Dr. Connie Schrander-Stumpel

2010
Paulussen ADC, Stegmann APA, Blok MJ, et al. "MLL2 mutation spectrum in 45 patients with Kabuki syndrome." Hum. Mutat.. 2010. Abstract
2007
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
2005
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
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
1994
Fryns J-P, Van den Berghe H, Schrander-Stumpel CTRM. "Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4." Am. J. Med. Genet.. 1994;53(2):204-5.
Schrander-Stumpel CTRM, Meinecke P, Wilson GN, et al. "The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients." Eur. J. Pediatr.. 1994;153(6):438-45. Abstract
1993
Schrander-Stumpel CTRM, Theunissen PM, Hulsmans RF, Fryns J-P. "Kabuki make-up (Niikawa-Kuroki) syndrome in a girl presenting with vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism." Genet. Couns.. 1993;4(1):71-2.
1991
Schrander-Stumpel CTRM, Theunissen PM, Hulsmans RF, Fryns J-P. "Unknown. The combination of vitiligo vulgaris with somatic and psychomotor retardation, cleft palate and facial dysmorphism: a distinct entity?" Genet. Couns.. 1991;2(4):259-61.