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2016
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
Karagianni P, Lambropoulos V, Stergidou D, Fryssira H, Chatziioannidis I, Spyridakis I. "Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited." Am. J. Med. Genet. A. 2016;170(5):1333-8. Abstract
Lange L, Pagnamenta AT, Lise S, et al. "A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia." Clin. Genet.. 2016. 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.
Ang S-Y, Uebersohn A, Spencer IC, et al. "KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation." Development. 2016;143(5):810-21. Abstract
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
Frans G, Meyts I, Devriendt K, Liston A, Vermeulen F, Bossuyt X. "Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome." Am. J. Med. Genet. A. 2016;170(3):801-3.
Mock JR, Kolb TM, Illei PB, Yang SC, Lederman HM, Merlo CA. "Bronchus Associated Lymphoid Tissue in Kabuki Syndrome with Associated Hyper-IgM Syndrome/Common Variable Immunodeficiency." Am. J. Respir. Crit. Care Med.. 2016.
Bögershausen N, Gatinois V, Riehmer V, et al. "Mutation Update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2." Hum. Mutat.. 2016. Abstract
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
Lindsley AW, Saal HM, Burrow TA, et al. "Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome." J. Allergy Clin. Immunol.. 2016;137(1):179-87.e10. Abstract
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
Paděrová J, Holubová A, Simandlová M, et al. "Molecular genetic analysis in 14 czech kabuki syndrome patients is confirming the utility of phenotypic scoring." Clin. Genet.. 2016. Abstract
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
Paik JM, Lim SY. "Kabuki Syndrome with Cleft Palate." Archives of Plastic Surgery. 2016;43(5):474.
Schott DA, Gerver WJM, Stumpel CTRM. "Growth Hormone Stimulation Tests in Children with Kabuki Syndrome." Hormone Research in Paediatrics. 2016;86(5):319-324.
Schott DA, Blok MJ, Gerver WJM, Devriendt K, Zimmermann LJI, Stumpel CTRM. "Growth pattern in Kabuki syndrome with a KMT2D mutation." American Journal of Medical Genetics Part A. 2016;170(12):3172-3179.
Loviglio MN, Beck CR, White JJ, et al. "Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics." Genome Medicine. 2016.
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.
Margot H, Geneviève D, Gatinois V, et al. "Typical facial gestalt in X-linked Kabuki syndrome." American Journal of Medical Genetics Part A. 2016;170(12):3363-3364.
Bögershausen N, Altunoglu U, Beleggia F, et al. "An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity." American Journal of Medical Genetics Part A. 2016;170(12):3282-3288.
Digilio MC, Marino B. "What Is New in Genetics of Congenital Heart Defects?" Frontiers in Pediatrics. 2016;4952140A825658359945621359321121513093155A167A958171004290642879352219638418918158A33104424142481478096159323578138(381).
Herz H-M. "Enhancer deregulation in cancer and other diseases." BioEssays. 2016;38(10):1003-1015.
Bernier F-E, Schreiber A, Coulombe J, Hatami A, Marcoux D. "Pilomatricoma Associated with Kabuki Syndrome." Pediatric Dermatology. 2016.
Lu J, Mo G, Ling Y, Ji L. "A novel KMT2D mutation resulting in Kabuki syndrome: A case report." Molecular Medicine Reports. 2016.