Publications

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M
Mulvihill JJ, Kaiser-Kupfer MI. "Niikawa-Kuroki (Kabuki make-up) syndrome." Am. J. Med. Genet.. 1989;33(3):425.
Morcaldi G, Boccardo F, Campisi C, Bellini T, Massocco D, Bonioli E. "Congenital lymphatic dysplasia in Kabuki syndrome: first report of an unusual association." Lymphology. 2010;43(4):188-91. Abstract
Moral S, Zuccarino F, Loma-Osorio P. "Double aortic arch: an unreported anomaly with Kabuki syndrome." Pediatr Cardiol. 2009;30(1):82-4. Abstract
Miyoshi O, Niikawa N. "[Kabuki make-up syndrome]." Ryoikibetsu Shokogun Shirizu. 1996;(15):317-9.
Miyake N, Mizuno S, Okamoto N, et al. "KDM6A Point Mutations Cause Kabuki Syndrome." Hum. Mutat.. 2013;34(1):108-10. Abstract
Miyake N, Shimokawa O, Harada N, et al. "No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients." Am. J. Med. Genet. A. 2006;140(3):291-3.
Miyake N, Harada N, Shimokawa O, et al. "On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS." Am. J. Med. Genet. A. 2004;128A(2):170-2.
Mitsudome A, Yasumoto S, Fukami S, Ogawa A. "Kabuki make-up syndrome associated with West syndrome." Acta Paediatr Jpn. 1997;39(3):392-4. Abstract
Ming JE, Russell KL, McDonald-McGinn DM, Zackai EH. "Autoimmune disorders in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):260-2. Abstract
Ming JE, Russell KL, Bason L, McDonald-McGinn DM, Zackai EH. "Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association." Am. J. Med. Genet. A. 2003;123A(3):249-52. Abstract
Milunsky JM, Maher TA, Zhao G, Huang XL, Wang Z, Zou Y. "A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome." Clin. Genet.. 2008;73(5):502-3.
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
Milunsky JM, Cheney SM. "Kabuki syndrome in a Haitian patient." Am. J. Med. Genet.. 2001;100(2):172-4.
Mihçi E, Taçoy S, Haspolat S, Karaali K. "Central nervous system abnormalities in Kabuki (Niikawa-Kuroki) syndrome." Am. J. Med. Genet.. 2002;111(4):448-9.
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
Mhanni AA, Cross HG, Chudley AE. "Kabuki syndrome: description of dental findings in 8 patients." Clin. Genet.. 1999;56(2):154-7. Abstract
Mhanni AA, Chudley AE. "Genetic landmarks through philately--Kabuki theater and Kabuki syndrome." Clin. Genet.. 1999;56(2):116-7.
Mervis CB, Becerra AM, Rowe ML, Hersh JH, Morris CA. "Intellectual abilities and adaptive behavior of children and adolescents with Kabuki syndrome: a preliminary study." Am. J. Med. Genet. A. 2005;132A(3):248-55. Abstract
McMahon CJ, Reardon W. "The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome." Cardiol Young. 2006;16(1):30-3. Abstract
McGinniss MJ, Brown DH, Burke LW, Mascarello JT, Jones MC. "Ring chromosome X in a child with manifestations of Kabuki syndrome." Am. J. Med. Genet.. 1997;70(1):37-42. Abstract
McGaughran JM, Aftimos S, Jefferies C, Winship I. "Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand." Clin. Dysmorphol.. 2001;10(4):257-62. Abstract
McGaughran JM, Donnai D, Clayton-Smith J. "Biliary atresia in Kabuki syndrome." Am. J. Med. Genet.. 2000;91(2):157-8.
Mazzanti L, Tamburrino F, Bergamaschi R, et al. "Developmental syndromes: growth hormone deficiency and treatment." Endocr Dev. 2009;14:114-34. Abstract
Matsune K, Shimizu T, Tohma T, Asada Y, Ohashi H, Maeda T. "Craniofacial and dental characteristics of Kabuki syndrome." Am. J. Med. Genet.. 2001;98(2):185-90. Abstract
Matsumura M, Yamada R, Kitani Y, et al. "Anorectal anomalies associated with Kabuki make-up syndrome." J. Pediatr. Surg.. 1992;27(12):1600-2. Abstract