Publications

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Journal Article
Oto J, Mano A, Nakataki E, et al. "An adult patient with Kabuki syndrome presenting with Henoch-Schönlein purpura complicated with pulmonary hemorrhage." J Anesth. 2008;22(4):460-3. 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
Kashiwagi Y, Numabe H, Kawashima H, et al. "A case report of Kabuki make-up syndrome with cytomegalovirus infection." J. Infect.. 2004;48(3):278-82. Abstract
Anandan M, Porter NJ, Nemeth AH, Blair E, Downes SM. "Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome)." Ophthalmic Genet.. 2005;26(4):181-3. Abstract
Martínez-Lage JF, Felipe-Murcia M, Navarro EG, Almagro M-J, López-Guerrero AL, Pérez-Espejo MA. "Craniosynostosis in Kabuki syndrome." J Neurosurg Pediatr. 2010;6(2):198-201. Abstract
Miyake N, Tsurusaki Y, Koshimizu E, et al. "Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations." Clin. Genet.. 2015. Abstract
Niikawa N, Kuroki Y, Kajii T. "The dermatoglyphic pattern of the Kabuki make-up syndrome." Clin. Genet.. 1982;21(5):315-20. Abstract
Lerone M, Priolo M, Naselli A, Vignolo M, Romeo G, Silengo MC. "Ectodermal abnormalities in Kabuki syndrome." Am. J. Med. Genet.. 1997;73(3):263-6. Abstract
Rangasamy S, D'Mello SR, Narayanan V. "Epigenetics, autism spectrum, and neurodevelopmental disorders." Neurotherapeutics. 2013;10(4):742-56. Abstract
Ng SB, Bigham AW, Buckingham KJ, et al. "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome." Nat. Genet.. 2010;42(9):790-3. Abstract
Ionita-Laza I, Makarov V, Yoon S, et al. "Finding disease variants in Mendelian disorders by using sequence data: methods and applications." Am. J. Hum. Genet.. 2011;89(6):701-12. Abstract
Armstrong L, Abd El Moneim A, Aleck K, et al. "Further delineation of Kabuki syndrome in 48 well-defined new individuals." Am. J. Med. Genet. A. 2005;132A(3):265-72. Abstract
Schoumans J, Nordgren A, Ruivenkamp C, et al. "Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome." Eur. J. Hum. Genet.. 2005;13(2):260-3. Abstract
Nydegger A, Van Dyck M, Fisher RA, Jaeken J, Hardikar W. "Hardikar syndrome: long term outcome of a rare genetic disorder." Am. J. Med. Genet. A. 2008;146A(19):2468-72. Abstract
Nobili V, Marcellini M, Devito R, Capolino R, Viola L, Digilio MC. "Hepatic fibrosis in Kabuki syndrome." Am. J. Med. Genet. A. 2004;124A(2):209-12. Abstract
Loviglio MN, Beck CR, White JJ, et al. "Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics." Genome Medicine. 2016.
Igawa HH, Nishizawa N, Sugihara T, Inuyama Y. "Inner ear abnormalities in Kabuki make-up syndrome: report of three cases." Am. J. Med. Genet.. 2000;92(2):87-9. Abstract
Lo IF, Cheung LY, Ng AY, Lam ST. "Interstitial Dup(1p) with findings of Kabuki make-up syndrome." Am. J. Med. Genet.. 1998;78(1):55-7. Abstract
Nakamura M, Mizuno S, Kumagai T. "[Intervention to reduce the difficulty in kanji copying related to the visuo-spatial dysfunction in patients with Williams syndrome]." No To Hattatsu. 2010;42(5):353-8. Abstract
Niikawa N, Kuroki Y, Kajii T, et al. "Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients." Am. J. Med. Genet.. 1988;31(3):565-89. Abstract
Ilyina H, Lurie I, Naumtchik I, et al. "Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: ten new observations." Am. J. Med. Genet.. 1995;56(2):127-31. Abstract
Miyoshi O, Niikawa N. "[Kabuki make-up syndrome]." Ryoikibetsu Shokogun Shirizu. 1996;(15):317-9.
Sattur A, Deshmukh PK, Abrahim L, Naikmasur VG. "Kabuki Make-up Syndrome - A Case Report with Electromyographic study." J Clin Diagn Res. 2014;8(11):ZD03-6. Abstract
Matsumoto N, Niikawa N. "Kabuki make-up syndrome: a review." American journal of medical genetics. Part C, Seminars in medical genetics. 2003;117C(1):57-65. Abstract
Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. "Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency." J. Pediatr.. 1981;99(4):565-9. Abstract