Publications

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A
Abd SE, Wilson L, Howlin P, Patton MA, Wintgens AM, Wilson R. "Agenesis of the corpus callosum in Turner syndrome with ring X." Dev Med Child Neurol. 1997;39(2):119-24. Abstract
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
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
Adam MP, Hudgins L. "Kabuki syndrome: a review." Clin. Genet.. 2005;67(3):209-19. Abstract
Aguilera Albesa S, Botella Astorqui MP, Ocio Ocio I. "[Kabuki syndrome in the differential diagnosis of neonatal hypotonia]." An Pediatr (Barc). 2009;70(1):91-3.
Akin Sari B, Karaer K, Bodur S, Soysal SA. "Case report: autistic disorder in Kabuki syndrome." J Autism Dev Disord. 2008;38(1):198-201.
Al Mosawi AJ, Fewin L. "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
Ali M, Hom RA, Blakeslee W, Ikenouye L, Kutateladze TG. "Diverse functions of PHD fingers of the MLL/KMT2 subfamily." Biochim. Biophys. Acta. 2014;1843(2):366-71. Abstract
Anandan M, Porter NJ, Nemeth AH, Blair E, Downes SM. "Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome)." Ophthalmic Genet.. 2005;26(4):181-3. Abstract
Andersen MS, Menazzi S, Brun P, Cocah C, Merla G, Solari A. "[Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases]." Arch Argent Pediatr. 2014;112(1):26-32. Abstract
Ang S-Y, Uebersohn A, Spencer IC, et al. "KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation." Development. 2016;143(5):810-21. Abstract
Aoyagi S, Kumade M, Tanaka K, Aso K, Kosuga K, Ohishi K. "[A case report of Kabuki make-up syndrome with partial anomalous pulmonary venous return and ASD]." Rinsho Kyobu Geka. 1988;8(4):415-7.
Armstrong L, Abd El Moneim A, Aleck K, et al. "Further delineation of Kabuki syndrome in 48 well-defined new individuals." Am. J. Med. Genet. A. 2005;132A(3):265-72. Abstract
Arnaud M, Barat-Houari M, Gatinois V, et al. "[Kabuki syndrome: Update and review]." Arch Pediatr. 2015. Abstract
Atalay YO, Kaya C, Ustun YB, Sahinoglu AH. "Anesthesia management in a patient with kabuki syndrome." Med Arch. 2014;68(5):359-60. Abstract
Atar M, Lee W, O'Donnell D. "Kabuki syndrome: oral and general features seen in a 2-year-old Chinese boy." Int J Paediatr Dent. 2006;16(3):222-6. Abstract
B
Banka S, Howard E, Bunstone S, et al. "MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome." Clin. Genet.. 2012. 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
Banka S, Lederer D, Benoit V, et al. "Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)." Clin. Genet.. 2014. Abstract
Barozzi S, Di Berardino F, Atzeri F, et al. "Audiological and vestibular findings in the Kabuki syndrome." Am. J. Med. Genet. A. 2009;149A(2):171-6. Abstract
Bayar Muluk N, Yalçinkaya F, Budak B, Gündüz S, Ayas K. "Evaluation for language and speech development in Kabuki make-up syndrome: a case report." Int. J. Pediatr. Otorhinolaryngol.. 2009;73(12):1837-40. Abstract
Belengeanu V, Rozsnyai K, Farcaş S, Velea I, Fryns J-P. "Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?" Genet. Couns.. 2005;16(2):167-71. Abstract
Ben-Omran T, Teebi AS. "Structural central nervous system (CNS) anomalies in Kabuki syndrome." Am. J. Med. Genet. A. 2005;137(1):100-3.
Benjamin JS, Pilarowski GO, Carosso GA, et al. "A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome." Proceedings of the National Academy of Sciences. 2016:201611431.
Berdasco M, Esteller M. "Genetic syndromes caused by mutations in epigenetic genes." Hum. Genet.. 2013;132(4):359-83. Abstract