Publications

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Journal Article
Cuscó I, del Campo M, Vilardell M, et al. "Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration." BMC Med. Genet.. 2008;9:27. Abstract
Okada Y, Ono S, Tomomasa T, Inoue Y, Morikawa A. "Balloon angioplasty in a patient with Kabuki make-up syndrome." Pediatr Int. 2001;43(6):694-6.
Tawa R, Kaino Y, Ito T, Goto Y, Kida K, Matsuda H. "A case of Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction." Acta Paediatr Jpn. 1994;36(4):412-5. Abstract
Ijichi O, Kawakami K, Matsuda Y, et al. "A case of Kabuki make-up syndrome with EBV+Burkitt's lymphoma." Acta Paediatr Jpn. 1996;38(1):66-8. Abstract
Taranu M, Giralt CM, Padilla CV, et al. "Case report of an adolescent girl with Kabuki syndrome and kyphoscoliosis, resistant at the conservative orthopedic treatment." Scoliosis. 2012;7 Suppl 1:P4.
Kashiwagi Y, Numabe H, Kawashima H, et al. "A case report of Kabuki make-up syndrome with cytomegalovirus infection." J. Infect.. 2004;48(3):278-82. Abstract
Aoyagi S, Kumade M, Tanaka K, Aso K, Kosuga K, Ohishi K. "[A case report of Kabuki make-up syndrome with partial anomalous pulmonary venous return and ASD]." Rinsho Kyobu Geka. 1988;8(4):415-7.
Fujishiro M, Ogihara T, Tsukuda K, et al. "A case showing an association between type 1 diabetes mellitus and Kabuki syndrome." Diabetes Res. Clin. Pract.. 2003;60(1):25-31. Abstract
Mihçi E, Taçoy S, Haspolat S, Karaali K. "Central nervous system abnormalities in Kabuki (Niikawa-Kuroki) syndrome." Am. J. Med. Genet.. 2002;111(4):448-9.
Courcet J-B, Faivre L, Michot C, et al. "Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome." J. Pediatr.. 2013. Abstract
Gürbüz F, Özalp Yüreğir Ö, Ceylaner S, Topaloğlu AK, Yüksel B. "Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis." J Clin Res Pediatr Endocrinol. 2016;8(1):105-6.
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
Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. "Congenital heart defects in Kabuki syndrome." Am. J. Med. Genet.. 2001;100(4):269-74. Abstract
Takano T, Matsuwake K, Yoshioka S, Takeuchi Y. "Congenital polymicrogyria including the perisylvian region in early childhood." Congenit Anom (Kyoto). 2010;50(1):64-7. Abstract
Matsune K, Shimizu T, Tohma T, Asada Y, Ohashi H, Maeda T. "Craniofacial and dental characteristics of Kabuki syndrome." Am. J. Med. Genet.. 2001;98(2):185-90. Abstract
Tuna EB, Marşan G, Gençay K, Seymen F. "Craniofacial and dental characteristics of Kabuki syndrome: nine years cephalometric follow-up." J Clin Pediatr Dent. 2012;36(4):393-400. 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
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
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
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
Miyake N, Tsurusaki Y, Koshimizu E, et al. "Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations." Clin. Genet.. 2015. Abstract
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
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
Mazzanti L, Tamburrino F, Bergamaschi R, et al. "Developmental syndromes: growth hormone deficiency and treatment." Endocr Dev. 2009;14:114-34. 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