Publications

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1998
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
Wilson GN. "Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management." Am. J. Med. Genet.. 1998;79(2):112-20. Abstract
Petersen RB, Lindholm P, Bonde CT. "[Kabuki syndrome]." Ugeskr. Laeg.. 1998;172(18):1384-5. Abstract
1999
Kawame H, Hannibal MC, Hudgins L, Pagon RA. "Phenotypic spectrum and management issues in Kabuki syndrome." J. Pediatr.. 1999;134(4):480-5. Abstract
Di Gennaro G, Condoluci C, Casali C, Ciccarelli O, Albertini G. "Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome." Pediatr. Neurol.. 1999;21(2):566-8. Abstract
Mhanni AA, Chudley AE. "Genetic landmarks through philately--Kabuki theater and Kabuki syndrome." Clin. Genet.. 1999;56(2):116-7.
Mhanni AA, Cross HG, Chudley AE. "Kabuki syndrome: description of dental findings in 8 patients." Clin. Genet.. 1999;56(2):154-7. Abstract
Roccella M. "Niikawa-Kuroki syndrome." Minerva Pediatr.. 1999;51(7-8):271-8. Abstract
Makita Y, Yamada K, Miyamoto A, Okuno A, Niikawa N. "Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41." Am. J. Med. Genet.. 1999;86(3):285-8. Abstract
Kokitsu-Nakata NM, Vendramini S, Guion-Almeida ML. "Lower lip pits and anorectal anomalies in Kabuki syndrome." Am. J. Med. Genet.. 1999;86(3):282-4. Abstract
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
2000
Gabrielli O, Carloni I, Coppa GV, Bedeschi MF, Petroncini MM, Selicorni A. "Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency." Minerva Pediatr.. 2000;52(1-2):47-53. Abstract
Gabrielli O, Carloni I, Coppa GV, Bedeschi MF, Petroncini MM, Selicorni A. "Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency." Minerva Pediatr.. 2000;52(1-2):47-53. Abstract
Courtens W, Rassart A, Stene JJ, Vamos E. "Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome." Am. J. Med. Genet.. 2000;93(3):244-9. Abstract
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
McGaughran JM, Donnai D, Clayton-Smith J. "Biliary atresia in Kabuki syndrome." Am. J. Med. Genet.. 2000;91(2):157-8.
Donadio A, Garavelli L, Banchini G, Neri G. "Kabuki syndrome and diaphragmatic defects: a frequent association in non-Asian patients?" Am. J. Med. Genet.. 2000;91(2):164-5.
Igawa HH, Nishizawa N, Sugihara T, Inuyama Y. "Inner ear abnormalities in Kabuki make-up syndrome: report of three cases." Am. J. Med. Genet.. 2000;92(2):87-9. Abstract
Van Lierde KM, Van Borsel J, Van Cauwenberge P. "Speech patterns in Kabuki make-up syndrome: a case report." J Commun Disord. 2000;33(6):447-61; quiz 461-2. 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
Kobayashi ET, Maruyama Y, Kobayashi K. "A longitudinal evaluation of craniofacial growth in a patient with Kabuki make-up syndrome: a case report." Eur J Orthod. 2001;23(2):205-13. Abstract
Milunsky JM, Cheney SM. "Kabuki syndrome in a Haitian patient." Am. J. Med. Genet.. 2001;100(2):172-4.
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.
Frediani T, Lucarelli S, Bruni L. "Niikawa-Kuroki (Kabuki) syndrome in two siblings." Minerva Pediatr.. 2001;53(1):43-8. Abstract