Publications

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1985
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
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
1991
Schrander-Stumpel CTRM, Theunissen PM, Hulsmans RF, Fryns J-P. "Unknown. The combination of vitiligo vulgaris with somatic and psychomotor retardation, cleft palate and facial dysmorphism: a distinct entity?" Genet. Couns.. 1991;2(4):259-61.
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
1993
Schrander-Stumpel CTRM, Theunissen PM, Hulsmans RF, Fryns J-P. "Kabuki make-up (Niikawa-Kuroki) syndrome in a girl presenting with vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism." Genet. Couns.. 1993;4(1):71-2.
Say B, McCutcheon L, Todd C, Hough JV. "Kabuki make-up syndrome and hearing impairment." Clin. Dysmorphol.. 1993;2(1):68-70. Abstract
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
Franceschini P, Vardeu MP, Guala A, et al. "Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome." Am. J. Med. Genet.. 1993;47(3):423-5. 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
Tutar HE, Ocal G, Ince E, Cin S. "Premature thelarche in Kabuki make-up syndrome." Acta Paediatr Jpn. 1994;36(1):104-6. 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
1996
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
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
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
2000
Kluijt I, van Dorp DB, Kwee ML, et al. "Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features." Ophthalmic Genet.. 2000;21(1):51-61. 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
2001
Stankiewicz P, Thiele H, Giannakudis I, et al. "Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression." Am. J. Med. Genet.. 2001;102(3):286-92. Abstract
Okada Y, Ono S, Tomomasa T, Inoue Y, Morikawa A. "Balloon angioplasty in a patient with Kabuki make-up syndrome." Pediatr Int. 2001;43(6):694-6.
Bereket A, Turan S, Alper G, Comu S, Alpay H, Akalin F. "Two patients with Kabuki syndrome presenting with endocrine problems." J. Pediatr. Endocrinol. Metab.. 2001;14(2):215-20. 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
Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. "Congenital heart defects in Kabuki syndrome." Am. J. Med. Genet.. 2001;100(4):269-74. Abstract
Fong CT, Wang M, Young EC, et al. "Microtia associated with the Kabuki (Niikawa-Kuroki) syndrome." Otolaryngol Head Neck Surg. 2001;125(5):557-8.
2002
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