Publications

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1997
Wappler F, Standl T. "[Special anesthesiological aspects in patients with Niikawa-Kuroki ("Kabuki Make-Up") syndrome]." Anasthesiol Intensivmed Notfallmed Schmerzther. 1997;32(3):197-200. Abstract
1998
Ewart-Toland A, Enns GM, Cox VA, Mohan GC, Rosenthal P, Golabi M. "Severe congenital anomalies requiring transplantation in children with Kabuki syndrome." Am. J. Med. Genet.. 1998;80(4):362-7. Abstract
Dodé C, Weil D, Levilliers J, et al. "Sequence characterization of a newly identified human alpha-tubulin gene (TUBA2)." Genomics. 1998;47(1):125-30. Abstract
2000
Van Lierde KM, Van Borsel J, Van Cauwenberge P. "Speech patterns in Kabuki make-up syndrome: a case report." J Commun Disord. 2000;33(6):447-61; quiz 461-2. Abstract
2003
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
2005
Ben-Omran T, Teebi AS. "Structural central nervous system (CNS) anomalies in Kabuki syndrome." Am. J. Med. Genet. A. 2005;137(1):100-3.
Ciprero KL, Clayton-Smith J, Donnai D, Zimmerman RA, Zackai EH, Ming JE. "Symptomatic Chiari I malformation in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):273-5. Abstract
2006
McMahon CJ, Reardon W. "The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome." Cardiol Young. 2006;16(1):30-3. Abstract
Hamdi Kamel M, Gilmartin B, Mohan P, Hickey DP. "Successful long-term outcome of kidney transplantation in a child with Kabuki syndrome." Pediatr Transplant. 2006;10(1):105-7. Abstract
2008
Rodríguez L, Diego-Alvarez D, Lorda-Sanchez I, et al. "A small and active ring X chromosome in a female with features of Kabuki syndrome." Am. J. Med. Genet. A. 2008;146A(21):2816-21. Abstract
2009
Torii Y, Yagasaki H, Tanaka H, et al. "Successful treatment with rituximab of refractory idiopathic thrombocytopenic purpura in a patient with Kabuki syndrome." Int. J. Hematol.. 2009;90(2):174-6. Abstract
2010
Lodi M, Chifari R, Parazzini C, et al. "Seizures and EEG pattern in Kabuki syndrome." Brain Dev.. 2010;32(10):829-34. Abstract
2011
Kim NG, Kim HJ, Hwang J-M. "Strabismus and poor stereoacuity associated with Kabuki syndrome." Korean J Ophthalmol. 2011;25(2):136-8. Abstract
Hannibal MC, Buckingham KJ, Ng SB, et al. "Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome." Am. J. Med. Genet. A. 2011;155A(7):1511-6. Abstract
2012
Wada A, Nakamura T, Yamaguchi T, et al. "Surgical treatment of hip dislocation in Kabuki syndrome: use of incomplete periacetabular osteotomy for posterior acetabular wall deficiency." J Child Orthop. 2012;6(4):261-7. Abstract
Bögershausen N, Bruford E, Wollnik B. "Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases." Clin. Genet.. 2012. Abstract
2015
Roma D, Palma P, Capolino R, et al. "Spinal ependymoma in a patient with Kabuki syndrome: a case report." BMC Med. Genet.. 2015;16:80. Abstract
Yoon JK, Ahn KJ, Kwon BS, et al. "The strong association of left-side heart anomalies with Kabuki syndrome." Korean J Pediatr. 2015;58(7):256-62. Abstract
Morgan AT, Mei C, Da Costa A, et al. "Speech and language in a genotyped cohort of individuals with Kabuki syndrome." Am. J. Med. Genet. A. 2015. Abstract