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Kids with Kabuki Syndrome

Notice: This site is no longer being actively maintained. While much of the information is still relevant, some of it has become out-of-date.

There are several Facebook groups. Just search "Kabuki syndrome" from within Facebook.

For a current site see one of the following:

http://allthingskabuki.org
https://www.kabukisyndromefoundation.org

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Journal Article

Elsherbiny SM. "Macular deposits: a new feature of Kabuki syndrome?" J Pediatr Ophthalmol Strabismus. 2002;39(4):251-3.

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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

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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.

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Frans G, Meyts I, Devriendt K, Liston A, Vermeulen F, Bossuyt X. "Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome." Am. J. Med. Genet. A. 2016;170(3):801-3.

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

Miyake N, Koshimizu E, Okamoto N, et al. "MLL2 and KDM6A mutations in patients with Kabuki syndrome." Am. J. Med. Genet. A. 2013;161(9):2234-43. 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

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Micale L, Augello B, Maffeo C, et al. "Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients." Hum. Mutat.. 2014. Abstract

Paděrová J, Holubová A, Simandlová M, et al. "Molecular genetic analysis in 14 czech kabuki syndrome patients is confirming the utility of phenotypic scoring." Clin. Genet.. 2016. 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

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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

Bögershausen N, Gatinois V, Riehmer V, et al. "Mutation Update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2." Hum. Mutat.. 2016. Abstract