Publications

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Journal Article
Gidwani P, Segal E, Shanske A, Driscoll C. "Chorea associated with antiphospholipid antibodies in a patient with Kabuki syndrome." Am. J. Med. Genet. A. 2007;143A(12):1338-41. Abstract
Huh JK, Chung MS, Baek GH, Oh JH, Lee YH, Gong HS. "Cleft hand in Kabuki make-up syndrome: case report." J Hand Surg Am. 2011;36(4):653-7. 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
Courcet J-B, Faivre L, Michot C, et al. "Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome." J. Pediatr.. 2013. Abstract
Andersen MS, Menazzi S, Brun P, Cocah C, Merla G, Solari A. "[Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases]." Arch Argent Pediatr. 2014;112(1):26-32. 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
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
Hughes HE, Davies SJ. "Coarctation of the aorta in Kabuki syndrome." Arch. Dis. Child.. 1994;70(6):512-4. Abstract
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
Vesseur A, Cillessen E, Mylanus E. "Cochlear Implantation in a Patient with Kabuki Syndrome." The Journal of International Advanced Otology. 2016;12(1):129-131.
Gürbüz F, Özalp Yüreğir Ö, Ceylaner S, Topaloğlu AK, Yüksel B. "Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis." J Clin Res Pediatr Endocrinol. 2016;8(1):105-6.
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
Tanaka R, Takenouchi T, Uchida K, et al. "Congenital corneal staphyloma as a complication of Kabuki syndrome." Am. J. Med. Genet. A. 2012;158A(8):2000-2. 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
Yuan S-M. "Congenital heart defects in Kabuki syndrome." Cardiol J. 2013;20(2):121-4. Abstract
Morcaldi G, Boccardo F, Campisi C, Bellini T, Massocco D, Bonioli E. "Congenital lymphatic dysplasia in Kabuki syndrome: first report of an unusual association." Lymphology. 2010;43(4):188-91. Abstract
Takano T, Matsuwake K, Yoshioka S, Takeuchi Y. "Congenital polymicrogyria including the perisylvian region in early childhood." Congenit Anom (Kyoto). 2010;50(1):64-7. 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
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.
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
Tuna EB, Marşan G, Gençay K, Seymen F. "Craniofacial and dental characteristics of Kabuki syndrome: nine years cephalometric follow-up." J Clin Pediatr Dent. 2012;36(4):393-400. Abstract
Sobral SP, Leite A, Figueiredo PT, et al. "Craniofacial and Dental Features in Kabuki Syndrome Patients." Cleft Palate Craniofac. J.. 2011. Abstract
Martínez-Lage JF, Felipe-Murcia M, Navarro EG, Almagro M-J, López-Guerrero AL, Pérez-Espejo MA. "Craniosynostosis in Kabuki syndrome." J Neurosurg Pediatr. 2010;6(2):198-201. Abstract
Canham NLE. "Cutis aplasia as a feature of Kabuki syndrome." Clin. Dysmorphol.. 2006;15(3):179-80. 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