Publications

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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.
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
Hughes HE, Davies SJ. "Coarctation of the aorta in Kabuki syndrome." Arch. Dis. Child.. 1994;70(6):512-4. Abstract
1995
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
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
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
Yano S, Matsuishi T, Yoshino M, Kato H, Kojima K. "Cerebellar and brainstem "atrophy" in a patient with Kabuki make-up syndrome." Am. J. Med. Genet.. 1997;71(4):486-7.
2001
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
McGaughran JM, Aftimos S, Jefferies C, Winship I. "Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand." Clin. Dysmorphol.. 2001;10(4):257-62. Abstract
2002
Mihçi E, Taçoy S, Haspolat S, Karaali K. "Central nervous system abnormalities in Kabuki (Niikawa-Kuroki) syndrome." Am. J. Med. Genet.. 2002;111(4):448-9.
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
Ming JE, Russell KL, Bason L, McDonald-McGinn DM, Zackai EH. "Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association." Am. J. Med. Genet. A. 2003;123A(3):249-52. Abstract
2004
Kashiwagi Y, Numabe H, Kawashima H, et al. "A case report of Kabuki make-up syndrome with cytomegalovirus infection." J. Infect.. 2004;48(3):278-82. Abstract
Elliott AM, Reed MH, Evans JA, Cross HG, Chudley AE. "Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome." Clin. Dysmorphol.. 2004;13(3):143-50. Abstract
David G, Sillence D, Hardwick R, Opitz JM. "A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome." Am. J. Med. Genet. A. 2004;130A(4):389-92. Abstract
2005
Anandan M, Porter NJ, Nemeth AH, Blair E, Downes SM. "Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome)." Ophthalmic Genet.. 2005;26(4):181-3. Abstract
Shah M, Bogucki B, Mavers M, deMello DE, Knutsen A. "Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report." BMC Med. Genet.. 2005;6:28. Abstract
Vaccaro M, Salpietro DC, Briuglia S, Merlino MV, Guarneri F, Dallapiccola B. "Cutis laxa in Kabuki make-up syndrome." J. Am. Acad. Dermatol.. 2005;53(5 Suppl 1):S247-51. Abstract
Kittayalaksakun S, Suttipong W, Srivuthana S. "Children with clinical central diabetes insipidus at King Chulalongkorn Memorial Hospital." J Med Assoc Thai. 2005;88 Suppl 4:S17-22. Abstract
2006
Zimmermann T, Brasch F, Rauch A, Stachel D, Holter W, Beck JD. "CR10/80--Lymphoid interstitial pneumonia and Kabuki-Syndrome in a young man." Paediatr Respir Rev. 2006;7 Suppl 1:S329.
Canham NLE. "Cutis aplasia as a feature of Kabuki syndrome." Clin. Dysmorphol.. 2006;15(3):179-80. Abstract
Iida T, Park S, Kato K, Kitano I. "Cleft palate in Kabuki syndrome: a report of six cases." Cleft Palate Craniofac. J.. 2006;43(6):756-61. Abstract
Suskind DL, Finn L, Wahbeh G, Christie D, Horslen S. "A child with Kabuki syndrome and primary sclerosing cholangitis successfully treated with ursodiol and cholestryamine." J. Pediatr. Gastroenterol. Nutr.. 2006;43(4):542-4.
2007
Ito H, Mori K, Inoue N, Kagami S. "A case of Kabuki syndrome presenting West syndrome." Brain Dev.. 2007;29(6):380-2. Abstract