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Journal Abstract Search

207 related items for PubMed ID: 24472332

  • 1. 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
    [Abstract] [Full Text] [Related]

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  • 3. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
    Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A.
    Clin Genet; 2013 Dec 28; 84(6):539-45. PubMed ID: 23320472
    [Abstract] [Full Text] [Related]

  • 4. MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
    Paulussen AD, Stegmann AP, Blok MJ, Tserpelis D, Posma-Velter C, Detisch Y, Smeets EE, Wagemans A, Schrander JJ, van den Boogaard MJ, van der Smagt J, van Haeringen A, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Mancini GM, Wessels MW, Hennekam RC, Vreeburg M, Geraedts J, de Ravel T, Fryns JP, Smeets HJ, Devriendt K, Schrander-Stumpel CT.
    Hum Mutat; 2011 Feb 28; 32(2):E2018-25. PubMed ID: 21280141
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  • 5. Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.
    Long A, Sinkovskaya ES, Edmondson AC, Zackai E, Schrier Vergano SA.
    Am J Med Genet A; 2016 Dec 28; 170(12):3333-3337. PubMed ID: 27568880
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  • 7. 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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  • 8. Hypoglycemia in Kabuki syndrome.
    Subbarayan A, Hussain K.
    Am J Med Genet A; 2014 Feb 28; 164A(2):467-71. PubMed ID: 24311525
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  • 9. 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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  • 10. Kabuki syndrome: international consensus diagnostic criteria.
    Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N, Kabuki Syndrome Medical Advisory Board.
    J Med Genet; 2019 Feb 09; 56(2):89-95. PubMed ID: 30514738
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  • 11. 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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  • 12. 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 09; 37(9):847-64. PubMed ID: 27302555
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  • 13. Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.
    Kokitsu-Nakata NM, Petrin AL, Heard JP, Vendramini-Pittoli S, Henkle LE, dos Santos DV, Murray JC, Richieri-Costa A.
    Am J Med Genet A; 2012 Aug 09; 158A(8):2003-8. PubMed ID: 22740433
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  • 14. Congenital heart defects in molecularly proven Kabuki syndrome patients.
    Digilio MC, Gnazzo M, Lepri F, Dentici ML, Pisaneschi E, Baban A, Passarelli C, Capolino R, Angioni A, Novelli A, Marino B, Dallapiccola B.
    Am J Med Genet A; 2017 Nov 09; 173(11):2912-2922. PubMed ID: 28884922
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  • 15. 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 09; 35(7):e314-6. PubMed ID: 23042018
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  • 16. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
    Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ.
    Am J Med Genet A; 2011 Jul 09; 155A(7):1511-6. PubMed ID: 21671394
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  • 17. 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 09; 107(3):627-9. PubMed ID: 22840376
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  • 18. [One novel pathologic variation in KMT2D cause Kabuki syndrome with hearing loss as the main phenotype and related research on types of deafness].
    Qiu SW, Yuan YY.
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2019 Sep 09; 33(9):820-824. PubMed ID: 31446696
    [Abstract] [Full Text] [Related]

  • 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 09; 130(6):715-24. PubMed ID: 21607748
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  • 20. A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures.
    Bekircan-Kurt CE, Şimşek-Kiper PÖ, Boduroğlu K, Dericioğlu N.
    Turk J Pediatr; 2016 Dec 09; 58(1):97-100. PubMed ID: 27922244
    [Abstract] [Full Text] [Related]

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