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Journal Abstract Search

143 related items for PubMed ID: 20082459

  • 1.
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  • 2. 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; 176(3):551-559. PubMed ID: 29341460
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  • 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
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  • 4. 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; 164A(4):924-33. PubMed ID: 24478188
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  • 5. Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.
    Sinibaldi L, Parisi V, Lanciotti S, Fontana P, Kuechler A, Baujat G, Torres B, Koetting J, Splendiani A, Postorivo D, Beygo J, Garaci FG, Malan V, Lüdecke HJ, Guida V, Krumbiegel M, Lonardo F, Novelli A, Albrecht B, Perria C, Scarano G, Spielmann M, Nardone AM, Battaglia A, Brancati F, Bernardini L.
    Clin Genet; 2019 Sep; 96(3):246-253. PubMed ID: 31090057
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  • 7. 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; 59(6-7):347-53. PubMed ID: 27180140
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  • 9. 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; 18(6):847-58. PubMed ID: 18385275
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  • 12. Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.
    Reardon W, Donoghue V, Murphy AM, King MD, Mayne PD, Horn N, Birk Møller L.
    Eur J Pediatr; 2010 Aug; 169(8):941-9. PubMed ID: 20177701
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  • 16. 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; 55(6-7):404-13. PubMed ID: 22522176
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  • 18. [Advance in research on MECP2 [corrected] duplication syndrome].
    Zhang Q, Bao X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Jun; 32(3):426-9. PubMed ID: 26037367
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  • 19. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
    El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, Doco-Fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-Boidron AL, Mugneret F, Le Meur N, Goldenberg A, Guerrot AM, Chambon P, Satre V, Coutton C, Jouk PS, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard ML, Addor MC, Lebon S, Martinet D, Alessandri JL, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet AC, Thevenon J, Thauvin-Robinet C, Perreton N, Des Portes V, Faivre L.
    Clin Genet; 2017 Apr; 91(4):576-588. PubMed ID: 27761913
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