Publications

Sort by: Author Title Type [ Year (Asc)]
2006
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
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.
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.
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
McMahon CJ, Reardon W. "The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome." Cardiol Young. 2006;16(1):30-3. Abstract
Hamdi Kamel M, Gilmartin B, Mohan P, Hickey DP. "Successful long-term outcome of kidney transplantation in a child with Kabuki syndrome." Pediatr Transplant. 2006;10(1):105-7. Abstract
Miyake N, Shimokawa O, Harada N, et al. "No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients." Am. J. Med. Genet. A. 2006;140(3):291-3.
Shieh JTC, Hudgins L, Cherry AM, Shen Z, Hoyme EH. "Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome." Am. J. Med. Genet. A. 2006;140(2):170-3. Abstract
Canham NLE. "Cutis aplasia as a feature of Kabuki syndrome." Clin. Dysmorphol.. 2006;15(3):179-80. Abstract
Sethi SK, Faridi MMA. "Kabuki syndrome and diaphragmatic defect." Indian Pediatr. 2006;43(6):552-3.
Kara B, Kayserili H, Imer M, Calişkan M, Ozmen M. "Quadrigeminal cistern arachnoid cyst in a patient with Kabuki syndrome." Pediatr. Neurol.. 2006;34(6):478-80. Abstract
Atar M, Lee W, O'Donnell D. "Kabuki syndrome: oral and general features seen in a 2-year-old Chinese boy." Int J Paediatr Dent. 2006;16(3):222-6. Abstract
Tekin M, Fitoz S, Arici S, Cetinkaya E, Incesulu A. "Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: evidence for a wide spectrum of inner ear abnormalities." Int. J. Pediatr. Otorhinolaryngol.. 2006;70(5):885-9. Abstract
Iida T, Park S, Kato K, Kitano I. "Cleft palate in Kabuki syndrome: a report of six cases." Cleft Palate Craniofac. J.. 2006;43(6):756-61. Abstract
Suskind DL, Finn L, Wahbeh G, Christie D, Horslen S. "A child with Kabuki syndrome and primary sclerosing cholangitis successfully treated with ursodiol and cholestryamine." J. Pediatr. Gastroenterol. Nutr.. 2006;43(4):542-4.
2007
Ioan DM, Fryns J-P. "Kabuki syndrome: description of a 2-year old Roumanian boy and review of the literature." Genet. Couns.. 2007;18(1):113-7. Abstract
Isidor B, Rio M, Mourier O, Habes D, Amiel J, Jacquemin E. "Kabuki syndrome and neonatal cholestasis: report of a new case and review of the literature." J. Pediatr. Gastroenterol. Nutr.. 2007;45(2):261-4.
Ramachandran M, Kay RM, Skaggs DL. "Treatment of hip dislocation in Kabuki syndrome: a report of three hips in two patients." J Pediatr Orthop. 2007;27(1):37-40. Abstract
Ito H, Mori K, Inoue N, Kagami S. "A case of Kabuki syndrome presenting West syndrome." Brain Dev.. 2007;29(6):380-2. Abstract
Zannolli R, Buoni S, Macucci F, et al. "Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G." Brain Dev.. 2007;29(6):373-6. Abstract
Gidwani P, Segal E, Shanske A, Driscoll C. "Chorea associated with antiphospholipid antibodies in a patient with Kabuki syndrome." Am. J. Med. Genet. A. 2007;143A(12):1338-41. Abstract
Salpietro DC, Guarneri F, Rigoli L, Bruglia S, Guarneri C, Vaccaro M. "What syndrome is this? Kabuki make-up syndrome." Pediatr Dermatol. 2007;24(3):309-12.
Dyamenahalli U, Abraham B, Fontenot E, Prasad V, Imamura M. "Pathologic aneurysmal dilation of the ascending aorta and dilation of the main pulmonary artery in patients with Kabuki syndrome: valve-sparing aortic root replacement." Congenital heart disease. 2007;2(6):424-8. Abstract
Johnson G, Mayhew JF. "Anesthesia for a child with Kabuki Syndrome." Paediatr Anaesth. 2007;17(9):900-1.
Maas NMC, Van de Putte T, Melotte C, et al. "The C20orf133 gene is disrupted in a patient with Kabuki syndrome." J. Med. Genet.. 2007;44(9):562-9. Abstract