Publications

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A
Ali M, Hom RA, Blakeslee W, Ikenouye L, Kutateladze TG. "Diverse functions of PHD fingers of the MLL/KMT2 subfamily." Biochim. Biophys. Acta. 2014;1843(2):366-71. Abstract
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Galán-Gómez E, Carbonell-Pérez JM, Cardesa-García JJ, et al. "A diagnostic conundrum: two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome?" Am. J. Med. Genet. A. 2004;125A(3):306-9. Abstract
Giudici V, Kanani M, Muthialu N, et al. "Duplicated left pulmonary artery: an unknown disease? Three case reports and review of the literature." Cardiol Young. 2015:1-7. Abstract
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Hinrichs B, Gramss B, Meinecke P. "Defective clavicles in Kabuki syndrome." Genet. Couns.. 2002;13(4):477-9.
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Lange L, Pagnamenta AT, Lise S, et al. "A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia." Clin. Genet.. 2016. Abstract
Lederer D, Grisart B, Digilio MC, et al. "Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome." Am. J. Hum. Genet.. 2012;90(1):119-24. Abstract
Lindsley AW, Saal HM, Burrow TA, et al. "Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome." J. Allergy Clin. Immunol.. 2016;137(1):179-87.e10. Abstract
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Mazzanti L, Tamburrino F, Bergamaschi R, et al. "Developmental syndromes: growth hormone deficiency and treatment." Endocr Dev. 2009;14:114-34. Abstract
Miyake N, Tsurusaki Y, Koshimizu E, et al. "Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations." Clin. Genet.. 2015. Abstract
Moral S, Zuccarino F, Loma-Osorio P. "Double aortic arch: an unreported anomaly with Kabuki syndrome." Pediatr Cardiol. 2009;30(1):82-4. Abstract
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Niikawa N, Kuroki Y, Kajii T. "The dermatoglyphic pattern of the Kabuki make-up syndrome." Clin. Genet.. 1982;21(5):315-20. Abstract
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Rocha CT, Peixoto ITA, Fernandes PM, Torres CP, de Queiroz AM. "Dental findings in Kabuki make-up syndrome: a case report." Spec Care Dentist. 2008;28(2):53-7. Abstract
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Sánchez-Carpintero R, Herranz A, Reynoso C, Zubieta JL. "Dilated vein of Galen in Kabuki syndrome." Brain & development. 2011. Abstract
Sanz JH, Lipkin P, Rosenbaum K, Mahone ME. "Developmental profile and trajectory of neuropsychological skills in a child with Kabuki syndrome: implications for assessment of syndromes associated with intellectual disability." Clin Neuropsychol. 2010;24(7):1181-92. Abstract
Silva EO, Freitas EM, Costa SM, Duarte AR. "[Down syndrome associated with clinical manifestations of Kabuki syndrome: report of a case]." J Pediatr (Rio J). 1999;75(5):367-9. Abstract
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Teixeira CS, Silva CRL, Honjo RS, Bertola DR, Albano LMJ, Kim CA. "Dental evaluation of Kabuki syndrome patients." Cleft Palate Craniofac. J.. 2009;46(6):668-73. Abstract
Toutain A, Plée Y, Ployet MJ, et al. "Deafness and Mondini dysplasia in Kabuki (Niikawa-Kuroki) syndrome. Report of a case and review of the literature." Genet. Couns.. 1997;8(2):99-105. Abstract
Tsukahara M, Kuroki Y, Imaizumi K, Miyazawa Y, Matsuo K. "Dominant inheritance of Kabuki make-up syndrome." Am. J. Med. Genet.. 1997;73(1):19-23. Abstract
Tunovic S, Barkovich J, Sherr EH, Slavotinek AM. "De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome." Am. J. Med. Genet. A. 2014;164(7):1744-9. Abstract
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Vaux KK, Jones KL, Jones MC, Schelley S, Hudgins L. "Developmental outcome in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):263-4. Abstract
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Yang P, Tan H, Xia Y, et al. "De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review." Am. J. Med. Genet. A. 2016;170(6):1613-21. Abstract