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Journal Abstract Search

161 related items for PubMed ID: 17100996

  • 1. Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.
    Field M, Tarpey P, Boyle J, Edkins S, Goodship J, Luo Y, Moon J, Teague J, Stratton MR, Futreal PA, Wooster R, Raymond FL, Turner G.
    Clin Genet; 2006 Dec; 70(6):509-15. PubMed ID: 17100996
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  • 6. RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.
    Nakamura M, Yamagata T, Mori M, Momoi MY.
    Brain Dev; 2005 Mar; 27(2):114-7. PubMed ID: 15668050
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  • 8. Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome.
    Labonne JD, Chung MJ, Jones JR, Anand P, Wenzel W, Iacoboni D, Layman LC, Kim HG.
    Gene; 2016 Jan 01; 575(1):42-7. PubMed ID: 26297997
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  • 10. The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient.
    Marques Pereira P, Heron D, Hanauer A.
    Hum Genet; 2007 Dec 01; 122(5):541-3. PubMed ID: 17717706
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  • 13. An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.
    Castelluccio VJ, Vetrini F, Lynnes T, Jones J, Holloway L, Belonis A, Breman AM, Graham BH, Sapp K, Wilson T, Schwartz CE, Pratt VM, Weaver DD.
    Am J Med Genet A; 2019 Dec 01; 179(12):2357-2364. PubMed ID: 31512387
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  • 18. Novel missense mutation c.1784A>G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin-Lowry syndrome in a family with variable features and diabetes 2.
    Touma Boulos M, Moukarzel A, Yammine T, Salem N, Souaid M, Farra C.
    Clin Dysmorphol; 2021 Jan 01; 30(1):32-35. PubMed ID: 32858545
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  • 20. Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.
    Martínez-Garay I, Ballesta MJ, Oltra S, Orellana C, Palomeque A, Moltó MD, Prieto F, Martínez F.
    Clin Genet; 2003 Dec 01; 64(6):491-6. PubMed ID: 14986828
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