Publications

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1998
Petersen RB, Lindholm P, Bonde CT. "[Kabuki syndrome]." Ugeskr. Laeg.. 1998;172(18):1384-5. Abstract
2009
Kapoor RR, James C, Hussain K. "Hyperinsulinism in developmental syndromes." Endocr Dev. 2009;14:95-113. Abstract
Bayar Muluk N, Yalçinkaya F, Budak B, Gündüz S, Ayas K. "Evaluation for language and speech development in Kabuki make-up syndrome: a case report." Int. J. Pediatr. Otorhinolaryngol.. 2009;73(12):1837-40. Abstract
Rosti RO, Kayserili H. "Kabuki make-up syndrome with unilateral renal agenesis." Turk. J. Pediatr.. 2009;51(3):298-300. Abstract
Teixeira CS, Silva CRL, Honjo RS, Bertola DR, Albano LMJ, Kim CA. "Dental evaluation of Kabuki syndrome patients." Cleft Palate Craniofac. J.. 2009;46(6):668-73. Abstract
Al Mosawi AJ, Fewin L. "The first case of Niikawa-Kuroki syndrome in Kazakhstan associated with café au lait spots." G Ital Dermatol Venereol. 2009;144(5):613-5. Abstract
Pottinger CC, Stiff RE, Holroyd JM, Davies SJ. "Further evidence of dominant inheritance of Kabuki syndrome." Clin. Dysmorphol.. 2009;18(4):215-7.
Torii Y, Yagasaki H, Tanaka H, et al. "Successful treatment with rituximab of refractory idiopathic thrombocytopenic purpura in a patient with Kabuki syndrome." Int. J. Hematol.. 2009;90(2):174-6. Abstract
2010
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
Duval R, Hammamji K, Aroichane M, Michaud JL, Ospina LH. "Acquired myelinated nerve fibers in association with optic disk drusen." J AAPOS. 2010;14(6):544-7. 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
Kramer S, Seitz B, Käsmann-Kellner B. "[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy]." Ophthalmologe. 2010;107(2):182-5. Abstract
Kung GC, Chang PM, Sklansky MS, Randolph LM. "Hypoplastic left heart syndrome in patients with Kabuki syndrome." Pediatr Cardiol. 2010;31(1):138-41. Abstract
Wallerstein R, Sugalski RD. "A new case of MOMO syndrome." Clin. Dysmorphol.. 2010;19(1):1-4. Abstract
Tumino M, Licciardello M, Sorge G, et al. "Kabuki syndrome and cancer in two patients." Am. J. Med. Genet. A. 2010;152A(6):1536-9. 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
Santiago J, Muszlak M, Goulois E, et al. "[A case of Kabuki syndrome admitted for acute diarrhea and growth retardation in a French hospital in tropical area]." Arch Pediatr. 2010;17(5):588-93. Abstract
Ng SB, Bigham AW, Buckingham KJ, et al. "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome." Nat. Genet.. 2010;42(9):790-3. 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
Ho J, Fox D, Innes MA, et al. "Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia." J. Pediatr. Endocrinol. Metab.. 2010;23(9):975-9. Abstract
2011
Ezgu E, Eminoglu T, Okur I, et al. "An infantile case of Zellweger syndrome presented with Kabuki-like phenotype." Genet. Couns.. 2011;22(2):217-20. 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
Ku C-S, Naidoo N, Pawitan Y. "Revisiting Mendelian disorders through exome sequencing." Hum. Genet.. 2011;129(4):351-70. Abstract
Kim NG, Kim HJ, Hwang J-M. "Strabismus and poor stereoacuity associated with Kabuki syndrome." Korean J Ophthalmol. 2011;25(2):136-8. Abstract
Ionita-Laza I, Makarov V, Yoon S, et al. "Finding disease variants in Mendelian disorders by using sequence data: methods and applications." Am. J. Hum. Genet.. 2011;89(6):701-12. Abstract