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Journal Abstract Search

267 related items for PubMed ID: 27247049

  • 21. Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome.
    Urbanowicz A, Downs J, Girdler S, Ciccone N, Leonard H.
    Am J Med Genet A; 2015 Feb; 167A(2):354-62. PubMed ID: 25428820
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  • 22. Genotype and early development in Rett syndrome: the value of international data.
    Leonard H, Moore H, Carey M, Fyfe S, Hall S, Robertson L, Wu XR, Bao X, Pan H, Christodoulou J, Williamson S, Klerk Nd.
    Brain Dev; 2005 Nov; 27 Suppl 1():S59-S68. PubMed ID: 16182492
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  • 23. 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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  • 24. 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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  • 25. 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 06; 64(12):104367. PubMed ID: 34678473
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  • 27. [MECP2 mutation in a male patient identified in the background of severe epileptic encephalopathy].
    Düh A, Till Á, Bánfai Z, Hegyi M, Melegh B, Hadzsiev K.
    Orv Hetil; 2019 Dec 06; 160(51):2036-2039. PubMed ID: 31838863
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  • 31. Spectrum of MECP2 mutations in New Zealand Rett syndrome patients.
    Raizis AM, Saleem M, MacKay R, George PM.
    N Z Med J; 2009 Jun 05; 122(1296):21-8. PubMed ID: 19652677
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  • 36. 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 05; 170A(1):116-29. PubMed ID: 26420639
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  • 39. 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 05; 118(6):e1687-95. PubMed ID: 17088400
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