Publications
[Kabuki syndrome, a congenital syndrome with multiple anomalies]." Ned Tijdschr Tandheelkd. 2006;113(12):516-9. Abstract
"
Two patients with arthrogryposis-renal tubular dysfunction-cholestasis syndrome in a Japanese family." Pediatr Int. 2006;48(4):416-9.
"
No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome." Am. J. Med. Genet. A. 2006;140(8):903-5.
"
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
"
CR10/80--Lymphoid interstitial pneumonia and Kabuki-Syndrome in a young man." Paediatr Respir Rev. 2006;7 Suppl 1:S329.
"
Kabuki make-up (Niikawa-Kuroki) syndrome: dental and craniofacial findings in a Brazilian child." Braz Dent J. 2006;17(3):249-54. Abstract
"
Children with clinical central diabetes insipidus at King Chulalongkorn Memorial Hospital." J Med Assoc Thai. 2005;88 Suppl 4:S17-22. Abstract
"
Cutis laxa in Kabuki make-up syndrome." J. Am. Acad. Dermatol.. 2005;53(5 Suppl 1):S247-51. Abstract
"
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
"
Kabuki syndrome: a review." Clin. Genet.. 2005;67(3):209-19. Abstract
"
[Niikawa-Kuroki syndrome. Which characteristics must the HNO doctor consider in its diagnosis]." HNO. 2005;53(3):253-6. Abstract
"
Immune abnormalities are a frequent manifestation of Kabuki syndrome." Am. J. Med. Genet. A. 2005;135(3):278-81. Abstract
"
Isolated adrenocorticotropin deficiency in a child with Kabuki syndrome." J. Pediatr. Endocrinol. Metab.. 2005;18(6):607-9. Abstract
"
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
"
Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report." BMC Med. Genet.. 2005;6:28. Abstract
"
Kabuki syndrome presenting with congenital talipes equinovarus." J Pediatr Orthop B. 2005;14(4):285-6.
"
Autoimmune disorders in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):260-2. Abstract
"
Developmental outcome in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):263-4. Abstract
"
Expressive language in children with Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):256-9. Abstract
"
Further delineation of Kabuki syndrome in 48 well-defined new individuals." Am. J. Med. Genet. A. 2005;132A(3):265-72. Abstract
"
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
"
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
"
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
"
Neonatal phenotype in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):244-7. Abstract
"
Symptomatic Chiari I malformation in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):273-5. Abstract
"