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Journal Abstract Search

230 related items for PubMed ID: 26420639

  • 1. Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
    El Chehadeh S, Faivre L, Mosca-Boidron AL, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset JM, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont JP, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor MC, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk PS, Devillard F, Coutton C, Lacombe D, Delrue MA, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Des Portes V, Guibaud L.
    Am J Med Genet A; 2016 Jan; 170A(1):116-29. PubMed ID: 26420639
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  • 2. 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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  • 4. 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
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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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  • 13. 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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  • 14. 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
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  • 15. 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; 64(12):104367. PubMed ID: 34678473
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  • 16. Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.
    Clayton-Smith J, Walters S, Hobson E, Burkitt-Wright E, Smith R, Toutain A, Amiel J, Lyonnet S, Mansour S, Fitzpatrick D, Ciccone R, Ricca I, Zuffardi O, Donnai D.
    Eur J Hum Genet; 2009 Apr; 17(4):434-43. PubMed ID: 18854860
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  • 18. 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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  • 19. 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
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