These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

244 related items for PubMed ID: 20236124

  • 1. 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; 78(2):175-80. PubMed ID: 20236124
    [Abstract] [Full Text] [Related]

  • 2. 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 Aug; 135(2):93-101. PubMed ID: 21934280
    [Abstract] [Full Text] [Related]

  • 3. Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.
    Friez MJ, Jones JR, Clarkson K, Lubs H, Abuelo D, Bier JA, Pai S, Simensen R, Williams C, Giampietro PF, Schwartz CE, Stevenson RE.
    Pediatrics; 2006 Dec; 118(6):e1687-95. PubMed ID: 17088400
    [Abstract] [Full Text] [Related]

  • 4. Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation.
    Tejada MI, Peñagarikano O, Rodriguez-Revenga L, Martinez-Bouzas C, García B, Bádenas C, Guitart M, Minguez M, García-Alegría E, Sanz-Parra A, Beristain E, Milá M.
    Clin Genet; 2006 Aug; 70(2):140-4. PubMed ID: 16879196
    [Abstract] [Full Text] [Related]

  • 5. MECP2 duplication syndrome in both genders.
    Shimada S, Okamoto N, Ito M, Arai Y, Momosaki K, Togawa M, Maegaki Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T.
    Brain Dev; 2013 May; 35(5):411-9. PubMed ID: 22877836
    [Abstract] [Full Text] [Related]

  • 6. Spectrum of MECP2 mutations in New Zealand Rett syndrome patients.
    Raizis AM, Saleem M, MacKay R, George PM.
    N Z Med J; 2009 Jun 05; 122(1296):21-8. PubMed ID: 19652677
    [Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11. Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome.
    Kim SJ, Cook EH.
    Hum Mutat; 2000 Apr 05; 15(4):382-3. PubMed ID: 10737989
    [Abstract] [Full Text] [Related]

  • 12. MECP2 mutations in Serbian Rett syndrome patients.
    Djarmati A, Dobricić V, Kecmanović M, Marsh P, Jancić-Stefanović J, Klein C, Djurić M, Romac S.
    Acta Neurol Scand; 2007 Dec 05; 116(6):413-9. PubMed ID: 17986102
    [Abstract] [Full Text] [Related]

  • 13. De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay.
    Lin DS, Chuang TP, Chiang MF, Ho CS, Hsiao CD, Huang YW, Wu TY, Wu JY, Chen YT, Chen TC, Li LH.
    Gene; 2014 Jan 01; 533(1):78-85. PubMed ID: 24129071
    [Abstract] [Full Text] [Related]

  • 14. MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients.
    Moog U, Van Roozendaal K, Smeets E, Tserpelis D, Devriendt K, Buggenhout GV, Frijns JP, Schrander-Stumpel C.
    Brain Dev; 2006 Jun 01; 28(5):305-10. PubMed ID: 16376510
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.
    Bartholdi D, Klein A, Weissert M, Koenig N, Baumer A, Boltshauser E, Schinzel A, Berger W, Mátyás G.
    Clin Genet; 2006 Apr 01; 69(4):319-26. PubMed ID: 16630165
    [Abstract] [Full Text] [Related]

  • 17. Pure subtelomeric microduplications as a cause of mental retardation.
    Ruiter EM, Koolen DA, Kleefstra T, Nillesen WM, Pfundt R, de Leeuw N, Hamel BC, Brunner HG, Sistermans EA, de Vries BB.
    Clin Genet; 2007 Oct 01; 72(4):362-8. PubMed ID: 17850634
    [Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).
    Koolen DA, Nillesen WM, Versteeg MH, Merkx GF, Knoers NV, Kets M, Vermeer S, van Ravenswaaij CM, de Kovel CG, Brunner HG, Smeets D, de Vries BB, Sistermans EA.
    J Med Genet; 2004 Dec 01; 41(12):892-9. PubMed ID: 15591274
    [Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 13.