Publications

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2016
Lindsley AW, Saal HM, Burrow TA, et al. "Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome." J. Allergy Clin. Immunol.. 2016;137(1):179-87.e10. Abstract
2015
Moosmann J, Uebe S, Dittrich S, Rüffer A, Ekici AB, Toka O. "Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases." PLoS ONE. 2015;10(5):e0126873. Abstract
2014
Cappuccio G, Rossi A, Fontana P, et al. "Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene." BMC Med. Genet.. 2014;15:15. Abstract
2012
Lederer D, Grisart B, Digilio MC, et al. "Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome." Am. J. Hum. Genet.. 2012;90(1):119-24. Abstract
Kokitsu-Nakata NM, Petrin AL, Heard JP, et al. "Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome." Am. J. Med. Genet. A. 2012;158A(8):2003-8. Abstract
2011
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
2010
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
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
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
2009
Pottinger CC, Stiff RE, Holroyd JM, Davies SJ. "Further evidence of dominant inheritance of Kabuki syndrome." Clin. Dysmorphol.. 2009;18(4):215-7.