Publications

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Halal F, Gledhill R, Dudkiewicz A. "Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome." Am. J. Med. Genet.. 1989;33(3):376-81. Abstract
Giordano P, Lassandro G, Sangerardi M, Faienza MF, Valente F, Martire B. "Autoimmune haematological disorders in two Italian children with Kabuki syndrome." Ital J Pediatr. 2014;40:10. Abstract
Ming JE, Russell KL, McDonald-McGinn DM, Zackai EH. "Autoimmune disorders in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):260-2. Abstract
Parisi L, Di Filippo T, Roccella M. "Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases." Minerva Pediatr.. 2015;67(4):369-75. Abstract
Kokitsu-Nakata NM, Guion-Almeida ML. "Aural atresia and microtia in Kabuki syndrome." Am. J. Med. Genet. A. 2003;118A(4):391-3.
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
Geneviève D, Amiel J, Viot G, et al. "Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature." Am. J. Med. Genet. A. 2004;129A(1):64-8. Abstract
Cuscó I, del Campo M, Vilardell M, et al. "Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration." BMC Med. Genet.. 2008;9:27. Abstract
Hoffman JD, Zhang Y, Greshock J, et al. "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
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
Matsumura M, Yamada R, Kitani Y, et al. "Anorectal anomalies associated with Kabuki make-up syndrome." J. Pediatr. Surg.. 1992;27(12):1600-2. Abstract
Sivaci R, Kahveci OK, Celik M, Altuntas A, Solak M. "Anesthesia management in Kabuki make-up syndrome." Saudi Med J. 2005;26(12):1980-2. 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
Johnson G, Mayhew JF. "Anesthesia for a child with Kabuki Syndrome." Paediatr Anaesth. 2007;17(9):900-1.
Kokitsu-Nakata NM, Petrin AL, Heard JP, et al. "Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome." Am. J. Med. Genet. A. 2012;158A(8):2003-8. Abstract
Casado AI, Ruiz J, Oro J, Martínez C, Fernández I, Oliva P. "Anaesthetic management in a case of Kabuki syndrome." Eur J Anaesthesiol. 2004;21(2):162-3.
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
Oto J, Mano A, Nakataki E, et al. "An adult patient with Kabuki syndrome presenting with Henoch-Schönlein purpura complicated with pulmonary hemorrhage." J Anesth. 2008;22(4):460-3. Abstract
Burnell L, Verchere C, Pugash D, Loock C, Robertson S, Lehman A. "Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/- palate." Arch. Dis. Child. Fetal Neonatal Ed.. 2014. Abstract
Weir RAP, Alston AF, Ali MA-D. "Acute myocardial infarction in Kabuki syndrome: chance occurrence or a novel risk factor for premature atherosclerosis?" Int. J. Cardiol.. 2014;176(1):e26-8.
Duval R, Hammamji K, Aroichane M, Michaud JL, Ospina LH. "Acquired myelinated nerve fibers in association with optic disk drusen." J AAPOS. 2010;14(6):544-7. Abstract
Fahim SS, Adam JE. "Acanthosis nigricans in Kabuki syndrome." J Cutan Med Surg. 2004;8(3):157-61. Abstract
Priolo M, Micale L, Augello B, et al. "Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome." Mol. Genet. Metab.. 2012;107(3):627-9. Abstract