Publications
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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
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Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome." Clin. Dysmorphol.. 2004;13(3):143-50. Abstract
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Ectodermal abnormalities in patients with kabuki syndrome." Pediatr Dermatol. 2011;28(5):507-11. Abstract
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Genetic syndromes caused by mutations in epigenetic genes." Hum. Genet.. 2013;132(4):359-83. Abstract
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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
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Humoral deficiency in three paediatric patients with genetic diseases." Allergol Immunopathol (Madr). 2016;44(3):257-62. Abstract
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An infantile case of Zellweger syndrome presented with Kabuki-like phenotype." Genet. Couns.. 2011;22(2):217-20. Abstract
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Jaw-winking ptosis in a patient with Kabuki syndrome." J Pediatr Ophthalmol Strabismus. 2004;41(6):369-72. Abstract
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Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features." Dev Med Child Neurol. 1997;39(7):487-90. Abstract
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Kabuki Makeup Syndrome Associated With Megaureter." Pediatrics International. 1987;29(1):182-185.
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Kabuki syndrome and sex chromosomal anomalies: is it really an association?" Fertil. Steril.. 2009;91(5):e6.
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Kabuki syndrome as a cause of non-immune fetal hydrops/ascites." American Journal of Medical Genetics Part A. 2016;170(12):3333-3337.
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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
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Macular deposits: a new feature of Kabuki syndrome?" J Pediatr Ophthalmol Strabismus. 2002;39(4):251-3.
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MLL2 and KDM6A mutations in patients with Kabuki syndrome." Am. J. Med. Genet. A. 2013;161(9):2234-43. Abstract
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New ocular findings in a case of Kabuki syndrome." Eye (Lond). 2004;18(3):322-4.
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Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases." PLoS ONE. 2015;10(5):e0126873. Abstract
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RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome." J. Clin. Invest.. 2015;125(9):3585-99. Abstract
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Severe congenital anomalies requiring transplantation in children with Kabuki syndrome." Am. J. Med. Genet.. 1998;80(4):362-7. Abstract
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