Publications

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2006
den Biggelaar AM, Kuijpers-Jagtman AM, Bergé SJ, Katsaros C. "[Kabuki syndrome, a congenital syndrome with multiple anomalies]." Ned Tijdschr Tandheelkd. 2006;113(12):516-9. Abstract
Ikezumi Y, Kabuki N, Hayakawa H, Matsui T, Gunji T, Uchiyama M. "Two patients with arthrogryposis-renal tubular dysfunction-cholestasis syndrome in a Japanese family." Pediatr Int. 2006;48(4):416-9.
Bottani A, Pardo B, Bouchardy I, Schoumans J, Toutain A, Conrad B. "No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome." Am. J. Med. Genet. A. 2006;140(8):903-5.
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
Zimmermann T, Brasch F, Rauch A, Stachel D, Holter W, Beck JD. "CR10/80--Lymphoid interstitial pneumonia and Kabuki-Syndrome in a young man." Paediatr Respir Rev. 2006;7 Suppl 1:S329.
dos Santos BM, Ribeiro RR, Stuani AS, de Paula e Silva FWG, de Queiroz AM. "Kabuki make-up (Niikawa-Kuroki) syndrome: dental and craniofacial findings in a Brazilian child." Braz Dent J. 2006;17(3):249-54. Abstract
2005
Kittayalaksakun S, Suttipong W, Srivuthana S. "Children with clinical central diabetes insipidus at King Chulalongkorn Memorial Hospital." J Med Assoc Thai. 2005;88 Suppl 4:S17-22. Abstract
Vaccaro M, Salpietro DC, Briuglia S, Merlino MV, Guarneri F, Dallapiccola B. "Cutis laxa in Kabuki make-up syndrome." J. Am. Acad. Dermatol.. 2005;53(5 Suppl 1):S247-51. Abstract
Sanlaville D, Geneviève D, Bernardin C, et al. "Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome." Eur. J. Hum. Genet.. 2005;13(5):690-3. Abstract
Adam MP, Hudgins L. "Kabuki syndrome: a review." Clin. Genet.. 2005;67(3):209-19. Abstract
Hempel JM, Jäger L, Naumann A, Schorn K. "[Niikawa-Kuroki syndrome. Which characteristics must the HNO doctor consider in its diagnosis]." HNO. 2005;53(3):253-6. Abstract
Hoffman JD, Ciprero KL, Sullivan KE, et al. "Immune abnormalities are a frequent manifestation of Kabuki syndrome." Am. J. Med. Genet. A. 2005;135(3):278-81. Abstract
Ma KH, Chow SN, Yau FT. "Isolated adrenocorticotropin deficiency in a child with Kabuki syndrome." J. Pediatr. Endocrinol. Metab.. 2005;18(6):607-9. Abstract
Turner C, Lachlan K, Amerasinghe N, et al. "Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort." Eur. J. Hum. Genet.. 2005;13(6):716-20. Abstract
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
Phillips S, Hemmady S, Thomas P, ODoherty D. "Kabuki syndrome presenting with congenital talipes equinovarus." J Pediatr Orthop B. 2005;14(4):285-6.
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
Vaux KK, Jones KL, Jones MC, Schelley S, Hudgins L. "Developmental outcome in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):263-4. Abstract
Defloor T, van Borsel J, Schrander-Stumpel CTRM, Curfs LMG. "Expressive language in children with Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):256-9. Abstract
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
Mervis CB, Becerra AM, Rowe ML, Hersh JH, Morris CA. "Intellectual abilities and adaptive behavior of children and adolescents with Kabuki syndrome: a preliminary study." Am. J. Med. Genet. A. 2005;132A(3):248-55. Abstract
Schrander-Stumpel CTRM, Spruyt L, Curfs LMG, Defloor T, Schrander JJP. "Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management." Am. J. Med. Genet. A. 2005;132A(3):234-43. Abstract
Engelen JJM, Loneus WH, Vaes-Peeters G, Schrander-Stumpel CTRM. "Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients." Am. J. Med. Genet. A. 2005;132A(3):276-7. Abstract
Vaux KK, Hudgins L, Bird LM, et al. "Neonatal phenotype in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):244-7. Abstract
Ciprero KL, Clayton-Smith J, Donnai D, Zimmerman RA, Zackai EH, Ming JE. "Symptomatic Chiari I malformation in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):273-5. Abstract