Publications

Sort by: Author Title Type [ Year (Desc)]
2005
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
Schoumans J, Nordgren A, Ruivenkamp C, et al. "Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome." Eur. J. Hum. Genet.. 2005;13(2):260-3. 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
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
Ben-Omran T, Teebi AS. "Structural central nervous system (CNS) anomalies in Kabuki syndrome." Am. J. Med. Genet. A. 2005;137(1):100-3.
Pascual-Castroviejo I, Pascual-Pascual SI, Velázquez-Fragua R, Palencia R. "[Kabuki make-up syndrome. A report of 18 Spanish cases]." Rev Neurol. 2005;40(8):473-8. 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
2004
Takada K, Fukushima H, Watanabe S, Ishida M, Ogasawara H, Motokawa W. "Occlusal guidance of two Kabuki make-up syndrome patients: case reports." J Clin Pediatr Dent. 2004;28(2):113-8. Abstract
Kulkarni ML, Shetty SK, Chandrasekar VK, Kulkarni PM. "Kabuki make-up syndrome." Indian J Pediatr. 2004;71(9):857-9. Abstract
Emmert-Buck LT, Preslan MW, Kathuria SS. "Jaw-winking ptosis in a patient with Kabuki syndrome." J Pediatr Ophthalmol Strabismus. 2004;41(6):369-72. Abstract
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
Di Gennaro G, Sebastiano F, Quarato PP, Albertini G, Majolini L, Onorati P. "Temporo-occipital spikes: are they so typical for Kabuki syndrome?" Pediatr. Neurol.. 2004;31(5):379; author reply 379-80.
Fahim SS, Adam JE. "Acanthosis nigricans in Kabuki syndrome." J Cutan Med Surg. 2004;8(3):157-61. Abstract
Lüerssen K, Ptok M. "[Niikawa-Kuroki (Kabuki) syndrome and hearing impairment]." HNO. 2004;52(5):451-4. Abstract
Galán-Gómez E, Carbonell-Pérez JM, Cardesa-García JJ, et al. "A diagnostic conundrum: two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome?" Am. J. Med. Genet. A. 2004;125A(3):306-9. Abstract
Shalev SA, Clarke LA, Koehn D, et al. "Long-term follow-up of three individuals with Kabuki syndrome." Am. J. Med. Genet. A. 2004;125A(2):191-200. Abstract
Evans SL, Kumar N, Rashid MH, Hughes DS. "New ocular findings in a case of Kabuki syndrome." Eye (Lond). 2004;18(3):322-4.
White SM, Thompson EM, Kidd A, et al. "Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome." Am. J. Med. Genet. A. 2004;127A(2):118-27. Abstract
Miyake N, Harada N, Shimokawa O, et al. "On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS." Am. J. Med. Genet. A. 2004;128A(2):170-2.
Elliott AM, Reed MH, Evans JA, Cross HG, Chudley AE. "Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome." Clin. Dysmorphol.. 2004;13(3):143-50. Abstract
Nobili V, Marcellini M, Devito R, Capolino R, Viola L, Digilio MC. "Hepatic fibrosis in Kabuki syndrome." Am. J. Med. Genet. A. 2004;124A(2):209-12. Abstract
Oksanen VE, Arvio MA, Peippo MM, Valanne LK, Sainio KO. "Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome." Pediatr. Neurol.. 2004;30(1):67-70. 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.
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
Kashiwagi Y, Numabe H, Kawashima H, et al. "A case report of Kabuki make-up syndrome with cytomegalovirus infection." J. Infect.. 2004;48(3):278-82. Abstract