Publications

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A
Hoffman JD, Zhang Y, Greshock J, et al. "Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome." J. Med. Genet.. 2005;42(1):49-53. Abstract
Cuscó I, del Campo M, Vilardell M, et al. "Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration." BMC Med. Genet.. 2008;9:27. Abstract
Geneviève D, Amiel J, Viot G, et al. "Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature." Am. J. Med. Genet. A. 2004;129A(1):64-8. Abstract
Kokitsu-Nakata NM, Guion-Almeida ML. "Aural atresia and microtia in Kabuki syndrome." Am. J. Med. Genet. A. 2003;118A(4):391-3.
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
Halal F, Gledhill R, Dudkiewicz A. "Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome." Am. J. Med. Genet.. 1989;33(3):376-81. Abstract
B
Selicorni A, Colombo C, Bonato S, Milani D, Giunta AM, Bedeschi MF. "Biliary atresia and Kabuki syndrome: another case with long-term follow-up." Am. J. Med. Genet.. 2001;100(3):251.
Penders B, Schott N, Gerver W-JM, Stumpel CTRM. "Body proportions in children with Kabuki syndrome." Am. J. Med. Genet. A. 2016;170(3):610-4. Abstract
C
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
Tawa R, Kaino Y, Ito T, Goto Y, Kida K, Matsuda H. "A case of Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction." Acta Paediatr Jpn. 1994;36(4):412-5. 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
Taranu M, Giralt CM, Padilla CV, et al. "Case report of an adolescent girl with Kabuki syndrome and kyphoscoliosis, resistant at the conservative orthopedic treatment." Scoliosis. 2012;7 Suppl 1:P4.
Gidwani P, Segal E, Shanske A, Driscoll C. "Chorea associated with antiphospholipid antibodies in a patient with Kabuki syndrome." Am. J. Med. Genet. A. 2007;143A(12):1338-41. 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
Courcet J-B, Faivre L, Michot C, et al. "Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome." J. Pediatr.. 2013. Abstract
Gürbüz F, Özalp Yüreğir Ö, Ceylaner S, Topaloğlu AK, Yüksel B. "Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis." J Clin Res Pediatr Endocrinol. 2016;8(1):105-6.
Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. "Congenital heart defects in Kabuki syndrome." Am. J. Med. Genet.. 2001;100(4):269-74. Abstract
Tuna EB, Marşan G, Gençay K, Seymen F. "Craniofacial and dental characteristics of Kabuki syndrome: nine years cephalometric follow-up." J Clin Pediatr Dent. 2012;36(4):393-400. Abstract
Vaccaro M, Salpietro DC, Briuglia S, Merlino MV, Guarneri F, Dallapiccola B. "Cutis laxa in Kabuki make-up syndrome." J. Am. Acad. Dermatol.. 2005;53(5 Suppl 1):S247-51. Abstract
D
Yang P, Tan H, Xia Y, et al. "De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review." Am. J. Med. Genet. A. 2016;170(6):1613-21. Abstract
Hinrichs B, Gramss B, Meinecke P. "Defective clavicles in Kabuki syndrome." Genet. Couns.. 2002;13(4):477-9.
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
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
Giudici V, Kanani M, Muthialu N, et al. "Duplicated left pulmonary artery: an unknown disease? Three case reports and review of the literature." Cardiol Young. 2015:1-7. Abstract
E
Stagi S, Gulino AV, Lapi E, Rigante D. "Epigenetic control of the immune system: a lesson from Kabuki syndrome." Immunol. Res.. 2016;64(2):345-59. Abstract