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Journal Abstract Search

176 related items for PubMed ID: 19018795

  • 1. The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA.
    Kirk EP, Malaty-Brevaud V, Martini N, Lacoste C, Levy N, Maclean K, Davies L, Philip N, Badens C.
    Clin Genet; 2009 Mar; 75(3):301-3. PubMed ID: 19018795
    [No Abstract] [Full Text] [Related]

  • 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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  • 3. 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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  • 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
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  • 5. Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome.
    Meins M, Lehmann J, Gerresheim F, Herchenbach J, Hagedorn M, Hameister K, Epplen JT.
    J Med Genet; 2005 Feb; 42(2):e12. PubMed ID: 15689435
    [No Abstract] [Full Text] [Related]

  • 6. 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; 170A(1):116-29. PubMed ID: 26420639
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  • 8. Novel mutations in the L1CAM gene support the complexity of L1 syndrome.
    Bertolin C, Boaretto F, Barbon G, Salviati L, Lapi E, Divizia MT, Garavelli L, Occhi G, Vazza G, Mostacciuolo ML.
    J Neurol Sci; 2010 Jul 15; 294(1-2):124-6. PubMed ID: 20447653
    [Abstract] [Full Text] [Related]

  • 9. 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 Jul 15; 135(2):93-101. PubMed ID: 21934280
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  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.
    Sinibaldi L, Parisi V, Lanciotti S, Fontana P, Kuechler A, Baujat G, Torres B, Koetting J, Splendiani A, Postorivo D, Beygo J, Garaci FG, Malan V, Lüdecke HJ, Guida V, Krumbiegel M, Lonardo F, Novelli A, Albrecht B, Perria C, Scarano G, Spielmann M, Nardone AM, Battaglia A, Brancati F, Bernardini L.
    Clin Genet; 2019 Sep 16; 96(3):246-253. PubMed ID: 31090057
    [Abstract] [Full Text] [Related]

  • 13. Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.
    Fu F, Liu HL, Li R, Han J, Yang X, Min P, Zhen L, Zhang YL, Xie GE, Lei TY, Li Y, Li J, Li DZ, Liao C.
    Gene; 2014 Aug 10; 546(2):222-5. PubMed ID: 24914495
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  • 18. [Advance in research on MECP2 [corrected] duplication syndrome].
    Zhang Q, Bao X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Jun 10; 32(3):426-9. PubMed ID: 26037367
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  • 19. Neurologic aspects of MECP2 gene duplication in male patients.
    Echenne B, Roubertie A, Lugtenberg D, Kleefstra T, Hamel BC, Van Bokhoven H, Lacombe D, Philippe C, Jonveaux P, de Brouwer AP.
    Pediatr Neurol; 2009 Sep 10; 41(3):187-91. PubMed ID: 19664534
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  • 20. [Diagnosis of MECP2 duplication syndrome with molecular genetic techniques].
    Yi Z, Wang S, Li L, Wu H, Ma Y, Qi Y, Pan H.
    Zhonghua Er Ke Za Zhi; 2014 Dec 10; 52(12):937-41. PubMed ID: 25619353
    [Abstract] [Full Text] [Related]

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