Publications

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Journal Article
Priolo M, Micale L, Augello B, et al. "Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome." Mol. Genet. Metab.. 2012;107(3):627-9. Abstract
Fahim SS, Adam JE. "Acanthosis nigricans in Kabuki syndrome." J Cutan Med Surg. 2004;8(3):157-61. Abstract
Casado AI, Ruiz J, Oro J, Martínez C, Fernández I, Oliva P. "Anaesthetic management in a case of Kabuki syndrome." Eur J Anaesthesiol. 2004;21(2):162-3.
Barozzi S, Di Berardino F, Atzeri F, et al. "Audiological and vestibular findings in the Kabuki syndrome." Am. J. Med. Genet. A. 2009;149A(2):171-6. Abstract
Giordano P, Lassandro G, Sangerardi M, Faienza MF, Valente F, Martire B. "Autoimmune haematological disorders in two Italian children with Kabuki syndrome." Ital J Pediatr. 2014;40:10. Abstract
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
Maas NMC, Van de Putte T, Melotte C, et al. "The C20orf133 gene is disrupted in a patient with Kabuki syndrome." J. Med. Genet.. 2007;44(9):562-9. Abstract
Casanova M, Selicorni A, Ferrari A. "Cancer predisposition in children with Kabuki syndrome." Am. J. Med. Genet. A. 2011;155A(6):1504.
Fujishiro M, Ogihara T, Tsukuda K, et al. "A case showing an association between type 1 diabetes mellitus and Kabuki syndrome." Diabetes Res. Clin. Pract.. 2003;60(1):25-31. Abstract
Schulz Y, Freese L, Mänz J, et al. "CHARGE and Kabuki syndromes: A phenotypic and molecular link." Hum. Mol. Genet.. 2014. Abstract
Suskind DL, Finn L, Wahbeh G, Christie D, Horslen S. "A child with Kabuki syndrome and primary sclerosing cholangitis successfully treated with ursodiol and cholestryamine." J. Pediatr. Gastroenterol. Nutr.. 2006;43(4):542-4.
Courcet J-B, Faivre L, Michot C, et al. "Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome." J. Pediatr.. 2013. 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
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
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
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
Rocha CT, Peixoto ITA, Fernandes PM, Torres CP, de Queiroz AM. "Dental findings in Kabuki make-up syndrome: a case report." Spec Care Dentist. 2008;28(2):53-7. Abstract
Galán-Gómez E, Carbonell-Pérez JM, Cardesa-García JJ, et al. "A diagnostic conundrum: two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome?" Am. J. Med. Genet. A. 2004;125A(3):306-9. Abstract
Silva EO, Freitas EM, Costa SM, Duarte AR. "[Down syndrome associated with clinical manifestations of Kabuki syndrome: report of a case]." J Pediatr (Rio J). 1999;75(5):367-9. Abstract
Belengeanu V, Rozsnyai K, Farcaş S, Velea I, Fryns J-P. "Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?" Genet. Couns.. 2005;16(2):167-71. Abstract
Michot C, Corsini C, Sanlaville D, et al. "Finger creases lend a hand in Kabuki syndrome." Eur J Med Genet. 2013. 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
White SM, Thompson EM, Kidd A, et al. "Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome." Am. J. Med. Genet. A. 2004;127A(2):118-27. Abstract
Nydegger A, Van Dyck M, Fisher RA, Jaeken J, Hardikar W. "Hardikar syndrome: long term outcome of a rare genetic disorder." Am. J. Med. Genet. A. 2008;146A(19):2468-72. Abstract