Publications

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2001
Bereket A, Turan S, Alper G, Comu S, Alpay H, Akalin F. "Two patients with Kabuki syndrome presenting with endocrine problems." J. Pediatr. Endocrinol. Metab.. 2001;14(2):215-20. Abstract
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
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
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.
Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. "Congenital heart defects in Kabuki syndrome." Am. J. Med. Genet.. 2001;100(4):269-74. Abstract
Fong CT, Wang M, Young EC, et al. "Microtia associated with the Kabuki (Niikawa-Kuroki) syndrome." Otolaryngol Head Neck Surg. 2001;125(5):557-8.
McGaughran JM, Aftimos S, Jefferies C, Winship I. "Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand." Clin. Dysmorphol.. 2001;10(4):257-62. Abstract
2002
Hinrichs B, Gramss B, Meinecke P. "Defective clavicles in Kabuki syndrome." Genet. Couns.. 2002;13(4):477-9.
Prasad C, Chudley AE. "Genetics and cardiac anomalies: the heart of the matter." Indian J Pediatr. 2002;69(4):321-32. Abstract
Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ. "Kabuki syndrome: a review study of three hundred patients." Clin. Dysmorphol.. 2002;11(2):95-102. Abstract
Gabrielli O, Bruni S, Bruschi B, Carloni I, Coppa GV. "Kabuki syndrome and growth hormone deficiency: description of a case treated by long-term hormone replacement." Clin. Dysmorphol.. 2002;11(1):71-2.
Shotelersuk V, Punyashthiti R, Srivuthana S, Wacharasindhu S. "Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation." Am. J. Med. Genet.. 2002;110(4):384-90. Abstract
Elsherbiny SM. "Macular deposits: a new feature of Kabuki syndrome?" J Pediatr Ophthalmol Strabismus. 2002;39(4):251-3.
Dotta F, Vendrame F. "Neonatal syndromes of polyendocrinopathy." Endocrinol. Metab. Clin. North Am.. 2002;31(2):283-93, v. Abstract
Kurosawa K, Kawame H, Ochiai Y, Nakashima M, Tohma T, Ohashi H. "Patellar dislocation in Kabuki syndrome." Am. J. Med. Genet.. 2002;108(2):160-3. Abstract
Mihçi E, Taçoy S, Haspolat S, Karaali K. "Central nervous system abnormalities in Kabuki (Niikawa-Kuroki) syndrome." Am. J. Med. Genet.. 2002;111(4):448-9.
2003
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
Sakurai H, Nozaki M, Takeuchi M, Soejima K, Kajimoto M, Hori S. "Periorbital correction in Kabuki syndrome." Plast. Reconstr. Surg.. 2003;111(4):1461-4.
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
Powell HWR, Hart PE, Sisodiya SM. "Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome." Dev Med Child Neurol. 2003;45(12):841-3. Abstract
Milunsky JM, Huang XL. "Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH." Clin. Genet.. 2003;64(6):509-16. Abstract
Ming JE, Russell KL, Bason L, McDonald-McGinn DM, Zackai EH. "Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association." Am. J. Med. Genet. A. 2003;123A(3):249-52. Abstract
Petzold D, Kratzsch E, Opitz C, Tinschert S. "The Kabuki syndrome: four patients with oral abnormalities." Eur J Orthod. 2003;25(1):13-9. Abstract
Upton S, Stadter CS, Landis P, Wulfsberg EA. "Speech characteristics in the Kabuki syndrome." Am. J. Med. Genet. A. 2003;116A(4):338-41. Abstract
Matsumoto N, Niikawa N. "Kabuki make-up syndrome: a review." American journal of medical genetics. Part C, Seminars in medical genetics. 2003;117C(1):57-65. Abstract