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Journal Abstract Search

230 related items for PubMed ID: 26420639

  • 61. An insertion mutation of the MECP2 gene in severe neonatal encephalopathy and ocular and oropharyngeal dyskinesia: a case report.
    Liang J, Xin C, Xin M, Wang G, Wu X.
    BMC Med Genomics; 2023 Aug 03; 16(1):181. PubMed ID: 37537631
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  • 63. An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome.
    Maino E, Scott O, Rizvi SZ, Chan WS, Visuvanathan S, Zablah YB, Li H, Sengar AS, Salter MW, Jia Z, Rossant J, Cohn RD, Gu B, Ivakine EA.
    Dis Model Mech; 2024 Jul 01; 17(7):. PubMed ID: 38881329
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  • 66. Neuroimaging in nine patients with inversion duplication of the short arm of chromosome 8.
    Feenstra I, van Ravenswaaij CM, van der Knaap MS, Willemsen MA.
    Neuropediatrics; 2006 Apr 01; 37(2):83-7. PubMed ID: 16773506
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  • 67. Late onset epileptic spasms is frequent in MECP2 gene duplication: electroclinical features and long-term follow-up of 8 epilepsy patients.
    Caumes R, Boespflug-Tanguy O, Villeneuve N, Lambert L, Delanoe C, Leheup B, Bahi-Buisson N, Auvin S.
    Eur J Paediatr Neurol; 2014 Jul 01; 18(4):475-81. PubMed ID: 24703762
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  • 70. The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability.
    Ha K, Shen Y, Graves T, Kim CH, Kim HG.
    Mol Cytogenet; 2016 Jul 01; 9():74. PubMed ID: 27708714
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  • 71. 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 01; 41(1):105-9. PubMed ID: 19806472
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  • 72. The int22h1/int22h2-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer.
    Ballout RA, El-Hattab AW.
    Genes (Basel); 2021 Jun 04; 12(6):. PubMed ID: 34199727
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  • 73. Recurrent pneumonia in three patients with MECP2 duplication syndrome with aspiration as the possible cause.
    Sugitate R, Muramatsu K, Ogata T, Goto M, Hayashi S, Sawaura N, Kawada-Nagashima M, Matsui A, Yamagata T.
    Brain Dev; 2022 Aug 04; 44(7):486-491. PubMed ID: 35351320
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  • 74. Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.
    El-Hattab AW, Schaaf CP, Fang P, Roeder E, Kimonis VE, Church JA, Patel A, Cheung SW.
    BMC Med Genet; 2015 Mar 14; 16():12. PubMed ID: 25927380
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  • 75. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
    Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA.
    Neurology; 2005 Jan 25; 64(2):254-62. PubMed ID: 15668422
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  • 76. Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.
    Andersen EF, Baldwin EE, Ellingwood S, Smith R, Lamb AN.
    Am J Med Genet A; 2014 Jul 25; 164A(7):1795-801. PubMed ID: 24700761
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  • 77. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
    Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R.
    Brain; 2006 Jul 25; 129(Pt 7):1892-906. PubMed ID: 16684786
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  • 78. Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy.
    van Asbeck E, Ramalingam A, Dvorak C, Chen TJ, Morava E.
    Clin Dysmorphol; 2014 Jul 25; 23(3):77-82. PubMed ID: 24721901
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