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Journal Abstract Search

161 related items for PubMed ID: 17100996

  • 21. Four novel RSK2 mutations in females with Coffin-Lowry syndrome.
    Jurkiewicz D, Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Kugaudo M, Gajdulewicz M, Chrzanowska K, Popowska E, Krajewska-Walasek M.
    Eur J Med Genet; 2010; 53(5):268-73. PubMed ID: 20637903
    [Abstract] [Full Text] [Related]

  • 22. Stimulus-induced drop episodes in Coffin-Lowry syndrome.
    Hahn JS, Hanauer A.
    Eur J Med Genet; 2012 May; 55(5):335-7. PubMed ID: 22490425
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  • 23. Deletion of the Coffin-Lowry syndrome gene Rsk2 in mice is associated with impaired spatial learning and reduced control of exploratory behavior.
    Poirier R, Jacquot S, Vaillend C, Soutthiphong AA, Libbey M, Davis S, Laroche S, Hanauer A, Welzl H, Lipp HP, Wolfer DP.
    Behav Genet; 2007 Jan; 37(1):31-50. PubMed ID: 17033934
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  • 24. Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.
    Rojnueangnit K, Jones JR, Basehore MJ, Robin NH.
    Am J Med Genet A; 2014 Feb; 164A(2):516-21. PubMed ID: 24311527
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  • 25. [Deletion of the RPS6KA3 gene in a female with a classical phenotype of Coffin-Lowry syndrome including stimulus-induced drop attacks].
    Quintela I, Barros-Angueira F, Pérez-Gay L, Castro-Gago M, Carracedo Á, Eirís-Puñal J.
    Rev Neurol; 2015 Jul 16; 61(2):94-6. PubMed ID: 26156445
    [No Abstract] [Full Text] [Related]

  • 26. Coffin-Lowry syndrome: a role for RSK2 in mammalian neurogenesis.
    Dugani CB, Paquin A, Kaplan DR, Miller FD.
    Dev Biol; 2010 Nov 15; 347(2):348-59. PubMed ID: 20832397
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  • 27. Coffin-Lowry Syndrome Induced by RPS6KA3 Gene Variation in China: A Case Report in Twins.
    Jin H, Li H, Qiang S.
    Medicina (Kaunas); 2022 Jul 20; 58(7):. PubMed ID: 35888677
    [Abstract] [Full Text] [Related]

  • 28. Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.
    Zeniou M, Pannetier S, Fryns JP, Hanauer A.
    Am J Hum Genet; 2002 Jun 20; 70(6):1421-33. PubMed ID: 11992250
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  • 30. Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
    Delaunoy J, Abidi F, Zeniou M, Jacquot S, Merienne K, Pannetier S, Schmitt M, Schwartz C, Hanauer A.
    Hum Mutat; 2001 Feb 20; 17(2):103-16. PubMed ID: 11180593
    [Abstract] [Full Text] [Related]

  • 31. p90 ribosomal S6 kinase 2 exerts a tonic brake on G protein-coupled receptor signaling.
    Sheffler DJ, Kroeze WK, Garcia BG, Deutch AY, Hufeisen SJ, Leahy P, Brüning JC, Roth BL.
    Proc Natl Acad Sci U S A; 2006 Mar 21; 103(12):4717-22. PubMed ID: 16537434
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  • 36. The Coffin-Lowry syndrome-associated protein RSK2 and neurosecretion.
    Zeniou-Meyer M, Gambino F, Ammar MR, Humeau Y, Vitale N.
    Cell Mol Neurobiol; 2010 Nov 21; 30(8):1401-6. PubMed ID: 21061166
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  • 37. X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1).
    Jacquot S, Zeniou M, Touraine R, Hanauer A.
    Eur J Hum Genet; 2002 Jan 21; 10(1):2-5. PubMed ID: 11896450
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  • 38. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.
    Giorgio E, Brussino A, Biamino E, Belligni EF, Bruselles A, Ciolfi A, Caputo V, Pizzi S, Calcia A, Di Gregorio E, Cavalieri S, Mancini C, Pozzi E, Ferrero M, Riberi E, Borelli I, Amoroso A, Ferrero GB, Tartaglia M, Brusco A.
    Eur J Paediatr Neurol; 2017 May 21; 21(3):475-484. PubMed ID: 28027854
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  • 40. The Coffin-Lowry syndrome-associated protein RSK2 regulates neurite outgrowth through phosphorylation of phospholipase D1 (PLD1) and synthesis of phosphatidic acid.
    Ammar MR, Humeau Y, Hanauer A, Nieswandt B, Bader MF, Vitale N.
    J Neurosci; 2013 Dec 11; 33(50):19470-9. PubMed ID: 24336713
    [Abstract] [Full Text] [Related]

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