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Journal Abstract Search

267 related items for PubMed ID: 27247049

  • 1. Expanding the clinical picture of the MECP2 Duplication syndrome.
    Lim Z, Downs J, Wong K, Ellaway C, Leonard H.
    Clin Genet; 2017 Apr; 91(4):557-563. PubMed ID: 27247049
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  • 4. A rare MeCP2_e1 mutation first described in a male patient with severe neonatal encephalopathy.
    Soffer OD, Sidlow R.
    Am J Med Genet A; 2016 Jul; 170(7):1881-3. PubMed ID: 27090848
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  • 5. 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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  • 10. The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children.
    Giudice-Nairn P, Downs J, Wong K, Wilson D, Ta D, Gattas M, Amor D, Thompson E, Kirrali-Borri C, Ellaway C, Leonard H.
    J Paediatr Child Health; 2019 Nov; 55(11):1315-1322. PubMed ID: 30756435
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  • 12. MECP2-Related Disorders in Males.
    Pascual-Alonso A, Martínez-Monseny AF, Xiol C, Armstrong J.
    Int J Mol Sci; 2021 Sep 04; 22(17):. PubMed ID: 34502518
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  • 17. Molecular characterization of Spanish patients with MECP2 duplication syndrome.
    Pascual-Alonso A, Blasco L, Vidal S, Gean E, Rubio P, O'Callaghan M, Martínez-Monseny AF, Castells AA, Xiol C, Català V, Brandi N, Pacheco P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S, Armstrong J.
    Clin Genet; 2020 Apr 04; 97(4):610-620. PubMed ID: 32043567
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  • 18. Investigating genotype-phenotype relationships in Rett syndrome using an international data set.
    Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, Ben-Zeev B, Yatawara N, Percy A, Kaufmann WE, Leonard H.
    Neurology; 2008 Mar 11; 70(11):868-75. PubMed ID: 18332345
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  • 19. Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies.
    Sandweiss AJ, Brandt VL, Zoghbi HY.
    Lancet Neurol; 2020 Aug 11; 19(8):689-698. PubMed ID: 32702338
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