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.
Digilio MC, Marino B. "What Is New in Genetics of Congenital Heart Defects?" Frontiers in Pediatrics. 2016;4952140A825658359945621359321121513093155A167A958171004290642879352219638418918158A33104424142481478096159323578138(381).
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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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Bögershausen N, Altunoglu U, Beleggia F, et al. "An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity." American Journal of Medical Genetics Part A. 2016;170(12):3282-3288.
Verhagen JMA, Oostdijk W, Terwisscha van Scheltinga CEJ, Schalij-Delfos NE, van Bever Y. "An unusual presentation of Kabuki syndrome: Clinical overlap with CHARGE syndrome." Eur J Med Genet. 2014;57(9):510-2. Abstract
Diaconescu S, Miron I, Gimiga N, et al. "Unusual Endoscopic Findings in Children: Esophageal and Gastric Polyps: Three Cases Report." Medicine (Baltimore). 2016;95(3):e2539. Abstract
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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Margot H, Geneviève D, Gatinois V, et al. "Typical facial gestalt in X-linked Kabuki syndrome." American Journal of Medical Genetics Part A. 2016;170(12):3363-3364.
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
Lederer D, Shears D, Benoit V, Verellen-Dumoulin C, Maystadt I. "A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A." Am. J. Med. Genet. A. 2014. 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
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