Publications

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Journal Article
Abdel-Salam GMH, Afifi HH, Eid MM, el-Badry TH, Kholoussi NM. "Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: a rare combination." Genet. Couns.. 2008;19(3):309-17. Abstract
Hoffman JD, Zhang Y, Greshock J, et al. "Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome." J. Med. Genet.. 2005;42(1):49-53. Abstract
Elliott AM, Reed MH, Evans JA, Cross HG, Chudley AE. "Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome." Clin. Dysmorphol.. 2004;13(3):143-50. Abstract
Abdel-Salam GMH, Afifi HH, Eid MM, El-Badry TH, Kholoussi N. "Ectodermal abnormalities in patients with kabuki syndrome." Pediatr Dermatol. 2011;28(5):507-11. Abstract
Berdasco M, Esteller M. "Genetic syndromes caused by mutations in epigenetic genes." Hum. Genet.. 2013;132(4):359-83. 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
Ezgu E, Eminoglu T, Okur I, et al. "An infantile case of Zellweger syndrome presented with Kabuki-like phenotype." Genet. Couns.. 2011;22(2):217-20. Abstract
Emmert-Buck LT, Preslan MW, Kathuria SS. "Jaw-winking ptosis in a patient with Kabuki syndrome." J Pediatr Ophthalmol Strabismus. 2004;41(6):369-72. Abstract
Ho HH, Eaves LC. "Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features." Dev Med Child Neurol. 1997;39(7):487-90. Abstract
Iwama Y, Sugiyama S, Kaiga K, Eguchi M, Furukawa T. "Kabuki Makeup Syndrome Associated With Megaureter." Pediatrics International. 1987;29(1):182-185.
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.
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.
Engelen JJM, Loneus WH, Vaes-Peeters G, Schrander-Stumpel CTRM. "Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients." Am. J. Med. Genet. A. 2005;132A(3):276-7. Abstract
Elsherbiny SM. "Macular deposits: a new feature of Kabuki syndrome?" J Pediatr Ophthalmol Strabismus. 2002;39(4):251-3.
Miyake N, Koshimizu E, Okamoto N, et al. "MLL2 and KDM6A mutations in patients with Kabuki syndrome." Am. J. Med. Genet. A. 2013;161(9):2234-43. Abstract
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
Evans SL, Kumar N, Rashid MH, Hughes DS. "New ocular findings in a case of Kabuki syndrome." Eye (Lond). 2004;18(3):322-4.
Moosmann J, Uebe S, Dittrich S, Rüffer A, Ekici AB, Toka O. "Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases." PLoS ONE. 2015;10(5):e0126873. Abstract
Bögershausen N, Tsai I-C, Pohl E, et al. "RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome." J. Clin. Invest.. 2015;125(9):3585-99. Abstract
Ewart-Toland A, Enns GM, Cox VA, Mohan GC, Rosenthal P, Golabi M. "Severe congenital anomalies requiring transplantation in children with Kabuki syndrome." Am. J. Med. Genet.. 1998;80(4):362-7. Abstract