Publications
Filters: First Letter Of Title is K [Clear All Filters]
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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KMT2D maintains neoplastic cell proliferation and global histone H3 lysine 4 monomethylation." Oncotarget. 2013;4(11):2144-53. Abstract
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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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KDM6A Point Mutations Cause Kabuki Syndrome." Hum. Mutat.. 2013;34(1):108-10. Abstract
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[Kabuki's syndrome. A recognizable picture from early infancy]." An. Esp. Pediatr.. 1997;47(4):429-31.
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Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13." J. Med. Genet.. 1995;32(3):227-30. Abstract
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Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression." Am. J. Med. Genet.. 2001;102(3):286-92. Abstract
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Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G." Brain Dev.. 2007;29(6):373-6. Abstract
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Kabuki Syndrome with Cleft Palate." Archives of Plastic Surgery. 2016;43(5):474.
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Kabuki Syndrome with additional dental findings: a case report." J Dent Child (Chic). 2008;75(2):185-7. Abstract
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[Kabuki syndrome: Update and review]." Arch Pediatr. 2015. Abstract
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Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients." Cleft Palate Craniofac. J.. 1995;32(1):77-84. Abstract
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Kabuki syndrome revisited." J. Hum. Genet.. 2012;57(4):223-7. Abstract
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Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation." Am. J. Med. Genet.. 2002;110(4):384-90. Abstract
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Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features." Ophthalmic Genet.. 2000;21(1):51-61. Abstract
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Kabuki syndrome presenting with congenital talipes equinovarus." J Pediatr Orthop B. 2005;14(4):285-6.
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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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Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort." Eur. J. Hum. Genet.. 2005;13(6):716-20. Abstract
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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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Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2." Am. J. Med. Genet.. 1996;65(2):101-3. 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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Kabuki syndrome in son and low grade mosaic 45,X/46,XX in mother." Genet. Couns.. 1996;7(3):201-6. Abstract
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Kabuki syndrome in a Haitian patient." Am. J. Med. Genet.. 2001;100(2):172-4.
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Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation." Fertil. Steril.. 2008;89(6):1826.e5-7. Abstract
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