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
Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I. "A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation." J. Pediatr.. 1981;99(4):570-3. 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
Koutras A, Fisher S. "Niikawa-Kuroki syndrome: a new malformation syndrome of postnatal dwarfism, mental retardation, unusual face, and protruding ears." J. Pediatr.. 1982;101(3):417-9.
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.
1986
Kaiser-Kupfer MI, Mulvihill JJ, Klein KL, Parry DM, Schlesinger SL. "The Niikawa-Kuroki (Kabuki make-up) syndrome in an American black." Am. J. Ophthalmol.. 1986;102(5):667-8.
1987
Iwama Y, Sugiyama S, Kaiga K, Eguchi M, Furukawa T. "Kabuki Makeup Syndrome Associated With Megaureter." Pediatrics International. 1987;29(1):182-185.
1988
Aoyagi S, Kumade M, Tanaka K, Aso K, Kosuga K, Ohishi K. "[A case report of Kabuki make-up syndrome with partial anomalous pulmonary venous return and ASD]." Rinsho Kyobu Geka. 1988;8(4):415-7.
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
1989
Mulvihill JJ, Kaiser-Kupfer MI. "Niikawa-Kuroki (Kabuki make-up) syndrome." Am. J. Med. Genet.. 1989;33(3):425.
1990
Kuandykov EU, Il'ina EG. "[The Kabuki syndrome]." Pediatriia. 1990;(1):105-7.
Gillis R, Klar A, Gross-Kieselstein E. "The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child." Clin. Genet.. 1990;38(5):378-81. 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
1993
Ikegawa S, Sakaguchi R, Kimizuka M, Yanagisako Y, Tokimura F. "Recurrent dislocation of the patella in Kabuki make-up syndrome." J Pediatr Orthop. 1993;13(2):265-7. Abstract
1994
Tawa R, Kaino Y, Ito T, Goto Y, Kida K, Matsuda H. "A case of Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction." Acta Paediatr Jpn. 1994;36(4):412-5. Abstract
Schrander-Stumpel CTRM, Meinecke P, Wilson GN, et al. "The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients." Eur. J. Pediatr.. 1994;153(6):438-45. 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
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
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
Ijichi O, Kawakami K, Matsuda Y, et al. "A case of Kabuki make-up syndrome with EBV+Burkitt's lymphoma." Acta Paediatr Jpn. 1996;38(1):66-8. Abstract
Kobayashi O, Sakuragawa N. "Inheritance in Kabuki make-up (Niikawa-Kuroki) syndrome." Am. J. Med. Genet.. 1996;61(1):92-3.
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
Tsukahara M, Kuroki Y, Imaizumi K, Miyazawa Y, Matsuo K. "Dominant inheritance of Kabuki make-up syndrome." Am. J. Med. Genet.. 1997;73(1):19-23. Abstract