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Journal Abstract Search

130 related items for PubMed ID: 21821449

  • 1. MECP2 triplication in 3 brothers - a rarely described cause of familial neurological regression in boys.
    Tang SS, Fernandez D, Lazarou LP, Singh R, Fallon P.
    Eur J Paediatr Neurol; 2012 Mar; 16(2):209-12. PubMed ID: 21821449
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  • 2. 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; 118(6):e1687-95. PubMed ID: 17088400
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  • 4. 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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  • 5. Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature.
    Vignoli A, Borgatti R, Peron A, Zucca C, Ballarati L, Bonaglia C, Bellini M, Giordano L, Romaniello R, Bedeschi MF, Epifanio R, Russo S, Caselli R, Giardino D, Darra F, La Briola F, Banderali G, Canevini MP.
    Epilepsia; 2012 Jul; 53(7):1146-55. PubMed ID: 22578097
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  • 6. 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
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  • 7. Algorithmic approach for methyl-CpG binding protein 2 (MECP2) gene testing in patients with neurodevelopmental disabilities.
    Sanmann JN, Schaefer GB, Buehler BA, Sanger WG.
    J Child Neurol; 2012 Mar 01; 27(3):346-54. PubMed ID: 22123427
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  • 10. 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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  • 15. MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients.
    Moog U, Van Roozendaal K, Smeets E, Tserpelis D, Devriendt K, Buggenhout GV, Frijns JP, Schrander-Stumpel C.
    Brain Dev; 2006 Jun 01; 28(5):305-10. PubMed ID: 16376510
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  • 17. Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders.
    Wong VC, Li SY.
    J Child Neurol; 2007 Dec 01; 22(12):1397-400. PubMed ID: 18174559
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  • 18. Infantile hypotonia as a presentation of Rett syndrome.
    Heilstedt HA, Shahbazian MD, Lee B.
    Am J Med Genet; 2002 Aug 15; 111(3):238-42. PubMed ID: 12210319
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  • 20. 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 15; 35(5):411-9. PubMed ID: 22877836
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