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Journal Abstract Search

396 related items for PubMed ID: 29590634

  • 1. Mek1Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome.
    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 13; 11(3):. PubMed ID: 29590634
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  • 2. Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?
    Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA.
    Clin Genet; 2014 Feb 13; 85(2):138-46. PubMed ID: 23379592
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  • 3. 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 13; 185(2):469-475. PubMed ID: 33274568
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  • 4. New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.
    Inoue S, Moriya M, Watanabe Y, Miyagawa-Tomita S, Niihori T, Oba D, Ono M, Kure S, Ogura T, Matsubara Y, Aoki Y.
    Hum Mol Genet; 2014 Dec 15; 23(24):6553-66. PubMed ID: 25035421
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  • 11. 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 01; 17(3):419-30. PubMed ID: 17981815
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  • 12. 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
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  • 13. Mutational and functional analysis in human Ras/MAP kinase genetic syndromes.
    Tidyman WE, Rauen KA.
    Methods Mol Biol; 2010 Dec 01; 661():433-47. PubMed ID: 20812000
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  • 14. Cancer-causing MAP2K1 mutation in a mosaic patient with cardio-facio-cutaneous syndrome and immunodeficiency.
    Zakharova V, Raykina E, Mersiyanova I, Deordieva E, Pershin D, Vedmedskia V, Rodina Y, Kuzmenko N, Maschan M, Shcherbina A.
    Hum Mutat; 2022 Dec 01; 43(12):1852-1855. PubMed ID: 36054331
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  • 15. LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW.
    Morcaldi G, Bellini T, Rossi C, Maghnie M, Boccardo F, Bonioli E, Bellini C.
    Lymphology; 2015 Sep 01; 48(3):121-7. PubMed ID: 26939159
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  • 16. 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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  • 17. 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
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  • 19. Cardio-facio-cutaneous syndrome: does genotype predict phenotype?
    Allanson JE, Annerén G, Aoki Y, Armour CM, Bondeson ML, Cave H, Gripp KW, Kerr B, Nystrom AM, Sol-Church K, Verloes A, Zenker M.
    Am J Med Genet C Semin Med Genet; 2011 May 15; 157C(2):129-35. PubMed ID: 21495173
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  • 20. Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.
    Rauen KA, Tidyman WE, Estep AL, Sampath S, Peltier HM, Bale SJ, Lacassie Y.
    Am J Med Genet A; 2010 Apr 15; 152A(4):807-14. PubMed ID: 20358587
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