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
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.
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
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
PeBenito R, Ferretti C. "Kabuki makeup syndrome (Niikawa-Kuroki syndrome) in a black child." Ann Ophthalmol. 1989;21(8):312-5. 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.
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.
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
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
Devriendt K, Fryns J-P. "The Kabuki make-up (Niikawa-Kuroki) syndrome and isolated transient hyperphosphatasemia." Clin. Genet.. 1994;45(6):330-1.
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.
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
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
Devriendt K, Van den Berghe H, Fryns J-P, Van Reempst P. "Large congenital follicular ovarian cyst in a girl with Kabuki syndrome." Am. J. Med. Genet.. 1996;65(1):90-91.
1997
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
Chu DC, Finley SC, Young DW, Proud VK. "CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: report and review." Am. J. Med. Genet.. 1997;72(2):205-9. Abstract
1998
Fryns J-P, Devriendt K. "Hypoplastic claviculae in the Kabuki (Niikawa-Kuroki) syndrome." Genet. Couns.. 1998;9(1):57-8.
1999
Silva EO, Freitas EM, Costa SM, Duarte AR. "[Down syndrome associated with clinical manifestations of Kabuki syndrome: report of a case]." J Pediatr (Rio J). 1999;75(5):367-9. Abstract
2001
Frediani T, Lucarelli S, Bruni L. "Niikawa-Kuroki (Kabuki) syndrome in two siblings." Minerva Pediatr.. 2001;53(1):43-8. 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.
2003
Fujishiro M, Ogihara T, Tsukuda K, et al. "A case showing an association between type 1 diabetes mellitus and Kabuki syndrome." Diabetes Res. Clin. Pract.. 2003;60(1):25-31. Abstract
Scherer S, Theile U, Beyer V, Ferrari R, Kreck C, Rister M. "Patient with Kabuki syndrome and acute leukemia." Am. J. Med. Genet. A. 2003;122A(1):76-9. Abstract
2004
Casado AI, Ruiz J, Oro J, Martínez C, Fernández I, Oliva P. "Anaesthetic management in a case of Kabuki syndrome." Eur J Anaesthesiol. 2004;21(2):162-3.
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.
White SM, Thompson EM, Kidd A, et al. "Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome." Am. J. Med. Genet. A. 2004;127A(2):118-27. Abstract