Publications

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2013
Makrythanasis P, van Bon BW, Steehouwer M, et al. "MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study." Clin. Genet.. 2013. Abstract
Miyake N, Mizuno S, Okamoto N, et al. "KDM6A Point Mutations Cause Kabuki Syndrome." Hum. Mutat.. 2013;34(1):108-10. Abstract
Takagi M, Ishii T, Torii C, Kosaki K, Hasegawa T. "A novel mutation in SOX3 polyalanine tract: a case of kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3." Pituitary. 2013. Abstract
Michot C, Corsini C, Sanlaville D, et al. "Finger creases lend a hand in Kabuki syndrome." Eur J Med Genet. 2013. Abstract
Kim SJ, Cho SY, Maeng SH, et al. "A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome." Korean J Pediatr. 2013;56(8):355-8. Abstract
Berdasco M, Esteller M. "Genetic syndromes caused by mutations in epigenetic genes." Hum. Genet.. 2013;132(4):359-83. Abstract
Yuan S-M. "Congenital heart defects in Kabuki syndrome." Cardiol J. 2013;20(2):121-4. Abstract
2012
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
Kasdon BD, Fox JE. "Kabuki syndrome: diagnostic and treatment considerations." Ment Health Fam Med. 2012;9(3):171-9. Abstract
Brackmann F, Krumbholz M, Langer T, Rascher W, Holter W, Metzler M. "Novel MLL2 Mutation in Kabuki Syndrome With Hypogammaglobulinemia and Severe Chronic Thrombopenia." J. Pediatr. Hematol. Oncol.. 2012. Abstract
Zarate YA, Zhan H, Jones JR. "Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation." Mol Syndromol. 2012;3(4):180-4. Abstract
Bögershausen N, Bruford E, Wollnik B. "Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases." Clin. Genet.. 2012. Abstract
Bögershausen N, Wollnik B. "Unmasking Kabuki syndrome." Clin. Genet.. 2012. Abstract
Nishizaki N, Fujinaga S, Hirano D, et al. "Membranoproliferative glomerulonephritis Type 3 associated with Kabuki syndrome." Clin. Nephrol.. 2012. Abstract
Priolo M, Micale L, Augello B, et al. "Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome." Mol. Genet. Metab.. 2012;107(3):627-9. Abstract
Suarez Guerrero JL, Ordónez Suarez AA, Contreras García GA. "[Kabuki syndrome.]." An Pediatr (Barc). 2012. Abstract
Ito N, Ihara K, Tsutsumi Y, Miyake N, Matsumoto N, Hara T. "Hypothalamic pituitary complications in Kabuki syndrome." Pituitary. 2012. 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.
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
De Dios JAA, Javaid AA, Ballesteros E, Metersky ML. "An 18-year-old woman with Kabuki syndrome, immunoglobulin deficiency and granulomatous lymphocytic interstitial lung disease." Conn Med. 2012;76(1):15-8. Abstract
Hamahata A, Kamei W, Ishikawa M, Konoeda H, Yamaki T, Sakurai H. "Multiple Pilomatricomas in Kabuki Syndrome." Pediatr Dermatol. 2012. Abstract
Bhat AH, Davenport J, Cocalis M. "Partial Anomalous Left Pulmonary Artery along with Aortic Coarctation in an Infant with Kabuki Syndrome." Echocardiography. 2012. 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
Banka S, Howard E, Bunstone S, et al. "MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome." Clin. Genet.. 2012. Abstract
Kokitsu-Nakata NM, Petrin AL, Heard JP, et al. "Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome." Am. J. Med. Genet. A. 2012;158A(8):2003-8. Abstract