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

131 related items for PubMed ID: 38154383

  • 1. 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; 74():103292. PubMed ID: 38154383
    [Abstract] [Full Text] [Related]

  • 2. MECP2 duplication syndrome in a patient from Cameroon.
    Tekendo-Ngongang C, Dahoun S, Nguefack S, Moix I, Gimelli S, Zambo H, Morris MA, Sloan-Béna F, Wonkam A.
    Am J Med Genet A; 2020 Apr; 182(4):619-622. PubMed ID: 32052928
    [Abstract] [Full Text] [Related]

  • 3. Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
    Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP.
    Eur J Hum Genet; 2009 Apr; 17(4):444-53. PubMed ID: 18985075
    [Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

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

  • 8. MECP2 and the biology of MECP2 duplication syndrome.
    D'Mello SR.
    J Neurochem; 2021 Oct; 159(1):29-60. PubMed ID: 33638179
    [Abstract] [Full Text] [Related]

  • 9. Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome.
    Akahoshi K, Nakagawa E, Goto YI, Inoue K.
    BMC Med Genomics; 2023 Mar 06; 16(1):43. PubMed ID: 36879246
    [Abstract] [Full Text] [Related]

  • 10. [Advance in research on MECP2 [corrected] duplication syndrome].
    Zhang Q, Bao X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Jun 06; 32(3):426-9. PubMed ID: 26037367
    [Abstract] [Full Text] [Related]

  • 11. Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2.
    Fukushi D, Yamada K, Nomura N, Naiki M, Kimura R, Yamada Y, Kumagai T, Yamaguchi K, Miyake Y, Wakamatsu N.
    Am J Med Genet A; 2014 Apr 06; 164A(4):924-33. PubMed ID: 24478188
    [Abstract] [Full Text] [Related]

  • 12. High frequency of nonrecurrent MECP2 duplications among Brazilian males with mental retardation.
    Campos M, Churchman SM, Santos-Rebouças CB, Ponchel F, Pimentel MM.
    J Mol Neurosci; 2010 May 06; 41(1):105-9. PubMed ID: 19806472
    [Abstract] [Full Text] [Related]

  • 13. Altered neuronal network and rescue in a human MECP2 duplication model.
    Nageshappa S, Carromeu C, Trujillo CA, Mesci P, Espuny-Camacho I, Pasciuto E, Vanderhaeghen P, Verfaillie CM, Raitano S, Kumar A, Carvalho CM, Bagni C, Ramocki MB, Araujo BH, Torres LB, Lupski JR, Van Esch H, Muotri AR.
    Mol Psychiatry; 2016 Feb 06; 21(2):178-88. PubMed ID: 26347316
    [Abstract] [Full Text] [Related]

  • 14. Molecular characterization of Spanish patients with MECP2 duplication syndrome.
    Pascual-Alonso A, Blasco L, Vidal S, Gean E, Rubio P, O'Callaghan M, Martínez-Monseny AF, Castells AA, Xiol C, Català V, Brandi N, Pacheco P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S, Armstrong J.
    Clin Genet; 2020 Apr 06; 97(4):610-620. PubMed ID: 32043567
    [Abstract] [Full Text] [Related]

  • 15. A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.
    Hanchard NA, Carvalho CM, Bader P, Thome A, Omo-Griffith L, del Gaudio D, Pehlivan D, Fang P, Schaaf CP, Ramocki MB, Lupski JR, Cheung SW.
    BMC Med Genet; 2012 Aug 10; 13():71. PubMed ID: 22883432
    [Abstract] [Full Text] [Related]

  • 16. 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 10; 118(6):e1687-95. PubMed ID: 17088400
    [Abstract] [Full Text] [Related]

  • 17. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
    del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB.
    Genet Med; 2006 Dec 10; 8(12):784-92. PubMed ID: 17172942
    [Abstract] [Full Text] [Related]

  • 18. Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.
    Abdala BB, Gonçalves AP, Dos Santos JM, Boy R, de Carvalho CMB, Grochowski CM, Krepischi ACV, Rosenberg C, Gusmão L, Pehlivan D, Pimentel MMG, Santos-Rebouças CB.
    Eur J Med Genet; 2021 Dec 10; 64(12):104367. PubMed ID: 34678473
    [Abstract] [Full Text] [Related]

  • 19. Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.
    Li X, Xie H, Chen Q, Yu X, Yi Z, Li E, Zhang T, Wang J, Zhong J, Chen X.
    BMC Med Genet; 2017 Nov 15; 18(1):131. PubMed ID: 29141583
    [Abstract] [Full Text] [Related]

  • 20. Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.
    Smyk M, Obersztyn E, Nowakowska B, Nawara M, Cheung SW, Mazurczak T, Stankiewicz P, Bocian E.
    Am J Med Genet B Neuropsychiatr Genet; 2008 Sep 05; 147B(6):799-806. PubMed ID: 18165974
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 7.