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Journal Abstract Search

208 related items for PubMed ID: 26037367

  • 1. [Advance in research on MECP2 [corrected] duplication syndrome].
    Zhang Q, Bao X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Jun; 32(3):426-9. PubMed ID: 26037367
    [Abstract] [Full Text] [Related]

  • 2. De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation.
    Mayo S, Monfort S, Roselló M, Orellana C, Oltra S, Armstrong J, Català V, Martínez F.
    Cytogenet Genome Res; 2011 Jun; 135(2):93-101. PubMed ID: 21934280
    [Abstract] [Full Text] [Related]

  • 3. 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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  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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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  • 10. MECP2 duplication: possible cause of severe phenotype in females.
    Scott Schwoerer J, Laffin J, Haun J, Raca G, Friez MJ, Giampietro PF.
    Am J Med Genet A; 2014 Apr; 164A(4):1029-34. PubMed ID: 24458799
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  • 11. 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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  • 12. De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.
    Grasshoff U, Bonin M, Goehring I, Ekici A, Dufke A, Cremer K, Wagner N, Rossier E, Jauch A, Walter M, Bauer C, Bauer P, Horber K, Beck-Woedl S, Wieczorek D.
    Eur J Hum Genet; 2011 May; 19(5):507-12. PubMed ID: 21326285
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  • 13. De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features.
    Makrythanasis P, Moix I, Gimelli S, Fluss J, Aliferis K, Antonarakis SE, Morris MA, Béna F, Bottani A.
    Clin Genet; 2010 Aug; 78(2):175-80. PubMed ID: 20236124
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  • 15. Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.
    Li X, Xie H, Chen Q, Yu X, Yi Z, Li E, Zhang T, Wang J, Zhong J, Chen X.
    BMC Med Genet; 2017 Nov 15; 18(1):131. PubMed ID: 29141583
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  • 16. The MECP2 duplication syndrome.
    Ramocki MB, Tavyev YJ, Peters SU.
    Am J Med Genet A; 2010 May 15; 152A(5):1079-88. PubMed ID: 20425814
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  • 18. Lack of MECP2 gene transcription on the duplicated alleles of two related asymptomatic females with Xq28 duplications and opposite X-chromosome inactivation skewing.
    Sun Y, Yang Y, Luo Y, Chen M, Wang L, Huang Y, Yang Y, Dong M.
    Hum Mutat; 2021 Nov 15; 42(11):1429-1442. PubMed ID: 34273908
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  • 19. MECP2 duplication syndrome in a Chinese family.
    Zhang Q, Zhao Y, Yang Y, Bao X.
    BMC Med Genet; 2015 Dec 16; 16():112. PubMed ID: 26672597
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  • 20. 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 16; 170A(1):116-29. PubMed ID: 26420639
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