Home

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 
1
De Dios JAA, Javaid AA, Ballesteros E, Metersky ML. "An 18-year-old woman with Kabuki syndrome, immunoglobulin deficiency and granulomatous lymphocytic interstitial lung disease." Conn Med. 2012;76(1):15-8. Abstract
A
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
Fahim SS, Adam JE. "Acanthosis nigricans in Kabuki syndrome." J Cutan Med Surg. 2004;8(3):157-61. Abstract
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
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
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.
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
Johnson G, Mayhew JF. "Anesthesia for a child with Kabuki Syndrome." Paediatr Anaesth. 2007;17(9):900-1.
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
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
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
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
Kokitsu-Nakata NM, Guion-Almeida ML. "Aural atresia and microtia in Kabuki syndrome." Am. J. Med. Genet. A. 2003;118A(4):391-3.
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
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
B
Kimberley KW, Morris CA, Hobart HH. "BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome." BMC Med. Genet.. 2006;7:46. Abstract
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.
Selicorni A, Colombo C, Bonato S, Milani D, Giunta AM, Bedeschi MF. "Biliary atresia and Kabuki syndrome: another case with long-term follow-up." Am. J. Med. Genet.. 2001;100(3):251.
McGaughran JM, Donnai D, Clayton-Smith J. "Biliary atresia in Kabuki syndrome." Am. J. Med. Genet.. 2000;91(2):157-8.
C
Casanova M, Selicorni A, Ferrari A. "Cancer predisposition in children with Kabuki syndrome." Am. J. Med. Genet. A. 2011;155A(6):1504.
Shah M, Bogucki B, Mavers M, deMello DE, Knutsen A. "Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report." BMC Med. Genet.. 2005;6:28. Abstract
Tawa R, Kaino Y, Ito T, Goto Y, Kida K, Matsuda H. "A case of Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction." Acta Paediatr Jpn. 1994;36(4):412-5. Abstract
Ijichi O, Kawakami K, Matsuda Y, et al. "A case of Kabuki make-up syndrome with EBV+Burkitt's lymphoma." Acta Paediatr Jpn. 1996;38(1):66-8. 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
Santiago J, Muszlak M, Goulois E, et al. "[A case of Kabuki syndrome admitted for acute diarrhea and growth retardation in a French hospital in tropical area]." Arch Pediatr. 2010;17(5):588-93. Abstract