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Journal Abstract Search

231 related items for PubMed ID: 23042018

  • 1. Novel MLL2 mutation in Kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopenia.
    Brackmann F, Krumbholz M, Langer T, Rascher W, Holter W, Metzler M.
    J Pediatr Hematol Oncol; 2013 Oct; 35(7):e314-6. PubMed ID: 23042018
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  • 5. Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.
    Priolo M, Micale L, Augello B, Fusco C, Zucchetti F, Prontera P, Paduano V, Biamino E, Selicorni A, Mammì C, Laganà C, Zelante L, Merla G.
    Mol Genet Metab; 2012 Nov; 107(3):627-9. PubMed ID: 22840376
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  • 6. Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
    Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G.
    Orphanet J Rare Dis; 2011 Jun 09; 6():38. PubMed ID: 21658225
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  • 9. MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.
    Banka S, Howard E, Bunstone S, Chandler KE, Kerr B, Lachlan K, McKee S, Mehta SG, Tavares AL, Tolmie J, Donnai D.
    Clin Genet; 2013 May 09; 83(5):467-71. PubMed ID: 22901312
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  • 11. Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.
    Xin C, Wang C, Wang Y, Zhao J, Wang L, Li R, Liu J.
    BMC Med Genet; 2018 Feb 27; 19(1):31. PubMed ID: 29482518
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  • 14. Hypoglycemia in Kabuki syndrome.
    Subbarayan A, Hussain K.
    Am J Med Genet A; 2014 Feb 27; 164A(2):467-71. PubMed ID: 24311525
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  • 15. Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
    Paderova J, Drabova J, Holubova A, Vlckova M, Havlovicova M, Gregorova A, Pourova R, Romankova V, Moslerova V, Geryk J, Norambuena P, Krulisova V, Krepelova A, Macek M, Macek M.
    Eur J Med Genet; 2018 Jun 27; 61(6):315-321. PubMed ID: 29307790
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  • 16. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
    Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B.
    Hum Mutat; 2016 Sep 27; 37(9):847-64. PubMed ID: 27302555
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  • 17. Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene.
    Cappuccio G, Rossi A, Fontana P, Acampora E, Avolio V, Merla G, Zelante L, Secinaro A, Andria G, Melis D.
    BMC Med Genet; 2014 Jan 28; 15():15. PubMed ID: 24472332
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  • 18. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
    Banka S, Veeramachaneni R, Reardon W, Howard E, Bunstone S, Ragge N, Parker MJ, Crow YJ, Kerr B, Kingston H, Metcalfe K, Chandler K, Magee A, Stewart F, McConnell VP, Donnelly DE, Berland S, Houge G, Morton JE, Oley C, Revencu N, Park SM, Davies SJ, Fry AE, Lynch SA, Gill H, Schweiger S, Lam WW, Tolmie J, Mohammed SN, Hobson E, Smith A, Blyth M, Bennett C, Vasudevan PC, García-Miñaúr S, Henderson A, Goodship J, Wright MJ, Fisher R, Gibbons R, Price SM, C de Silva D, Temple IK, Collins AL, Lachlan K, Elmslie F, McEntagart M, Castle B, Clayton-Smith J, Black GC, Donnai D.
    Eur J Hum Genet; 2012 Apr 28; 20(4):381-8. PubMed ID: 22126750
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  • 19. A mutation screen in patients with Kabuki syndrome.
    Li Y, Bögershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Lehmkühler M, Demuth S, Utine GE, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Yigit G, Wieczorek D, Wollnik B.
    Hum Genet; 2011 Dec 28; 130(6):715-24. PubMed ID: 21607748
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  • 20. Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).
    Banka S, Lederer D, Benoit V, Jenkins E, Howard E, Bunstone S, Kerr B, McKee S, Lloyd IC, Shears D, Stewart H, White SM, Savarirayan R, Mancini GM, Beysen D, Cohn RD, Grisart B, Maystadt I, Donnai D.
    Clin Genet; 2015 Mar 28; 87(3):252-8. PubMed ID: 24527667
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