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Journal Abstract Search

141 related items for PubMed ID: 34199727

  • 21. The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints.
    Honda S, Hayashi S, Nakane T, Imoto I, Kurosawa K, Mizuno S, Okamoto N, Kato M, Yoshihashi H, Kubota T, Nakagawa E, Goto Y, Inazawa J.
    Am J Med Genet A; 2012 Jun; 158A(6):1292-303. PubMed ID: 22528406
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  • 22. Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.
    Billes A, Pujalte M, Jedraszak G, Amsallem D, Boudry-Labis E, Boute O, Bouquillon S, Brischoux-Boucher E, Callier P, Coutton C, Denizet AA, Dieterich K, Kuentz P, Lespinasse J, Mazel B, Morin G, Amram F, Pennamen P, Rio M, Piard J, Putoux A, Rama M, Roze-Guillaumey V, Schluth-Bolard C, Till M, Trouvé C, Vieville G, Rooryck C, Sanlaville D, Chatron N.
    Clin Genet; 2024 Sep; 106(3):234-246. PubMed ID: 38561231
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  • 23. X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.
    Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N, Ullmann R, de Brouwer AP, Strømme P, Kjaergaard S, Tümer Z, Kleefstra T.
    Hum Genet; 2014 May; 133(5):625-38. PubMed ID: 24326587
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  • 24. 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
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  • 25. [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; 52(12):937-41. PubMed ID: 25619353
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  • 26. 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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  • 36. Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.
    Bartsch O, Gebauer K, Lechno S, van Esch H, Froyen G, Bonin M, Seidel J, Thamm-Mücke B, Horn D, Klopocki E, Hertzberg C, Zechner U, Haaf T.
    Am J Med Genet A; 2010 Feb; 152A(2):305-12. PubMed ID: 20082459
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  • 37. [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
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  • 38. Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.
    Smyk M, Obersztyn E, Nowakowska B, Nawara M, Cheung SW, Mazurczak T, Stankiewicz P, Bocian E.
    Am J Med Genet B Neuropsychiatr Genet; 2008 Sep 05; 147B(6):799-806. PubMed ID: 18165974
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  • 39. 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 Sep 05; 87(4):271-276. PubMed ID: 27649574
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  • 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 05; 185(2):362-369. PubMed ID: 33170557
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