Baumgartner-Parzer, Sabina

EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

Baumgartner-Parzer, S., Witsch-Baumgartner, M., & Hoeppner, W. (2020) · European Journal of Human Genetics

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 110

Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation

Baumgartner-Parzer, S. M., Schulze, E., Waldhäusl, W., Pauschenwein, S., Rondot, S., Nowotny, P., Meyer, K., Frisch, H., Waldhauser, F., & Vierhapper, H. (2001) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 74

Duplications of the Functional CYP21A2 Gene Are Primarily Restricted to Q318X Alleles: Evidence for a Founder Effect

Kleinle, S., Lang, R., Fischer, G. F., Vierhapper, H., Waldhauser, F., Födinger, M., & Baumgartner-Parzer, S. M. (2009) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 67

Reduction of both number and proliferative activity of human endothelial progenitor cells in obesity

Tobler, K., Freudenthaler, A., Baumgartner-Parzer, S. M., Wolzt, M., Ludvik, B., Nansalmaa, E., Nowotny, P. J., Seidinger, D., Steiner, S., Luger, A., et al. (2010) · International Journal of Obesity

Angiogenesis and VEGF in CancerAdipokines, Inflammation, and Metabolic Diseases

Cited by 59

Salt wasting in simple virilizing congenital adrenal hyperplasia

Frisch, H., Battelino, Τ., Schober, Ε., Baumgartner-Parzer, S., Nowotny, P., & Vierhapper, Η. (2001) · Journal of Pediatric Endocrinology and Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 29

Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone

Németh, S., Riedl, S., Kriegshäuser, G., Baumgartner-Parzer, S., Concolino, P., Neocleous, V., Phylactou, L. A., Borucka-Mankiewicz, M., Onay, H., Tukun, A., et al. (2012) · Clinica Chimica Acta

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 20