Infectious and immunologic phenotype of MECP2 duplication syndrome - PubMed (original) (raw)

• MECP2 duplication syndrome in both genders.
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• Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
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• 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. El Chehadeh S, et al. Am J Med Genet A. 2016 Jan;170A(1):116-29. doi: 10.1002/ajmg.a.37384. Epub 2015 Sep 30. Am J Med Genet A. 2016. PMID: 26420639
• [Advance in research on MECP2 [corrected] duplication syndrome].
  Zhang Q, Bao X. Zhang Q, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Jun;32(3):426-9. doi: 10.3760/cma.j.issn.1003-9406.2015.03.028. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015. PMID: 26037367 Review. Chinese.
• The MECP2 duplication syndrome.
  Ramocki MB, Tavyev YJ, Peters SU. Ramocki MB, et al. Am J Med Genet A. 2010 May;152A(5):1079-88. doi: 10.1002/ajmg.a.33184. Am J Med Genet A. 2010. PMID: 20425814 Free PMC article. Review.