Publications

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2010
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
Ladha S. "Insight into the genetic cause underlying Kabuki syndrome." Clin. Genet.. 2010. Abstract
Sanz JH, Lipkin P, Rosenbaum K, Mahone ME. "Developmental profile and trajectory of neuropsychological skills in a child with Kabuki syndrome: implications for assessment of syndromes associated with intellectual disability." Clin Neuropsychol. 2010;24(7):1181-92. Abstract
Digilio MC, Baban A, Marino B, Dallapiccola B. "Hypoplastic left heart syndrome in patients with Kabuki syndrome." Pediatr Cardiol. 2010;31(7):1111-3.
Yang X-jing, Zeng Y, Xiong F. "[Kabuki syndrome case report]." Zhonghua Er Ke Za Zhi. 2010;48(11):868-70.
Lodi M, Chifari R, Parazzini C, et al. "Seizures and EEG pattern in Kabuki syndrome." Brain Dev.. 2010;32(10):829-34. 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
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
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
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
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
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
Paulussen ADC, Stegmann APA, Blok MJ, et al. "MLL2 mutation spectrum in 45 patients with Kabuki syndrome." Hum. Mutat.. 2010. 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
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
Grunseich C, Fishbein TM, Berkowitz F, Shamim EA. "Tremor and deep brain nuclei hyperintensities in Kabuki syndrome." Pediatr. Neurol.. 2010;43(2):148-50. Abstract
Sharma P, Dave V. "Esotropia in kabuki syndrome." J Pediatr Ophthalmol Strabismus. 2010;47:e1-3. Abstract
2009
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
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.
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
Rosti RO, Kayserili H. "Kabuki make-up syndrome with unilateral renal agenesis." Turk. J. Pediatr.. 2009;51(3):298-300. Abstract