Publications

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Dyamenahalli U, Abraham B, Fontenot E, Prasad V, Imamura M. "Pathologic aneurysmal dilation of the ascending aorta and dilation of the main pulmonary artery in patients with Kabuki syndrome: valve-sparing aortic root replacement." Congenital heart disease. 2007;2(6):424-8. 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
Dotta F, Vendrame F. "Neonatal syndromes of polyendocrinopathy." Endocrinol. Metab. Clin. North Am.. 2002;31(2):283-93, v. Abstract
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.
Dodé C, Weil D, Levilliers J, et al. "Sequence characterization of a newly identified human alpha-tubulin gene (TUBA2)." Genomics. 1998;47(1):125-30. Abstract
Digilio MC, Marino B. "What Is New in Genetics of Congenital Heart Defects?" Frontiers in Pediatrics. 2016;4952140A825658359945621359321121513093155A167A958171004290642879352219638418918158A33104424142481478096159323578138(381).
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
Digilio MC, Baban A, Marino B, Dallapiccola B. "Hypoplastic left heart syndrome in patients with Kabuki syndrome." Pediatr Cardiol. 2010;31(7):1111-3.
Diaconescu S, Miron I, Gimiga N, et al. "Unusual Endoscopic Findings in Children: Esophageal and Gastric Polyps: Three Cases Report." Medicine (Baltimore). 2016;95(3):e2539. Abstract
Di Gennaro G, Condoluci C, Casali C, Ciccarelli O, Albertini G. "Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome." Pediatr. Neurol.. 1999;21(2):566-8. Abstract
Di Gennaro G, Sebastiano F, Quarato PP, Albertini G, Majolini L, Onorati P. "Temporo-occipital spikes: are they so typical for Kabuki syndrome?" Pediatr. Neurol.. 2004;31(5):379; author reply 379-80.
Dhar SS, Lee S-H, Kan P-Y, et al. "Trans-tail regulation of MLL4-catalyzed H3K4 methylation by H4R3 symmetric dimethylation is mediated by a tandem PHD of MLL4." Genes Dev.. 2012;26(24):2749-62. Abstract
Devriendt K, Fryns J-P. "The Kabuki make-up (Niikawa-Kuroki) syndrome and isolated transient hyperphosphatasemia." Clin. Genet.. 1994;45(6):330-1.
Devriendt K, Lemli L, Craen M, de Zegher F. "Growth hormone deficiency and premature thelarche in a female infant with kabuki makeup syndrome." Horm. Res.. 1995;43(6):303-6. Abstract
Devriendt K, Van den Berghe H, Fryns J-P, Van Reempst P. "Large congenital follicular ovarian cyst in a girl with Kabuki syndrome." Am. J. Med. Genet.. 1996;65(1):90-91.
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
Dennis NR, Collins AL, Crolla JA, Cockwell AE, Fisher AM, Jacobs PA. "Three patients with ring (X) chromosomes and a severe phenotype." J. Med. Genet.. 1993;30(6):482-6. Abstract
Defloor T, van Borsel J, Schrander-Stumpel CTRM, Curfs LMG. "Expressive language in children with Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):256-9. Abstract
De Dios JAA, Javaid AA, Ballesteros E, Metersky ML. "An 18-year-old woman with Kabuki syndrome, immunoglobulin deficiency and granulomatous lymphocytic interstitial lung disease." Conn Med. 2012;76(1):15-8. Abstract
David-Paloyo FP, Yang X, Lin J-L, Wong F-H, Wu-Chou Y-H, Lo L-J. "Lower Lip Pits: Van der Woude or Kabuki Syndrome?" Cleft Palate Craniofac. J.. 2013. Abstract
David G, Sillence D, Hardwick R, Opitz JM. "A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome." Am. J. Med. Genet. A. 2004;130A(4):389-92. Abstract