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Journal Abstract Search

230 related items for PubMed ID: 26420639

  • 41. MECP2-Related Disorders in Males.
    Pascual-Alonso A, Martínez-Monseny AF, Xiol C, Armstrong J.
    Int J Mol Sci; 2021 Sep 04; 22(17):. PubMed ID: 34502518
    [Abstract] [Full Text] [Related]

  • 42. Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities.
    Mandelstam SA, Leventer RJ, Sandow A, McGillivray G, van Kogelenberg M, Guerrini R, Robertson S, Berkovic SF, Jackson GD, Scheffer IE.
    AJNR Am J Neuroradiol; 2013 Feb 04; 34(2):432-8. PubMed ID: 23348762
    [Abstract] [Full Text] [Related]

  • 43. De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation.
    Mayo S, Monfort S, Roselló M, Orellana C, Oltra S, Armstrong J, Català V, Martínez F.
    Cytogenet Genome Res; 2011 Feb 04; 135(2):93-101. PubMed ID: 21934280
    [Abstract] [Full Text] [Related]

  • 44. Distal Xq duplication and functional Xq disomy.
    Sanlaville D, Schluth-Bolard C, Turleau C.
    Orphanet J Rare Dis; 2009 Feb 20; 4():4. PubMed ID: 19232094
    [Abstract] [Full Text] [Related]

  • 45. [Genetic analysis of a pedigree with MECP duplication syndrome].
    Liu J, Xi H, Peng Y, Pang J, Hu J, Ma N, Jia Z, Wang H.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Oct 10; 37(10):1146-1149. PubMed ID: 32924122
    [Abstract] [Full Text] [Related]

  • 46. Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.
    Rio M, Malan V, Boissel S, Toutain A, Royer G, Gobin S, Morichon-Delvallez N, Turleau C, Bonnefont JP, Munnich A, Vekemans M, Colleaux L.
    Eur J Hum Genet; 2010 Mar 10; 18(3):285-90. PubMed ID: 19844254
    [Abstract] [Full Text] [Related]

  • 47. Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome.
    Mendonca D, Cappuccio G, Sheppard J, Delacruz M, Bengtsson J, Carvalho CMB, Bajic A, Park H, Kim JJ, Jafar-Nejad P, Coquery C, Pehlivan D, Suter B, Maletic-Savatic M.
    Stem Cell Res; 2024 Feb 10; 74():103292. PubMed ID: 38154383
    [Abstract] [Full Text] [Related]

  • 48. De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features.
    Makrythanasis P, Moix I, Gimelli S, Fluss J, Aliferis K, Antonarakis SE, Morris MA, Béna F, Bottani A.
    Clin Genet; 2010 Aug 10; 78(2):175-80. PubMed ID: 20236124
    [Abstract] [Full Text] [Related]

  • 49. Expanding the clinical picture of the MECP2 Duplication syndrome.
    Lim Z, Downs J, Wong K, Ellaway C, Leonard H.
    Clin Genet; 2017 Apr 10; 91(4):557-563. PubMed ID: 27247049
    [Abstract] [Full Text] [Related]

  • 50. A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections.
    Xu X, Xu Q, Zhang Y, Zhang X, Cheng T, Wu B, Ding Y, Lu P, Zheng J, Zhang M, Qiu Z, Yu X.
    BMC Med Genet; 2012 Aug 21; 13():75. PubMed ID: 22909152
    [Abstract] [Full Text] [Related]

  • 51. Phenotypic features in MECP2 duplication syndrome: Effects of age.
    Peters SU, Fu C, Marsh ED, Benke TA, Suter B, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Glaze DG, Percy AK, Neul JL.
    Am J Med Genet A; 2021 Feb 21; 185(2):362-369. PubMed ID: 33170557
    [Abstract] [Full Text] [Related]

  • 52. Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome.
    Sanmann JN, Bishay DL, Starr LJ, Bell CA, Pickering DL, Stevens JM, Kahler SG, Olney AH, Schaefer GB, Sanger WG.
    Am J Med Genet A; 2012 Jun 21; 158A(6):1285-91. PubMed ID: 22581587
    [Abstract] [Full Text] [Related]

  • 53. The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism.
    Peters SU, Hundley RJ, Wilson AK, Warren Z, Vehorn A, Carvalho CM, Lupski JR, Ramocki MB.
    Autism Res; 2013 Feb 21; 6(1):42-50. PubMed ID: 23169761
    [Abstract] [Full Text] [Related]

  • 54. De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.
    Grasshoff U, Bonin M, Goehring I, Ekici A, Dufke A, Cremer K, Wagner N, Rossier E, Jauch A, Walter M, Bauer C, Bauer P, Horber K, Beck-Woedl S, Wieczorek D.
    Eur J Hum Genet; 2011 May 21; 19(5):507-12. PubMed ID: 21326285
    [Abstract] [Full Text] [Related]

  • 55. Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.
    Bauters M, Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, Rosenberg C, Ignatius J, Raynaud M, Hollanders K, Govaerts K, Vandenreijt K, Niel F, Blanc P, Stevenson RE, Fryns JP, Marynen P, Schwartz CE, Froyen G.
    Genome Res; 2008 Jun 21; 18(6):847-58. PubMed ID: 18385275
    [Abstract] [Full Text] [Related]

  • 56. Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome.
    Meins M, Lehmann J, Gerresheim F, Herchenbach J, Hagedorn M, Hameister K, Epplen JT.
    J Med Genet; 2005 Feb 21; 42(2):e12. PubMed ID: 15689435
    [No Abstract] [Full Text] [Related]

  • 57. De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.
    Fieremans N, Bauters M, Belet S, Verbeeck J, Jansen AC, Seneca S, Roelens F, De Baere E, Marynen P, Froyen G.
    Hum Genet; 2014 Nov 21; 133(11):1359-67. PubMed ID: 25037250
    [Abstract] [Full Text] [Related]

  • 58. Clinical impacts of genomic copy number gains at Xq28.
    Yamamoto T, Shimojima K, Shimada S, Yokochi K, Yoshitomi S, Yanagihara K, Imai K, Okamoto N.
    Hum Genome Var; 2014 Nov 21; 1():14001. PubMed ID: 27081496
    [Abstract] [Full Text] [Related]

  • 59. Infectious and immunologic phenotype of MECP2 duplication syndrome.
    Bauer M, Kölsch U, Krüger R, Unterwalder N, Hameister K, Kaiser FM, Vignoli A, Rossi R, Botella MP, Budisteanu M, Rosello M, Orellana C, Tejada MI, Papuc SM, Patat O, Julia S, Touraine R, Gomes T, Wenner K, Xu X, Afenjar A, Toutain A, Philip N, Jezela-Stanek A, Gortner L, Martinez F, Echenne B, Wahn V, Meisel C, Wieczorek D, El-Chehadeh S, Van Esch H, von Bernuth H.
    J Clin Immunol; 2015 Feb 21; 35(2):168-81. PubMed ID: 25721700
    [Abstract] [Full Text] [Related]

  • 60. MECP2 DUPLICATION SYNDROME WITH ADDITIONAL FINDINGS.
    Tug E, Ergun MA, Percin EF.
    Genet Couns; 2016 Feb 21; 27(4):471-478. PubMed ID: 30226965
    [Abstract] [Full Text] [Related]

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