1.
Krankenpfl Soins Infirm
; 105(4): 22-4, 2012.
Article
in German
| MEDLINE
| ID: mdl-22545510
Subject(s)
Leadership , Nursing, Team , Curriculum , Diffusion of Innovation , Humans , Inservice Training , Job Satisfaction , Personnel Management , Social Change , Switzerland
2.
Am J Hum Genet
; 84(5): 658-63, 2009 May.
Article
in English
| MEDLINE
| ID: mdl-19361780
ABSTRACT
A girl with a prenatal 46,XY karyotype was born with a completely normal female phenotype, including uterus and histologically normal ovaries. In mice with a similar phenotype, the ablation of M33, an ortholog of Drosophila Polycomb, causes male-to-female sex reversal. The analysis of the human homolog of M33, Chromobox homolog 2 (CBX2), in this girl revealed loss-of-function mutations that allowed us, by placing CBX2 upstream of SRY, to add an additional component to the still incomplete cascade of human sex development.