Publications
Agenesis of the corpus callosum in Turner syndrome with ring X." Dev Med Child Neurol. 1997;39(2):119-24. Abstract
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Ectodermal abnormalities in patients with kabuki syndrome." Pediatr Dermatol. 2011;28(5):507-11. Abstract
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Kabuki syndrome: a review." Clin. Genet.. 2005;67(3):209-19. Abstract
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[Kabuki syndrome in the differential diagnosis of neonatal hypotonia]." An Pediatr (Barc). 2009;70(1):91-3.
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Case report: autistic disorder in Kabuki syndrome." J Autism Dev Disord. 2008;38(1):198-201.
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The first case of Niikawa-Kuroki syndrome in Kazakhstan associated with café au lait spots." G Ital Dermatol Venereol. 2009;144(5):613-5. Abstract
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Diverse functions of PHD fingers of the MLL/KMT2 subfamily." Biochim. Biophys. Acta. 2014;1843(2):366-71. Abstract
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Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome)." Ophthalmic Genet.. 2005;26(4):181-3. Abstract
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[Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases]." Arch Argent Pediatr. 2014;112(1):26-32. Abstract
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KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation." Development. 2016;143(5):810-21. Abstract
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[A case report of Kabuki make-up syndrome with partial anomalous pulmonary venous return and ASD]." Rinsho Kyobu Geka. 1988;8(4):415-7.
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Further delineation of Kabuki syndrome in 48 well-defined new individuals." Am. J. Med. Genet. A. 2005;132A(3):265-72. Abstract
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[Kabuki syndrome: Update and review]." Arch Pediatr. 2015. Abstract
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Anesthesia management in a patient with kabuki syndrome." Med Arch. 2014;68(5):359-60. Abstract
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Kabuki syndrome: oral and general features seen in a 2-year-old Chinese boy." Int J Paediatr Dent. 2006;16(3):222-6. 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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Audiological and vestibular findings in the Kabuki syndrome." Am. J. Med. Genet. A. 2009;149A(2):171-6. Abstract
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Evaluation for language and speech development in Kabuki make-up syndrome: a case report." Int. J. Pediatr. Otorhinolaryngol.. 2009;73(12):1837-40. Abstract
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Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?" Genet. Couns.. 2005;16(2):167-71. Abstract
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Structural central nervous system (CNS) anomalies in Kabuki syndrome." Am. J. Med. Genet. A. 2005;137(1):100-3.
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A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome." Proceedings of the National Academy of Sciences. 2016:201611431.
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Genetic syndromes caused by mutations in epigenetic genes." Hum. Genet.. 2013;132(4):359-83. Abstract
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