Publications

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Weir RAP, Alston AF, Ali MA-D. "Acute myocardial infarction in Kabuki syndrome: chance occurrence or a novel risk factor for premature atherosclerosis?" Int. J. Cardiol.. 2014;176(1):e26-8.
Abd SE, Wilson L, Howlin P, Patton MA, Wintgens AM, Wilson R. "Agenesis of the corpus callosum in Turner syndrome with ring X." Dev Med Child Neurol. 1997;39(2):119-24. Abstract
Hoffman JD, Zhang Y, Greshock J, et al. "Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome." J. Med. Genet.. 2005;42(1):49-53. Abstract
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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.
Schulz Y, Freese L, Mänz J, et al. "CHARGE and Kabuki syndromes: A phenotypic and molecular link." Hum. Mol. Genet.. 2014. Abstract
Suskind DL, Finn L, Wahbeh G, Christie D, Horslen S. "A child with Kabuki syndrome and primary sclerosing cholangitis successfully treated with ursodiol and cholestryamine." J. Pediatr. Gastroenterol. Nutr.. 2006;43(4):542-4.
Courcet J-B, Faivre L, Michot C, et al. "Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome." J. Pediatr.. 2013. Abstract
McGaughran JM, Aftimos S, Jefferies C, Winship I. "Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand." Clin. Dysmorphol.. 2001;10(4):257-62. 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
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Michot C, Corsini C, Sanlaville D, et al. "Finger creases lend a hand in Kabuki syndrome." Eur J Med Genet. 2013. Abstract
Armstrong L, Abd El Moneim A, Aleck K, et al. "Further delineation of Kabuki syndrome in 48 well-defined new individuals." Am. J. Med. Genet. A. 2005;132A(3):265-72. Abstract
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White SM, Thompson EM, Kidd A, et al. "Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome." Am. J. Med. Genet. A. 2004;127A(2):118-27. Abstract
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Bjornsson HT, Benjamin JS, Zhang L, et al. "Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome." Sci Transl Med. 2014;6(256):256ra135. Abstract
Banka S, Veeramachaneni R, Reardon W, et al. "How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum." Eur. J. Hum. Genet.. 2012;20(4):381-8. Abstract
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Loviglio MN, Beck CR, White JJ, et al. "Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics." Genome Medicine. 2016.
Lin J-L, Lee W-I, Huang J-L, et al. "Immunologic Assessment and KMT2D mutation detection in Kabuki Syndrome." Clin. Genet.. 2014. Abstract
K
Wellesley DG, Slaney S. "Kabuki make-up and Turner syndromes in the same patient." Clin. Dysmorphol.. 1994;3(4):297-300. Abstract
Hostoffer RW, Bay CA, Wagner K, et al. "Kabuki make-up syndrome associated with an acquired hypogammaglobulinemia and anti-IgA antibodies." Clin Pediatr (Phila). 1996;35(5):273-6.
Watanabe T, Miyakawa M, Satoh M, Abe T, Oda Y. "Kabuki make-up syndrome associated with chronic idiopathic thrombocytopenic purpura." Acta Paediatr Jpn. 1994;36(6):727-9. Abstract
Wang LC, Chiu IS, Wang PJ, et al. "Kabuki make-up syndrome associated with congenital heart disease." Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1994;35(1):63-9. Abstract
Chrzanowska KH, Krajewska-Walasek M, Kuś J, et al. "Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency." Clin. Genet.. 1998;53(4):308-12. Abstract
Schrander-Stumpel CTRM, Meinecke P, Wilson GN, et al. "The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients." Eur. J. Pediatr.. 1994;153(6):438-45. Abstract
Liu S, Hong X, Shen C, et al. "Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations." BMC Med. Genet.. 2015;16(1):26. Abstract
Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ. "Kabuki syndrome: a review study of three hundred patients." Clin. Dysmorphol.. 2002;11(2):95-102. Abstract
Chen C-P, Lin S-P, Tsai F-J, Chern S-R, Wang W. "Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation." Fertil. Steril.. 2008;89(6):1826.e5-7. Abstract