Publications

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2011
Abdel-Salam GMH, Afifi HH, Eid MM, El-Badry TH, Kholoussi N. "Ectodermal abnormalities in patients with kabuki syndrome." Pediatr Dermatol. 2011;28(5):507-11. Abstract
Verrotti A, Agostinelli S, Cirillo C, et al. "Long-term outcome of epilepsy in Kabuki syndrome." Seizure. 2011;20(8):650-4. Abstract
Li Y, Bögershausen N, Alanay Y, et al. "A mutation screen in patients with Kabuki syndrome." Human genetics. 2011. Abstract
Casanova M, Selicorni A, Ferrari A. "Cancer predisposition in children with Kabuki syndrome." Am. J. Med. Genet. A. 2011;155A(6):1504.
Hannibal MC, Buckingham KJ, Ng SB, et al. "Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome." Am. J. Med. Genet. A. 2011;155A(7):1511-6. Abstract
Sánchez-Carpintero R, Herranz A, Reynoso C, Zubieta JL. "Dilated vein of Galen in Kabuki syndrome." Brain & development. 2011. 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
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
Cuesta L, Betlloch I, Toledo F, Latorre N, Monteagudo AF. "Kabuki syndrome: a new case associated with Becker nevus." Dermatol. Online J.. 2011;17(8):1. Abstract
Lindfield D, Griffiths MFP, Thompson DA, Moore AT. "Macular dystrophy in kabuki syndrome: a new clinical feature?" J Pediatr Ophthalmol Strabismus. 2011;48:e40-2. Abstract
Micale L, Augello B, Fusco C, et al. "Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients." Orphanet J Rare Dis. 2011;6:38. Abstract
2010
Teixeira VC, Neves MA, de Castro RA. "Latex allergy in a patient with Kabuki syndrome. Case report." Rev Bras Anestesiol. 2010;60(5):544-50. 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
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