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    Results: 1 to 20 of 130

    1.

    Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies.

    Urdinguio RG, Sanchez-Mut JV, Esteller M.

    Lancet Neurol. 2009 Nov;8(11):1056-72. Review.PMID: 19833297 [PubMed - indexed for MEDLINE]Related articles

    2.

    Molecular mechanisms underlying hemophilia A phenotype in seven females.

    Pavlova A, Brondke H, Müsebeck J, Pollmann H, Srivastava A, Oldenburg J.

    J Thromb Haemost. 2009 Jun;7(6):976-82. Epub 2009 Mar 19.PMID: 19302446 [PubMed - indexed for MEDLINE]Related articles

    3.

    Treatment of drop attacks in Coffin-Lowry syndrome with the use of sodium oxybate.

    Havaligi N, Matadeen-Ali C, Khurana DS, Marks H, Kothare SV.

    Pediatr Neurol. 2007 Nov;37(5):373-4.PMID: 17950427 [PubMed - indexed for MEDLINE]Related articles

    4.

    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;122(5):541-3. Epub 2007 Aug 24.PMID: 17717706 [PubMed - indexed for MEDLINE]Related articles

    5.

    Gene symbol: RPS6KA3.

    Chen TJ, Wang Y, Martinez JE, Wilson GL, He XY, Tuck-Muller CM, Maertens P, Wertelecki W, Chen TJ.

    Hum Genet. 2007 Apr;121(2):288. No abstract available. PMID: 17598200 [PubMed - indexed for MEDLINE]Related articles

    6.

    RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome.

    Micheli V, Sestini S, Parri V, Fichera M, Romano C, Ariani F, Longo I, Mari F, Bruttini M, Renieri A, Meloni I.

    Clin Chim Acta. 2007 Sep;384(1-2):35-40. Epub 2007 May 26.PMID: 17586481 [PubMed - indexed for MEDLINE]Related articles

    7.

    Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome.

    Kesler SR, Simensen RJ, Voeller K, Abidi F, Stevenson RE, Schwartz CE, Reiss AL.

    Neurogenetics. 2007 Apr;8(2):143-7. Epub 2007 Feb 22.PMID: 17318637 [PubMed - indexed for MEDLINE]Related articles

    8.

    Coffin-Lowry syndrome: findings and dental treatment.

    Wasersprung D, Sarnat H.

    Spec Care Dentist. 2006 Sep-Oct;26(5):220-4.PMID: 17249444 [PubMed - indexed for MEDLINE]Related articles

    9.

    The musculoskeletal manifestations of the Coffin-Lowry syndrome.

    Herrera-Soto JA, Santiago-Cornier A, Segal LS, Ramirez N, Tamai J.

    J Pediatr Orthop. 2007 Jan-Feb;27(1):85-9.PMID: 17195803 [PubMed - indexed for MEDLINE]Related articles

    10.

    Signal transduction mechanisms in memory disorders.

    Shalin SC, Egli R, Birnbaum SG, Roth TL, Levenson JM, Sweatt JD.

    Prog Brain Res. 2006;157:25-41. Review.PMID: 17167902 [PubMed - indexed for MEDLINE]Related articles

    11.

    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.PMID: 17100996 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.

    Delaunoy JP, Dubos A, Marques Pereira P, Hanauer A.

    Clin Genet. 2006 Aug;70(2):161-6.PMID: 16879200 [PubMed - indexed for MEDLINE]Related articles

    13.

    Cataplexy leading to the diagnosis of Niemann-Pick disease type C.

    Smit LS, Lammers GJ, Catsman-Berrevoets CE.

    Pediatr Neurol. 2006 Jul;35(1):82-4.PMID: 16814094 [PubMed - indexed for MEDLINE]Related articles

    14.

    A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome.

    Wang Y, Martinez JE, Wilson GL, He XY, Tuck-Muller CM, Maertens P, Wertelecki W, Chen TJ.

    Am J Med Genet A. 2006 Jun 15;140(12):1274-9.PMID: 16691578 [PubMed - indexed for MEDLINE]Related articles

    15.

    Dendritic pathology in mental retardation: from molecular genetics to neurobiology.

    Dierssen M, Ramakers GJ.

    Genes Brain Behav. 2006;5 Suppl 2:48-60. Review.PMID: 16681800 [PubMed - indexed for MEDLINE]Related articles

    16.

    A case of Coffin-Lowry syndrome with premature exfoliation of primary teeth.

    Igari K, Hozumi Y, Monma Y, Mayanagi H.

    Int J Paediatr Dent. 2006 May;16(3):213-7.PMID: 16643544 [PubMed - indexed for MEDLINE]Related articles

    17.

    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. Epub 2006 Mar 10.PMID: 16537434 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    Constitutive phosphorylation of ATM in lymphoblastoid cell lines from patients with ICF syndrome without downstream kinase activity.

    Goldstine JV, Nahas S, Gamo K, Gartler SM, Hansen RS, Roelfsema JH, Gatti RA, Marahrens Y.

    DNA Repair (Amst). 2006 Apr 8;5(4):432-43. Epub 2006 Jan 19.PMID: 16426903 [PubMed - indexed for MEDLINE]Related articles

    19.

    Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay.

    Falco M, Romano C, Alberti A, Greco D, Scuderi C, Avola E, Failla P, Belli S, Tolmie JL, Amata S, Fichera M.

    Clin Chem. 2005 Dec;51(12):2356-8. No abstract available. PMID: 16306095 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    Neuroplasticity in children.

    Mundkur N.

    Indian J Pediatr. 2005 Oct;72(10):855-7.PMID: 16272658 [PubMed - indexed for MEDLINE]Related articles

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