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Praveen, Valiyaparambil Pavithran; Ladjouze, Asmahane; Sauter, Kay-Sara; Pulickal, Annie; Katharopoulos, Efstathios; Trippel, Mafalda; Perren, Aurel; Pandey, Amit V; Flück, Christa E (2020). Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function. Journal of the Endocrine Society, 4(4), bvaa030. Oxford University Press 10.1210/jendso/bvaa030
Katharopoulos, Efstathios; Di Iorgi, Natascia; Fernandez-Alvarez, Paula; Pandey, Amit V.; Groessl, Michael; Dubey, Shraddha; Camats, Núria; Napoli, Flavia; Patti, Giuseppa; Lezzi, Marilea; Maghnie, Mohamad; Flück, Christa E. (2020). Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia. International journal of molecular sciences, 21(17), p. 6185. MDPI 10.3390/ijms21176185
Katharopoulos, Efstathios; Sauter, Kay; Pandey, Amit Vikram; Flück Pandey, Christa Emma (2019). In silico and functional studies reveal novel loss-of-function variants of SRD5A2, but no variants explaining excess 5α-reductase activity. The journal of steroid biochemistry and molecular biology, 190, pp. 263-272. Elsevier 10.1016/j.jsbmb.2019.01.017
