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178 related items for PubMed ID: 19664534

  • 1. 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; 41(3):187-91. PubMed ID: 19664534
    [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
    [Abstract] [Full Text] [Related]

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

  • 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
    [Abstract] [Full Text] [Related]

  • 5. 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; 18(4):475-81. PubMed ID: 24703762
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome.
    Buoni S, Zannolli R, Felice CD, Saponari S, Strambi M, Dotti MT, Castrucci E, Corbini L, Orsi A, Hayek J.
    Clin Neurophysiol; 2008 Nov; 119(11):2455-8. PubMed ID: 18842453
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients.
    Santos M, Temudo T, Kay T, Carrilho I, Medeira A, Cabral H, Gomes R, Lourenço MT, Venâncio M, Calado E, Moreira A, Oliveira G, Maciel P.
    J Child Neurol; 2009 Jan; 24(1):49-55. PubMed ID: 19168818
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. A novel familial MECP2 mutation in a young boy: clinical and molecular findings.
    Ventura P, Galluzzi R, Bacca SM, Giorda R, Massagli A.
    Neurology; 2006 Sep 12; 67(5):867-8. PubMed ID: 16966553
    [Abstract] [Full Text] [Related]

  • 13. Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.
    Honda S, Satomura S, Hayashi S, Imoto I, Nakagawa E, Goto Y, Inazawa J, Japanese Mental Retardation Consortium.
    J Hum Genet; 2012 Jan 12; 57(1):73-7. PubMed ID: 22129561
    [Abstract] [Full Text] [Related]

  • 14. MECP2 duplication syndrome in a patient from Cameroon.
    Tekendo-Ngongang C, Dahoun S, Nguefack S, Moix I, Gimelli S, Zambo H, Morris MA, Sloan-Béna F, Wonkam A.
    Am J Med Genet A; 2020 Apr 12; 182(4):619-622. PubMed ID: 32052928
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
    Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset JM, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont JP, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk PS, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan JM, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri JL, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron AL, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet AC, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, El Chehadeh S.
    J Med Genet; 2018 Jun 10; 55(6):359-371. PubMed ID: 29618507
    [Abstract] [Full Text] [Related]

  • 17. Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients.
    Shimada S, Okamoto N, Hirasawa K, Yoshii K, Tani Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T.
    Am J Med Genet A; 2013 Jul 10; 161A(7):1779-85. PubMed ID: 23704079
    [Abstract] [Full Text] [Related]

  • 18. A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections.
    Xu X, Xu Q, Zhang Y, Zhang X, Cheng T, Wu B, Ding Y, Lu P, Zheng J, Zhang M, Qiu Z, Yu X.
    BMC Med Genet; 2012 Aug 21; 13():75. PubMed ID: 22909152
    [Abstract] [Full Text] [Related]

  • 19. 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 21; 96(3):246-253. PubMed ID: 31090057
    [Abstract] [Full Text] [Related]

  • 20. Methyl-CpG-binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation.
    Parmeggiani A, Tedde MR, Arbizzani A, Posar A, Scaduto MC, Santucci M, Sangiorgi S.
    J Child Neurol; 2009 Jun 21; 24(6):772-4. PubMed ID: 19189931
    [Abstract] [Full Text] [Related]

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