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Journal Abstract Search

144 related items for PubMed ID: 37900250

  • 21. Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2.
    Fukushi D, Yamada K, Nomura N, Naiki M, Kimura R, Yamada Y, Kumagai T, Yamaguchi K, Miyake Y, Wakamatsu N.
    Am J Med Genet A; 2014 Apr; 164A(4):924-33. PubMed ID: 24478188
    [Abstract] [Full Text] [Related]

  • 22. 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; 57(1):73-7. PubMed ID: 22129561
    [Abstract] [Full Text] [Related]

  • 23. A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty.
    Tsuji-Hosokawa A, Matsuda N, Kurosawa K, Kashimada K, Morio T.
    Horm Res Paediatr; 2017 Jan; 87(4):271-276. PubMed ID: 27649574
    [Abstract] [Full Text] [Related]

  • 24. 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]

  • 25. How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome.
    John Cherian D, Ta D, Smith J, Downs J, Leonard H.
    Children (Basel); 2023 Jul 11; 10(7):. PubMed ID: 37508699
    [Abstract] [Full Text] [Related]

  • 26. MECP2 and the biology of MECP2 duplication syndrome.
    D'Mello SR.
    J Neurochem; 2021 Oct 11; 159(1):29-60. PubMed ID: 33638179
    [Abstract] [Full Text] [Related]

  • 27. [Clinical phenotype and genetic analysis of MECP2 duplication syndrome].
    Chen D, Wang L, Hou Y, Shi P, Qin G, Kong X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Dec 10; 38(12):1190-1193. PubMed ID: 34839504
    [Abstract] [Full Text] [Related]

  • 28. [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]

  • 29. Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.
    Clayton-Smith J, Walters S, Hobson E, Burkitt-Wright E, Smith R, Toutain A, Amiel J, Lyonnet S, Mansour S, Fitzpatrick D, Ciccone R, Ricca I, Zuffardi O, Donnai D.
    Eur J Hum Genet; 2009 Apr 10; 17(4):434-43. PubMed ID: 18854860
    [Abstract] [Full Text] [Related]

  • 30. 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 10; 55(11):1315-1322. PubMed ID: 30756435
    [Abstract] [Full Text] [Related]

  • 31. 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 10; 35(5):411-9. PubMed ID: 22877836
    [Abstract] [Full Text] [Related]

  • 32. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
    Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gecz J, Moraine C, Marynen P, Fryns JP, Froyen G.
    Am J Hum Genet; 2005 Sep 10; 77(3):442-53. PubMed ID: 16080119
    [Abstract] [Full Text] [Related]

  • 33. 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]

  • 34. A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.
    Hanchard NA, Carvalho CM, Bader P, Thome A, Omo-Griffith L, del Gaudio D, Pehlivan D, Fang P, Schaaf CP, Ramocki MB, Lupski JR, Cheung SW.
    BMC Med Genet; 2012 Aug 10; 13():71. PubMed ID: 22883432
    [Abstract] [Full Text] [Related]

  • 35. 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 10; 118(6):e1687-95. PubMed ID: 17088400
    [Abstract] [Full Text] [Related]

  • 36. Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome.
    Sanmann JN, Bishay DL, Starr LJ, Bell CA, Pickering DL, Stevens JM, Kahler SG, Olney AH, Schaefer GB, Sanger WG.
    Am J Med Genet A; 2012 Jun 10; 158A(6):1285-91. PubMed ID: 22581587
    [Abstract] [Full Text] [Related]

  • 37. MECP2 duplications in six patients with complex sex chromosome rearrangements.
    Breman AM, Ramocki MB, Kang SH, Williams M, Freedenberg D, Patel A, Bader PI, Cheung SW.
    Eur J Hum Genet; 2011 Apr 10; 19(4):409-15. PubMed ID: 21119712
    [Abstract] [Full Text] [Related]

  • 38. Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
    Peters SU, Fu C, Suter B, Marsh E, Benke TA, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Kaufmann WE, Glaze DG, Neul JL, Percy AK.
    Clin Genet; 2019 May 10; 95(5):575-581. PubMed ID: 30788845
    [Abstract] [Full Text] [Related]

  • 39. Distal Xq duplication and functional Xq disomy.
    Sanlaville D, Schluth-Bolard C, Turleau C.
    Orphanet J Rare Dis; 2009 Feb 20; 4():4. PubMed ID: 19232094
    [Abstract] [Full Text] [Related]

  • 40. Phenotypic features in MECP2 duplication syndrome: Effects of age.
    Peters SU, Fu C, Marsh ED, Benke TA, Suter B, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Glaze DG, Percy AK, Neul JL.
    Am J Med Genet A; 2021 Feb 20; 185(2):362-369. PubMed ID: 33170557
    [Abstract] [Full Text] [Related]

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