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
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
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.
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
1989
Mulvihill JJ, Kaiser-Kupfer MI. "Niikawa-Kuroki (Kabuki make-up) syndrome." Am. J. Med. Genet.. 1989;33(3):425.
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
Philip N, Meinecke P, David A, et al. "Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases." Clin. Dysmorphol.. 1992;1(2):63-77. 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
1993
Say B, McCutcheon L, Todd C, Hough JV. "Kabuki make-up syndrome and hearing impairment." Clin. Dysmorphol.. 1993;2(1):68-70. 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
Watanabe T, Miyakawa M, Satoh M, Abe T, Oda Y. "Kabuki make-up syndrome associated with chronic idiopathic thrombocytopenic purpura." Acta Paediatr Jpn. 1994;36(6):727-9. 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
Lan K, Michiwaki Y, Sunaga S, Michi K. "Congenital velopharyngeal incompetence in Kabuki make-up syndrome." Int J Oral Maxillofac Surg. 1995;24(4):298-300. Abstract
Galán-Gómez E, Cardesa-García JJ, Campo-Sampedro FM, Salamanca-Maesso C, Martínez-Frías ML, Frías JL. "Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children." Am. J. Med. Genet.. 1995;59(3):276-82. 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
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
1997
Toutain A, Plée Y, Ployet MJ, et al. "Deafness and Mondini dysplasia in Kabuki (Niikawa-Kuroki) syndrome. Report of a case and review of the literature." Genet. Couns.. 1997;8(2):99-105. Abstract
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
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
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
Yano S, Matsuishi T, Yoshino M, Kato H, Kojima K. "Cerebellar and brainstem "atrophy" in a patient with Kabuki make-up syndrome." Am. J. Med. Genet.. 1997;71(4):486-7.
1998
Chrzanowska KH, Krajewska-Walasek M, Kuś J, et al. "Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency." Clin. Genet.. 1998;53(4):308-12. Abstract
Ewart-Toland A, Enns GM, Cox VA, Mohan GC, Rosenthal P, Golabi M. "Severe congenital anomalies requiring transplantation in children with Kabuki syndrome." Am. J. Med. Genet.. 1998;80(4):362-7. Abstract