Publications

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Journal Article
Atalay YO, Kaya C, Ustun YB, Sahinoglu AH. "Anesthesia management in a patient with kabuki syndrome." Med Arch. 2014;68(5):359-60. Abstract
Geneviève D, Amiel J, Viot G, et al. "Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature." Am. J. Med. Genet. A. 2004;129A(1):64-8. Abstract
Tanaka R, Takenouchi T, Uchida K, et al. "Congenital corneal staphyloma as a complication of Kabuki syndrome." Am. J. Med. Genet. A. 2012;158A(8):2000-2. Abstract
Niikawa N, Kuroki Y, Kajii T, et al. "Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients." Am. J. Med. Genet.. 1988;31(3):565-89. Abstract
Utine GE, Alanay Y, Atkaş D, Boduroğlu K, Alikaşifoğlu M, Tunçbilek E. "Kabuki syndrome and trisomy 10p." Genet. Couns.. 2008;19(3):291-300. Abstract
Ang S-Y, Uebersohn A, Spencer IC, et al. "KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation." Development. 2016;143(5):810-21. Abstract
Miyake N, Koshimizu E, Okamoto N, et al. "MLL2 and KDM6A mutations in patients with Kabuki syndrome." Am. J. Med. Genet. A. 2013;161(9):2234-43. Abstract
Li Y, Bögershausen N, Alanay Y, et al. "A mutation screen in patients with Kabuki syndrome." Human genetics. 2011. Abstract
Moosmann J, Uebe S, Dittrich S, Rüffer A, Ekici AB, Toka O. "Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases." PLoS ONE. 2015;10(5):e0126873. Abstract
Upton S, Stadter CS, Landis P, Wulfsberg EA. "Speech characteristics in the Kabuki syndrome." Am. J. Med. Genet. A. 2003;116A(4):338-41. Abstract
Ikezumi Y, Kabuki N, Hayakawa H, Matsui T, Gunji T, Uchiyama M. "Two patients with arthrogryposis-renal tubular dysfunction-cholestasis syndrome in a Japanese family." Pediatr Int. 2006;48(4):416-9.