Publications

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1981
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
1982
Niikawa N, Kuroki Y, Kajii T. "The dermatoglyphic pattern of the Kabuki make-up syndrome." Clin. Genet.. 1982;21(5):315-20. Abstract
1985
Ohdo S, Madokoro H, Sonoda T, Nishiguchi T, Kawaguchi K, Hayakawa K. "Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease." J. Med. Genet.. 1985;22(2):126-7. Abstract
Kaneko H, Suma K, Takeuchi Y, et al. "[An operative case of Kabuki make-up syndrome with ASD and pulmonary hypertension]." Kyobu Geka. 1985;38(9):737-40.
1988
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
1991
Handa Y, Maeda K, Toida M, et al. "Kabuki make-up syndrome (Niikawa-Kuroki syndrome) with cleft lip and palate." J Craniomaxillofac Surg. 1991;19(3):99-101. Abstract
1992
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
1995
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
1996
Miyoshi O, Niikawa N. "[Kabuki make-up syndrome]." Ryoikibetsu Shokogun Shirizu. 1996;(15):317-9.
Van Hagen JM, Kwee ML, Madan K, Nieuwint AW, Pals G, ten Kate LP. "Kabuki syndrome in son and low grade mosaic 45,X/46,XX in mother." Genet. Couns.. 1996;7(3):201-6. Abstract
Li M, Zackai EH, Niikawa N, Kaplan PB, Driscoll DA. "Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2." Am. J. Med. Genet.. 1996;65(2):101-3. Abstract
1997
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
1998
Kasuya H, Shimizu T, Nakamura S, Takakura K. "Kabuki make-up syndrome and report of a case with hydrocephalus." Childs Nerv Syst. 1998;14(6):230-5. 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
1999
Makita Y, Yamada K, Miyamoto A, Okuno A, Niikawa N. "Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41." Am. J. Med. Genet.. 1999;86(3):285-8. Abstract
2000
Donadio A, Garavelli L, Banchini G, Neri G. "Kabuki syndrome and diaphragmatic defects: a frequent association in non-Asian patients?" Am. J. Med. Genet.. 2000;91(2):164-5.
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
van Haelst MM, Brooks AS, Hoogeboom J, et al. "Unexpected life-threatening complications in Kabuki syndrome." Am. J. Med. Genet.. 2000;94(2):170-3. Abstract
2002
Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ. "Kabuki syndrome: a review study of three hundred patients." Clin. Dysmorphol.. 2002;11(2):95-102. Abstract
Kurosawa K, Kawame H, Ochiai Y, Nakashima M, Tohma T, Ohashi H. "Patellar dislocation in Kabuki syndrome." Am. J. Med. Genet.. 2002;108(2):160-3. Abstract
2003
Sakurai H, Nozaki M, Takeuchi M, Soejima K, Kajimoto M, Hori S. "Periorbital correction in Kabuki syndrome." Plast. Reconstr. Surg.. 2003;111(4):1461-4.
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
2004
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
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
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.