Publications

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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
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
Crane B, Alpert PT, Cyrkiel D, Jauregui A. "Kabuki syndrome: a challenge for the primary care provider." J Am Assoc Nurse Pract. 2013;25(10):522-6. Abstract
Courtens W, Rassart A, Stene JJ, Vamos E. "Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome." Am. J. Med. Genet.. 2000;93(3):244-9. Abstract
Courcet J-B, Faivre L, Michot C, et al. "Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome." J. Pediatr.. 2013. Abstract
Cools F, Jaeken J. "Hardikar syndrome: a new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis." Am. J. Med. Genet.. 1997;71(4):472-4. Abstract
Cogulu D, Oncag O, Celen E, Ozkinay F. "Kabuki Syndrome with additional dental findings: a case report." J Dent Child (Chic). 2008;75(2):185-7. Abstract
Ciprero KL, Clayton-Smith J, Donnai D, Zimmerman RA, Zackai EH, Ming JE. "Symptomatic Chiari I malformation in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):273-5. Abstract
Chuah JL, Chuah JK, Brown R. "New fundus findings in a case of Kabuki syndrome." Eye (Lond). 2009;23(6):1483-5.
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
Chrzanowska KH, Krajewska-Walasek M, Kuś J, et al. "Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency." Clin. Genet.. 1998;53(4):308-12. Abstract
Cheon C-K, Ko JM. "Kabuki syndrome: clinical and molecular characteristics." Korean J Pediatr. 2015;58(9):317-24. Abstract
Chen C-P, Lin S-P, Tsai F-J, Chern S-R, Wang W. "Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation." Fertil. Steril.. 2008;89(6):1826.e5-7. Abstract
Chen Y-H, Sun M-H, Hsia S-H, Lai C-C, Wu W-C. "Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)." BMC Ophthalmol. 2014;14:143. Abstract
Chaudhry IA, Shamsi FA, Alkuraya HS, Al-Sharif A. "Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia." Int Ophthalmol. 2008;28(2):131-4. Abstract
Cetinkaya E, Misirlioğlu ED, Vidinlisan S, Baydar Z, Ozhan ZR. "Hypospadias in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome." J. Pediatr. Endocrinol. Metab.. 2001;14(6):803-5. Abstract
Casanova M, Selicorni A, Ferrari A. "Cancer predisposition in children with Kabuki syndrome." Am. J. Med. Genet. A. 2011;155A(6):1504.
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.
Carcione A, Piro E, Albano S, et al. "Kabuki make-up (Niikawa-Kuroki) syndrome: clinical and radiological observations in two Sicilian children." Pediatr Radiol. 1991;21(6):428-31. 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
Canham NLE. "Cutis aplasia as a feature of Kabuki syndrome." Clin. Dysmorphol.. 2006;15(3):179-80. Abstract
Camera G, Pozzolo S, Carta M, Righi E. "Peters'-Plus syndrome: report on an unusual case." Pathologica. 1994;86(6):673-5. Abstract
Calvo Campoverde K, Gean E, Piquer Gibert M, et al. "Humoral deficiency in three paediatric patients with genetic diseases." Allergol Immunopathol (Madr). 2016;44(3):257-62. Abstract