Publications
Kabuki Make-up Syndrome - A Case Report with Electromyographic study." J Clin Diagn Res. 2014;8(11):ZD03-6. Abstract
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A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A." Am. J. Med. Genet. A. 2014. Abstract
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Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/- palate." Arch. Dis. Child. Fetal Neonatal Ed.. 2014. Abstract
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De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome." Am. J. Med. Genet. A. 2014;164(7):1744-9. Abstract
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The H3K27me3 demethylase UTX in normal development and disease." Epigenetics. 2014;9(5). 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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Diverse functions of PHD fingers of the MLL/KMT2 subfamily." Biochim. Biophys. Acta. 2014;1843(2):366-71. Abstract
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Hypoglycemia in Kabuki syndrome." Am. J. Med. Genet. A. 2014;164A(2):467-71. Abstract
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Immunologic Assessment and KMT2D mutation detection in Kabuki Syndrome." Clin. Genet.. 2014. Abstract
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CHARGE and Kabuki syndromes: A phenotypic and molecular link." Hum. Mol. Genet.. 2014. Abstract
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Autoimmune haematological disorders in two Italian children with Kabuki syndrome." Ital J Pediatr. 2014;40:10. Abstract
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Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene." BMC Med. Genet.. 2014;15:15. Abstract
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Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)." BMC Ophthalmol. 2014;14:143. Abstract
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Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl." J Pediatr Neurosci. 2013;8(3):259-60.
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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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Lower Lip Pits: Van der Woude or Kabuki Syndrome?" Cleft Palate Craniofac. J.. 2013. Abstract
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Epigenetics, autism spectrum, and neurodevelopmental disorders." Neurotherapeutics. 2013;10(4):742-56. Abstract
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Kabuki syndrome: a challenge for the primary care provider." J Am Assoc Nurse Pract. 2013;25(10):522-6. 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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Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome." J. Pediatr.. 2013. Abstract
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Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation." Mol Syndromol. 2013;4(3):152-6. Abstract
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