Publications

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1993
Say B, McCutcheon L, Todd C, Hough JV. "Kabuki make-up syndrome and hearing impairment." Clin. Dysmorphol.. 1993;2(1):68-70. Abstract
Jardine PE, Burvill-Holmes LC, Schutt WH, Lunt PW. "Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome." Clin. Dysmorphol.. 1993;2(3):269-73. Abstract
Dennis NR, Collins AL, Crolla JA, Cockwell AE, Fisher AM, Jacobs PA. "Three patients with ring (X) chromosomes and a severe phenotype." J. Med. Genet.. 1993;30(6):482-6. 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
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
Camera G, Pozzolo S, Carta M, Righi E. "Peters'-Plus syndrome: report on an unusual case." Pathologica. 1994;86(6):673-5. 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
Wang LC, Chiu IS, Wang PJ, et al. "Kabuki make-up syndrome associated with congenital heart disease." Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1994;35(1):63-9. Abstract
Hughes HE, Davies SJ. "Coarctation of the aorta in Kabuki syndrome." Arch. Dis. Child.. 1994;70(6):512-4. Abstract
Devriendt K, Fryns J-P. "The Kabuki make-up (Niikawa-Kuroki) syndrome and isolated transient hyperphosphatasemia." Clin. Genet.. 1994;45(6):330-1.
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
Fryns J-P, Van den Berghe H, Schrander-Stumpel CTRM. "Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4." Am. J. Med. Genet.. 1994;53(2):204-5.
Wellesley DG, Slaney S. "Kabuki make-up and Turner syndromes in the same patient." Clin. Dysmorphol.. 1994;3(4):297-300. Abstract
1995
Devriendt K, Lemli L, Craen M, de Zegher F. "Growth hormone deficiency and premature thelarche in a female infant with kabuki makeup syndrome." Horm. Res.. 1995;43(6):303-6. Abstract
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
Stankovics J. "[Kabuki syndrome]." Orv Hetil. 1995;136(34):1841-3. Abstract
Burke LW, Jones MC. "Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients." Cleft Palate Craniofac. J.. 1995;32(1):77-84. Abstract
Lynch SA, Ashcroft KA, Zwolinski S, Clarke C, Burn J. "Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13." J. Med. Genet.. 1995;32(3):227-30. 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
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
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