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Journal Abstract Search

320 related items for PubMed ID: 21658225

  • 1. 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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  • 2. 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 09; 84(6):539-45. PubMed ID: 23320472
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  • 3. MLL2 and KDM6A mutations in patients with Kabuki syndrome.
    Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N.
    Am J Med Genet A; 2013 Sep 09; 161A(9):2234-43. PubMed ID: 23913813
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  • 4. 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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  • 9. 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 09; 32(2):E2018-25. PubMed ID: 21280141
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  • 12. Holoprosencephaly in Kabuki syndrome.
    Daly T, Roberts A, Yang E, Mochida GH, Bodamer O.
    Am J Med Genet A; 2020 Mar 09; 182(3):441-445. PubMed ID: 31846209
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  • 13. Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.
    Haanpää M, Schlecht H, Batra G, Clayton-Smith J, Douzgou S.
    Am J Med Genet A; 2017 Apr 09; 173(4):1115-1118. PubMed ID: 28256057
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  • 16. Clinical and molecular characteristics of Korean patients with Kabuki syndrome.
    Yoon JH, Hwang S, Bae H, Kim D, Seo GH, Koh JY, Ju YS, Do HS, Kim S, Kim GH, Kim JH, Choi JH, Lee BH.
    J Hum Genet; 2024 Sep 09; 69(9):417-423. PubMed ID: 38824232
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  • 17. 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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  • 18. Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases.
    Parisi L, Di Filippo T, Roccella M.
    Minerva Pediatr; 2015 Aug 09; 67(4):369-75. PubMed ID: 26129805
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  • 19. Growth pattern in Kabuki syndrome with a KMT2D mutation.
    Schott DA, Blok MJ, Gerver WJ, Devriendt K, Zimmermann LJ, Stumpel CT.
    Am J Med Genet A; 2016 Dec 09; 170(12):3172-3179. PubMed ID: 27530205
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  • 20. 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 09; 20(4):381-8. PubMed ID: 22126750
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