Publications

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Journal Article
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
Adam MP, Hudgins L. "Kabuki syndrome: a review." Clin. Genet.. 2005;67(3):209-19. Abstract
Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ. "Kabuki syndrome: a review study of three hundred patients." Clin. Dysmorphol.. 2002;11(2):95-102. Abstract
Siminas S, Baillie CT, Turnock R. "Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment." European J Pediatr Surg Rep. 2015;3(1):54-8. 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
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
Sethi SK, Faridi MMA. "Kabuki syndrome and diaphragmatic defect." Indian Pediatr. 2006;43(6):552-3.
Donadio A, Garavelli L, Banchini G, Neri G. "Kabuki syndrome and diaphragmatic defects: a frequent association in non-Asian patients?" Am. J. Med. Genet.. 2000;91(2):164-5.
Gabrielli O, Bruni S, Bruschi B, Carloni I, Coppa GV. "Kabuki syndrome and growth hormone deficiency: description of a case treated by long-term hormone replacement." Clin. Dysmorphol.. 2002;11(1):71-2.
Roy D, Das T, Ahmed A, Rudra A, Mitra D. "Kabuki syndrome and its anaesthetic management." Indian J Anaesth. 2011;55(4):431-3.
Isidor B, Rio M, Mourier O, Habes D, Amiel J, Jacquemin E. "Kabuki syndrome and neonatal cholestasis: report of a new case and review of the literature." J. Pediatr. Gastroenterol. Nutr.. 2007;45(2):261-4.
Topcu Y, Bayram E, Karaoglu P, Yis U, Kurul SHız. "Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl." J Pediatr Neurosci. 2013;8(3):259-60.
Bianca S, Barrano B, Cataliotti A, Indaco L, Ingegnosi C, Ettore G. "Kabuki syndrome and sex chromosomal anomalies: is it really an association?" Fertil. Steril.. 2009;91(5):e6.
Utine GE, Alanay Y, Atkaş D, Boduroğlu K, Alikaşifoğlu M, Tunçbilek E. "Kabuki syndrome and trisomy 10p." Genet. Couns.. 2008;19(3):291-300. Abstract
Long A, Sinkovskaya ES, Edmondson AC, Zackai E, Schrier Vergano SA. "Kabuki syndrome as a cause of non-immune fetal hydrops/ascites." American Journal of Medical Genetics Part A. 2016;170(12):3333-3337.
Yang X-jing, Zeng Y, Xiong F. "[Kabuki syndrome case report]." Zhonghua Er Ke Za Zhi. 2010;48(11):868-70.
Cheon C-K, Ko JM. "Kabuki syndrome: clinical and molecular characteristics." Korean J Pediatr. 2015;58(9):317-24. Abstract
Dentici ML, Di Pede A, Lepri FR, et al. "Kabuki syndrome: clinical and molecular diagnosis in the first year of life." Arch. Dis. Child.. 2015;100(2):158-64. Abstract
Schrander-Stumpel CTRM, Spruyt L, Curfs LMG, Defloor T, Schrander JJP. "Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management." Am. J. Med. Genet. A. 2005;132A(3):234-43. Abstract
Ioan DM, Fryns J-P. "Kabuki syndrome: description of a 2-year old Roumanian boy and review of the literature." Genet. Couns.. 2007;18(1):113-7. Abstract
Mhanni AA, Cross HG, Chudley AE. "Kabuki syndrome: description of dental findings in 8 patients." Clin. Genet.. 1999;56(2):154-7. Abstract
Kasdon BD, Fox JE. "Kabuki syndrome: diagnostic and treatment considerations." Ment Health Fam Med. 2012;9(3):171-9. Abstract
McVeigh TP, Banka S, Reardon W. "Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia." Clin. Dysmorphol.. 2015;24(4):135-9. Abstract
Petzold D, Kratzsch E, Opitz C, Tinschert S. "The Kabuki syndrome: four patients with oral abnormalities." Eur J Orthod. 2003;25(1):13-9. Abstract
Van Laarhoven PM, Neitzel LR, Quintana AM, et al. "Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart, and brain development." Hum. Mol. Genet.. 2015. Abstract