed ID: 16474404
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 73(1):62-70. PubMed ID: 18042262
    [Abstract] [Full Text] [Related]

  • 12. Gene symbol: BRAF. Disease: Cardio-facio-cutaneous syndrome.
    Cave H.
    Hum Genet; 2008 Feb 01; 123(1):108-9. PubMed ID: 18386342
    [No Abstract] [Full Text] [Related]

  • 13. 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 Feb 01; 23(2):305-11. PubMed ID: 22876591
    [Abstract] [Full Text] [Related]

  • 14. MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease.
    Gos M, Smigiel R, Kaczan T, Landowska A, Abramowicz A, Sasiadek M, Bal J.
    Am J Med Genet A; 2018 Jul 01; 176(7):1670-1674. PubMed ID: 29799162
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 52(4):557-62. PubMed ID: 20030748
    [Abstract] [Full Text] [Related]

  • 16. Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations.
    Armour CM, Allanson JE.
    J Med Genet; 2008 Apr 01; 45(4):249-54. PubMed ID: 18039946
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 143A(13):1481-8. PubMed ID: 17567882
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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 03; 311(5765):1287-90. PubMed ID: 16439621
    [Abstract] [Full Text] [Related]

  • 20. Costello syndrome and related disorders.
    Quezada E, Gripp KW.
    Curr Opin Pediatr; 2007 Dec 03; 19(6):636-44. PubMed ID: 18025929
    [Abstract] [Full Text] [Related]

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