Publications

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Van der Meulen J, Speleman F, Van Vlierberghe P. "The H3K27me3 demethylase UTX in normal development and disease." Epigenetics. 2014;9(5). 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
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
Nobili V, Marcellini M, Devito R, Capolino R, Viola L, Digilio MC. "Hepatic fibrosis in Kabuki syndrome." Am. J. Med. Genet. A. 2004;124A(2):209-12. Abstract
Bjornsson HT, Benjamin JS, Zhang L, et al. "Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome." Sci Transl Med. 2014;6(256):256ra135. Abstract
Banka S, Veeramachaneni R, Reardon W, et al. "How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum." Eur. J. Hum. Genet.. 2012;20(4):381-8. 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
Kapoor RR, James C, Hussain K. "Hyperinsulinism in developmental syndromes." Endocr Dev. 2009;14:95-113. Abstract
Subbarayan A, Hussain K. "Hypoglycemia in Kabuki syndrome." Am. J. Med. Genet. A. 2014;164A(2):467-71. Abstract
Fryns J-P, Devriendt K. "Hypoplastic claviculae in the Kabuki (Niikawa-Kuroki) syndrome." Genet. Couns.. 1998;9(1):57-8.
Kung GC, Chang PM, Sklansky MS, Randolph LM. "Hypoplastic left heart syndrome in patients with Kabuki syndrome." Pediatr Cardiol. 2010;31(1):138-41. 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.
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
Ito N, Ihara K, Tsutsumi Y, Miyake N, Matsumoto N, Hara T. "Hypothalamic pituitary complications in Kabuki syndrome." Pituitary. 2012. Abstract