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210 related items for PubMed ID: 33522658

  • 1. Ras/MAPK dysregulation in development causes a skeletal myopathy in an activating BrafL597V mouse model for cardio-facio-cutaneous syndrome.
    Maeda Y, Tidyman WE, Ander BP, Pritchard CA, Rauen KA.
    Dev Dyn; 2021 Aug; 250(8):1074-1095. PubMed ID: 33522658
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: developmental consequences of germline Ras/MAPK activation on myogenesis.
    Tidyman WE, Lee HS, Rauen KA.
    Am J Med Genet C Semin Med Genet; 2011 May 15; 157C(2):104-14. PubMed ID: 21495178
    [Abstract] [Full Text] [Related]

  • 4. 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 15; 185(2):469-475. PubMed ID: 33274568
    [Abstract] [Full Text] [Related]

  • 5. 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 15; 85(2):138-46. PubMed ID: 23379592
    [Abstract] [Full Text] [Related]

  • 6. Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome.
    Urosevic J, Sauzeau V, Soto-Montenegro ML, Reig S, Desco M, Wright EM, Cañamero M, Mulero F, Ortega S, Bustelo XR, Barbacid M.
    Proc Natl Acad Sci U S A; 2011 Mar 22; 108(12):5015-20. PubMed ID: 21383153
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents-the first cases of gonadal mosaicism in CFC?
    Geoghegan S, King G, Henchliffe J, Ramsden SC, Barry RJ, Green AJ, O'Connell SM.
    Am J Med Genet A; 2018 Jul 13; 176(7):1637-1640. PubMed ID: 29704308
    [Abstract] [Full Text] [Related]

  • 9. Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies.
    Rauen KA, Banerjee A, Bishop WR, Lauchle JO, McCormick F, McMahon M, Melese T, Munster PN, Nadaf S, Packer RJ, Sebolt-Leopold J, Viskochil DH.
    Am J Med Genet C Semin Med Genet; 2011 May 15; 157C(2):136-46. PubMed ID: 21495172
    [Abstract] [Full Text] [Related]

  • 10. Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis.
    Goodwin AF, Oberoi S, Landan M, Charles C, Groth J, Martinez A, Fairley C, Weiss LA, Tidyman WE, Klein OD, Rauen KA.
    Clin Genet; 2013 Jun 15; 83(6):539-44. PubMed ID: 22946697
    [Abstract] [Full Text] [Related]

  • 11. Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.
    Ciara E, Pelc M, Jurkiewicz D, Kugaudo M, Gieruszczak-Białek D, Skórka A, Posmyk R, Jakubiuk-Tomaszuk A, Cieślikowska A, Chrzanowska KH, Jezela-Stanek A, Krajewska-Walasek M.
    Eur J Med Genet; 2015 Jan 15; 58(1):14-20. PubMed ID: 25463315
    [Abstract] [Full Text] [Related]

  • 12. Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
    Ueda K, Yaoita M, Niihori T, Aoki Y, Okamoto N.
    Am J Med Genet A; 2017 Sep 15; 173(9):2346-2352. PubMed ID: 28650561
    [Abstract] [Full Text] [Related]

  • 13. Senescence in RASopathies, a possible novel contributor to a complex pathophenoype.
    Engler M, Fidan M, Nandi S, Cirstea IC.
    Mech Ageing Dev; 2021 Mar 15; 194():111411. PubMed ID: 33309600
    [Abstract] [Full Text] [Related]

  • 14. Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome.
    Suzuki-Muromoto S, Miyabayashi T, Nagai K, Yamamura-Suzuki S, Anzai M, Takezawa Y, Sato R, Okubo Y, Endo W, Inui T, Togashi N, Kikuchi A, Niihori T, Aoki Y, Kure S, Haginoya K.
    J Hum Genet; 2019 May 15; 64(5):499-504. PubMed ID: 30842599
    [Abstract] [Full Text] [Related]

  • 15. [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
    [Abstract] [Full Text] [Related]

  • 16. Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.
    Siegel DH, McKenzie J, Frieden IJ, Rauen KA.
    Br J Dermatol; 2011 Mar 20; 164(3):521-9. PubMed ID: 21062266
    [Abstract] [Full Text] [Related]

  • 17. Mutational and functional analysis in human Ras/MAP kinase genetic syndromes.
    Tidyman WE, Rauen KA.
    Methods Mol Biol; 2010 Mar 20; 661():433-47. PubMed ID: 20812000
    [Abstract] [Full Text] [Related]

  • 18. Autism traits in the RASopathies.
    Adviento B, Corbin IL, Widjaja F, Desachy G, Enrique N, Rosser T, Risi S, Marco EJ, Hendren RL, Bearden CE, Rauen KA, Weiss LA.
    J Med Genet; 2014 Jan 20; 51(1):10-20. PubMed ID: 24101678
    [Abstract] [Full Text] [Related]

  • 19. Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype.
    Moriya M, Inoue S, Miyagawa-Tomita S, Nakashima Y, Oba D, Niihori T, Hashi M, Ohnishi H, Kure S, Matsubara Y, Aoki Y.
    Hum Mol Genet; 2015 Dec 20; 24(25):7349-60. PubMed ID: 26472072
    [Abstract] [Full Text] [Related]

  • 20. 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 20; 48(3):121-7. PubMed ID: 26939159
    [Abstract] [Full Text] [Related]

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