Publications

Sort by: Author Title [ Type (Asc)] Year
Journal Article
Lo IF, Cheung LY, Ng AY, Lam ST. "Interstitial Dup(1p) with findings of Kabuki make-up syndrome." Am. J. Med. Genet.. 1998;78(1):55-7. Abstract
Nakamura M, Mizuno S, Kumagai T. "[Intervention to reduce the difficulty in kanji copying related to the visuo-spatial dysfunction in patients with Williams syndrome]." No To Hattatsu. 2010;42(5):353-8. Abstract
Kumar JM, Gowrishankar K, Vasanthi T, Kumar AR, Jayasudha T. "Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association." Indian J Hum Genet. 2011;17(3):241-3. Abstract
Ma KH, Chow SN, Yau FT. "Isolated adrenocorticotropin deficiency in a child with Kabuki syndrome." J. Pediatr. Endocrinol. Metab.. 2005;18(6):607-9. Abstract
Yoshioka S, Takano T, Matsuwake K, Sokoda T, Takeuchi Y. "A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia." Brain Dev.. 2010. Abstract
Emmert-Buck LT, Preslan MW, Kathuria SS. "Jaw-winking ptosis in a patient with Kabuki syndrome." J Pediatr Ophthalmol Strabismus. 2004;41(6):369-72. Abstract
Wellesley DG, Slaney S. "Kabuki make-up and Turner syndromes in the same patient." Clin. Dysmorphol.. 1994;3(4):297-300. Abstract
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
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
Devriendt K, Fryns J-P. "The Kabuki make-up (Niikawa-Kuroki) syndrome and isolated transient hyperphosphatasemia." Clin. Genet.. 1994;45(6):330-1.
Carcione A, Piro E, Albano S, et al. "Kabuki make-up (Niikawa-Kuroki) syndrome: clinical and radiological observations in two Sicilian children." Pediatr Radiol. 1991;21(6):428-31. Abstract
Ho HH, Eaves LC. "Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features." Dev Med Child Neurol. 1997;39(7):487-90. Abstract
dos Santos BM, Ribeiro RR, Stuani AS, de Paula e Silva FWG, de Queiroz AM. "Kabuki make-up (Niikawa-Kuroki) syndrome: dental and craniofacial findings in a Brazilian child." Braz Dent J. 2006;17(3):249-54. Abstract
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.
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
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
Kulkarni ML, Shetty SK, Chandrasekar VK, Kulkarni PM. "Kabuki make-up syndrome." Indian J Pediatr. 2004;71(9):857-9. Abstract
Kulkarni ML. "Kabuki makeup syndrome." Indian Pediatr. 2003;40(7):680.
de Souza JC, Ribeiro TC, Ribeiro RC. "[Kabuki make-up syndrome]." J Pediatr (Rio J). 1996;72(5):341-4. Abstract
Miyoshi O, Niikawa N. "[Kabuki make-up syndrome]." Ryoikibetsu Shokogun Shirizu. 1996;(15):317-9.
Valdez-Geraldo CM, García-Arias S, Valdez-Geraldo BM, García-Torres O. "[Kabuki make-up syndrome. A case report with cognitive failure and haematologic features]." Rev Neurol. 2009;48(5):278-9.
Sattur A, Deshmukh PK, Abrahim L, Naikmasur VG. "Kabuki Make-up Syndrome - A Case Report with Electromyographic study." J Clin Diagn Res. 2014;8(11):ZD03-6. Abstract
Pascual-Castroviejo I, Pascual-Pascual SI, Velázquez-Fragua R, Palencia R. "[Kabuki make-up syndrome. A report of 18 Spanish cases]." Rev Neurol. 2005;40(8):473-8. Abstract
Matsumoto N, Niikawa N. "Kabuki make-up syndrome: a review." American journal of medical genetics. Part C, Seminars in medical genetics. 2003;117C(1):57-65. Abstract
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