Publications

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Salpietro DC, Guarneri F, Rigoli L, Bruglia S, Guarneri C, Vaccaro M. "What syndrome is this? Kabuki make-up syndrome." Pediatr Dermatol. 2007;24(3):309-12.
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Hou J-W. "Variable expressivity in a family with Kabuki make-up (Niikawa-Kuroki) syndrome." Chang Gung Med J. 2004;27(4):307-11. Abstract
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Milunsky JM, Huang XL. "Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH." Clin. Genet.. 2003;64(6):509-16. Abstract
Bögershausen N, Wollnik B. "Unmasking Kabuki syndrome." Clin. Genet.. 2012. Abstract
Schrander-Stumpel CTRM, Theunissen PM, Hulsmans RF, Fryns J-P. "Unknown. The combination of vitiligo vulgaris with somatic and psychomotor retardation, cleft palate and facial dysmorphism: a distinct entity?" Genet. Couns.. 1991;2(4):259-61.
van Haelst MM, Brooks AS, Hoogeboom J, et al. "Unexpected life-threatening complications in Kabuki syndrome." Am. J. Med. Genet.. 2000;94(2):170-3. Abstract
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Bereket A, Turan S, Alper G, Comu S, Alpay H, Akalin F. "Two patients with Kabuki syndrome presenting with endocrine problems." J. Pediatr. Endocrinol. Metab.. 2001;14(2):215-20. 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.
Shieh JTC, Hudgins L, Cherry AM, Shen Z, Hoyme EH. "Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome." Am. J. Med. Genet. A. 2006;140(2):170-3. Abstract
Grunseich C, Fishbein TM, Berkowitz F, Shamim EA. "Tremor and deep brain nuclei hyperintensities in Kabuki syndrome." Pediatr. Neurol.. 2010;43(2):148-50. Abstract
Ramachandran M, Kay RM, Skaggs DL. "Treatment of hip dislocation in Kabuki syndrome: a report of three hips in two patients." J Pediatr Orthop. 2007;27(1):37-40. Abstract
Dhar SS, Lee S-H, Kan P-Y, et al. "Trans-tail regulation of MLL4-catalyzed H3K4 methylation by H4R3 symmetric dimethylation is mediated by a tandem PHD of MLL4." Genes Dev.. 2012;26(24):2749-62. Abstract
Dennis NR, Collins AL, Crolla JA, Cockwell AE, Fisher AM, Jacobs PA. "Three patients with ring (X) chromosomes and a severe phenotype." J. Med. Genet.. 1993;30(6):482-6. Abstract
Wilson GN. "Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management." Am. J. Med. Genet.. 1998;79(2):112-20. Abstract
Di Gennaro G, Sebastiano F, Quarato PP, Albertini G, Majolini L, Onorati P. "Temporo-occipital spikes: are they so typical for Kabuki syndrome?" Pediatr. Neurol.. 2004;31(5):379; author reply 379-80.
Oksanen VE, Arvio MA, Peippo MM, Valanne LK, Sainio KO. "Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome." Pediatr. Neurol.. 2004;30(1):67-70. Abstract
Kramer S, Seitz B, Käsmann-Kellner B. "[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy]." Ophthalmologe. 2010;107(2):182-5. Abstract
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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
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
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
Ben-Omran T, Teebi AS. "Structural central nervous system (CNS) anomalies in Kabuki syndrome." Am. J. Med. Genet. A. 2005;137(1):100-3.
Kim NG, Kim HJ, Hwang J-M. "Strabismus and poor stereoacuity associated with Kabuki syndrome." Korean J Ophthalmol. 2011;25(2):136-8. Abstract
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
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
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