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

194 related items for PubMed ID: 28302064

  • 1. A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes.
    Yon DK, Park JE, Kim SJ, Shim SH, Chae KY.
    BMC Med Genet; 2017 Mar 17; 18(1):30. PubMed ID: 28302064
    [Abstract] [Full Text] [Related]

  • 2. Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.
    Yi Z, Pan H, Li L, Wu H, Wang S, Ma Y, Qi Y.
    Eur J Med Genet; 2016 Jun 17; 59(6-7):347-53. PubMed ID: 27180140
    [Abstract] [Full Text] [Related]

  • 3. 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 17; 97(4):610-620. PubMed ID: 32043567
    [Abstract] [Full Text] [Related]

  • 4. 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 17; 64(12):104367. PubMed ID: 34678473
    [Abstract] [Full Text] [Related]

  • 5. Lack of MECP2 gene transcription on the duplicated alleles of two related asymptomatic females with Xq28 duplications and opposite X-chromosome inactivation skewing.
    Sun Y, Yang Y, Luo Y, Chen M, Wang L, Huang Y, Yang Y, Dong M.
    Hum Mutat; 2021 Nov 17; 42(11):1429-1442. PubMed ID: 34273908
    [Abstract] [Full Text] [Related]

  • 6. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.
    Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY.
    Ann Neurol; 2009 Dec 17; 66(6):771-82. PubMed ID: 20035514
    [Abstract] [Full Text] [Related]

  • 7. 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 17; 118(6):e1687-95. PubMed ID: 17088400
    [Abstract] [Full Text] [Related]

  • 8. [Diagnosis of MECP2 duplication syndrome with molecular genetic techniques].
    Yi Z, Wang S, Li L, Wu H, Ma Y, Qi Y, Pan H.
    Zhonghua Er Ke Za Zhi; 2014 Dec 17; 52(12):937-41. PubMed ID: 25619353
    [Abstract] [Full Text] [Related]

  • 9. 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 17; 182(4):619-622. PubMed ID: 32052928
    [Abstract] [Full Text] [Related]

  • 10. MECP2 duplication syndrome in a Chinese family.
    Zhang Q, Zhao Y, Yang Y, Bao X.
    BMC Med Genet; 2015 Dec 16; 16():112. PubMed ID: 26672597
    [Abstract] [Full Text] [Related]

  • 11. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
    Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gecz J, Moraine C, Marynen P, Fryns JP, Froyen G.
    Am J Hum Genet; 2005 Sep 16; 77(3):442-53. PubMed ID: 16080119
    [Abstract] [Full Text] [Related]

  • 12. Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets.
    Jordan C, Li HH, Kwan HC, Francke U.
    BMC Med Genet; 2007 Jun 20; 8():36. PubMed ID: 17584923
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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]

  • 15. Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.
    Bijlsma EK, Collins A, Papa FT, Tejada MI, Wheeler P, Peeters EA, Gijsbers AC, van de Kamp JM, Kriek M, Losekoot M, Broekma AJ, Crolla JA, Pollazzon M, Mucciolo M, Katzaki E, Disciglio V, Ferreri MI, Marozza A, Mencarelli MA, Castagnini C, Dosa L, Ariani F, Mari F, Canitano R, Hayek G, Botella MP, Gener B, Mínguez M, Renieri A, Ruivenkamp CA.
    Eur J Med Genet; 2012 Jun 01; 55(6-7):404-13. PubMed ID: 22522176
    [Abstract] [Full Text] [Related]

  • 16. MECP2 duplications in six patients with complex sex chromosome rearrangements.
    Breman AM, Ramocki MB, Kang SH, Williams M, Freedenberg D, Patel A, Bader PI, Cheung SW.
    Eur J Hum Genet; 2011 Apr 01; 19(4):409-15. PubMed ID: 21119712
    [Abstract] [Full Text] [Related]

  • 17. Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype.
    Ward DI, Buckley BA, Leon E, Diaz J, Galegos MF, Hofherr S, Lewanda AF.
    Am J Med Genet A; 2018 Mar 01; 176(3):551-559. PubMed ID: 29341460
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 35(5):411-9. PubMed ID: 22877836
    [Abstract] [Full Text] [Related]

  • 19. 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 01; 17(4):444-53. PubMed ID: 18985075
    [Abstract] [Full Text] [Related]

  • 20. 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 Apr 01; 135(2):93-101. PubMed ID: 21934280
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 10.