Publications

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A
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
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
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.
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
B
Okada Y, Ono S, Tomomasa T, Inoue Y, Morikawa A. "Balloon angioplasty in a patient with Kabuki make-up syndrome." Pediatr Int. 2001;43(6):694-6.
C
David G, Sillence D, Hardwick R, Opitz JM. "A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome." Am. J. Med. Genet. A. 2004;130A(4):389-92. 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.
Fujishiro M, Ogihara T, Tsukuda K, et al. "A case showing an association between type 1 diabetes mellitus and Kabuki syndrome." Diabetes Res. Clin. Pract.. 2003;60(1):25-31. Abstract
Huh JK, Chung MS, Baek GH, Oh JH, Lee YH, Gong HS. "Cleft hand in Kabuki make-up syndrome: case report." J Hand Surg Am. 2011;36(4):653-7. Abstract
Courcet J-B, Faivre L, Michot C, et al. "Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome." J. Pediatr.. 2013. Abstract
Gürbüz F, Özalp Yüreğir Ö, Ceylaner S, Topaloğlu AK, Yüksel B. "Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis." J Clin Res Pediatr Endocrinol. 2016;8(1):105-6.
Matsune K, Shimizu T, Tohma T, Asada Y, Ohashi H, Maeda T. "Craniofacial and dental characteristics of Kabuki syndrome." Am. J. Med. Genet.. 2001;98(2):185-90. Abstract
D
Miyake N, Tsurusaki Y, Koshimizu E, et al. "Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations." Clin. Genet.. 2015. Abstract
Giudici V, Kanani M, Muthialu N, et al. "Duplicated left pulmonary artery: an unknown disease? Three case reports and review of the literature." Cardiol Young. 2015:1-7. Abstract
E
Ng SB, Bigham AW, Buckingham KJ, et al. "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome." Nat. Genet.. 2010;42(9):790-3. Abstract
F
Ogawa A, Yasumoto S, Tomoda Y, Ohfu M, Mitsudome A, Kuroki Y. "Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy." J. Child Neurol.. 2003;18(8):549-51. Abstract
Michot C, Corsini C, Sanlaville D, et al. "Finger creases lend a hand in Kabuki syndrome." Eur J Med Genet. 2013. Abstract
H
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
Cetinkaya E, Misirlioğlu ED, Vidinlisan S, Baydar Z, Ozhan ZR. "Hypospadias in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome." J. Pediatr. Endocrinol. Metab.. 2001;14(6):803-5. Abstract
I
Ezgu E, Eminoglu T, Okur I, et al. "An infantile case of Zellweger syndrome presented with Kabuki-like phenotype." Genet. Couns.. 2011;22(2):217-20. Abstract
K
Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. "Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency." J. Pediatr.. 1981;99(4):565-9. Abstract
Hostoffer RW, Bay CA, Wagner K, et al. "Kabuki make-up syndrome associated with an acquired hypogammaglobulinemia and anti-IgA antibodies." Clin Pediatr (Phila). 1996;35(5):273-6.
Watanabe T, Miyakawa M, Satoh M, Abe T, Oda Y. "Kabuki make-up syndrome associated with chronic idiopathic thrombocytopenic purpura." Acta Paediatr Jpn. 1994;36(6):727-9. Abstract
Mitsudome A, Yasumoto S, Fukami S, Ogawa A. "Kabuki make-up syndrome associated with West syndrome." Acta Paediatr Jpn. 1997;39(3):392-4. Abstract
Makita Y, Yamada K, Miyamoto A, Okuno A, Niikawa N. "Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41." Am. J. Med. Genet.. 1999;86(3):285-8. Abstract