Publications

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Elsherbiny SM. "Macular deposits: a new feature of Kabuki syndrome?" J Pediatr Ophthalmol Strabismus. 2002;39(4):251-3.
Lindfield D, Griffiths MFP, Thompson DA, Moore AT. "Macular dystrophy in kabuki syndrome: a new clinical feature?" J Pediatr Ophthalmol Strabismus. 2011;48:e40-2. Abstract
Nishizaki N, Fujinaga S, Hirano D, et al. "Membranoproliferative glomerulonephritis Type 3 associated with Kabuki syndrome." Clin. Nephrol.. 2012. Abstract
Verloes A, Lesenfants S, Philippet B, Iyawa A, Laloux F, Koulischer L. "Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome." Genet. Couns.. 1996;7(4):277-82. Abstract
Fong CT, Wang M, Young EC, et al. "Microtia associated with the Kabuki (Niikawa-Kuroki) syndrome." Otolaryngol Head Neck Surg. 2001;125(5):557-8.
Riess A, Dufke A, Riess O, et al. "Mirror-image asymmetry in monozygotic twins with kabuki syndrome." Mol Syndromol. 2012;3(2):94-7. 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
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
Paulussen ADC, Stegmann APA, Blok MJ, et al. "MLL2 mutation spectrum in 45 patients with Kabuki syndrome." Hum. Mutat.. 2010. Abstract
Kuniba H, Yoshiura K-ichiro, Kondoh T, et al. "Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome." J. Hum. Genet.. 2009;54(5):304-9. Abstract
Hamahata A, Kamei W, Ishikawa M, Konoeda H, Yamaki T, Sakurai H. "Multiple Pilomatricomas in Kabuki Syndrome." Pediatr Dermatol. 2012. Abstract
Li Y, Bögershausen N, Alanay Y, et al. "A mutation screen in patients with Kabuki syndrome." Human genetics. 2011. Abstract
Micale L, Augello B, Fusco C, et al. "Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients." Orphanet J Rare Dis. 2011;6:38. Abstract