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4. 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; 20(4):381-8. PubMed ID: 22126750 [TBL] [Abstract][Full Text] [Related]
5. 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; 130(6):715-24. PubMed ID: 21607748 [TBL] [Abstract][Full Text] [Related]
6. 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; 161A(9):2234-43. PubMed ID: 23913813 [TBL] [Abstract][Full Text] [Related]
7. 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; 6():38. PubMed ID: 21658225 [TBL] [Abstract][Full Text] [Related]
8. 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; 15():15. PubMed ID: 24472332 [TBL] [Abstract][Full Text] [Related]
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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; 83(5):467-71. PubMed ID: 22901312 [TBL] [Abstract][Full Text] [Related]
12. 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; 58(1):97-100. PubMed ID: 27922244 [TBL] [Abstract][Full Text] [Related]
13. 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 [TBL] [Abstract][Full Text] [Related]
20. Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. Cheon CK; Sohn YB; Ko JM; Lee YJ; Song JS; Moon JW; Yang BK; Ha IS; Bae EJ; Jin HS; Jeong SY J Hum Genet; 2014 Jun; 59(6):321-5. PubMed ID: 24739679 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]