Publications
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KDM6A Point Mutations Cause Kabuki Syndrome." Hum. Mutat.. 2013;34(1):108-10. Abstract
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Finger creases lend a hand in Kabuki syndrome." Eur J Med Genet. 2013. Abstract
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A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome." Korean J Pediatr. 2013;56(8):355-8. Abstract
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Genetic syndromes caused by mutations in epigenetic genes." Hum. Genet.. 2013;132(4):359-83. Abstract
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Congenital heart defects in Kabuki syndrome." Cardiol J. 2013;20(2):121-4. Abstract
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Craniofacial and dental characteristics of Kabuki syndrome: nine years cephalometric follow-up." J Clin Pediatr Dent. 2012;36(4):393-400. Abstract
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Kabuki syndrome: diagnostic and treatment considerations." Ment Health Fam Med. 2012;9(3):171-9. Abstract
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Novel MLL2 Mutation in Kabuki Syndrome With Hypogammaglobulinemia and Severe Chronic Thrombopenia." J. Pediatr. Hematol. Oncol.. 2012. Abstract
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Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation." Mol Syndromol. 2012;3(4):180-4. Abstract
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Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases." Clin. Genet.. 2012. Abstract
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Unmasking Kabuki syndrome." Clin. Genet.. 2012. Abstract
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Membranoproliferative glomerulonephritis Type 3 associated with Kabuki syndrome." Clin. Nephrol.. 2012. Abstract
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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
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[Kabuki syndrome.]." An Pediatr (Barc). 2012. Abstract
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Hypothalamic pituitary complications in Kabuki syndrome." Pituitary. 2012. Abstract
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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
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Multiple Pilomatricomas in Kabuki Syndrome." Pediatr Dermatol. 2012. Abstract
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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
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Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome." Am. J. Med. Genet. A. 2012;158A(8):2003-8. Abstract
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