A Novel Ultrapressure Liquid Chromatography Tandem Mass Spectrometry Method for the Simultaneous Determination of Androstenedione, Testosterone, and Dihydrotestosterone in Pediatri... von Kulle, A. E., Riepe, F. G., Melchior, D., Hiort, O., Holterhus, P. M.

Volltext

Duplication of The SOX3 Gene in an Sry-negative 46,XX Male with Associated Congenital Anomalies of Kidneys and the Urinary Tract: Case Report and Review of the Literature von Tasic, V, Mitrotti, A, Riepe, F G, Kulle, A E, Laban, N, Polenakovic, M, Plaseska-Karanfilska, D, Sanna-Cherchi, S, Kostovski, M, Gucev, Z

Volltext

No Correlation between Androgen Receptor CAG and GGN Repeat Length and the Degree of Genital Virilization in Females with 21-Hydroxylase Deficiency von Welzel, M., Schwarz, H.-P., Hedderich, J., Dörr, H. G., Binder, G., Brämswig, J. H., Krude, H., Richter-Unruh, A., Niedziela, M., Gromoll, J., Krone, N., Riepe, F. G., Holterhus, P.-M.

Volltext

LC–MS/MS based determination of basal- and ACTH-stimulated plasma concentrations of 11 steroid hormones: implications for detecting heterozygote CYP21A2 mutation carriers von Kulle, A E, Riepe, F G, Hedderich, J, Sippell, W G, Schmitz, J, Niermeyer, L, Holterhus, P M

Volltext

Principles and clinical applications of liquid chromatography — tandem mass spectrometry for the determination of adrenal and gonadal steroid hormones von Kulle, A. E., Welzel, M., Holterhus, P.-M., Riepe, F. G.

Volltext

Automated chromatographic system for the simultaneous measurement of plasma pregnenolone and 17-hydroxypregnenolone by radioimmunoassay von Riepe, F.G, Wonka, S, Partsch, C.-J, Sippell, W.G

Volltext

Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency von Pulichino, Anne-Marie, Vallette-Kasic, Sophie, Couture, Catherine, Gauthier, Yves, Brue, Thierry, David, Michel, Malpuech, Georges, Deal, Cheri, Van Vliet, Guy, De Vroede, Monique, Riepe, Felix G, Partsch, Carl-Joachim, Sippell, Wolfgang G, Berberoglu, Merih, Atasay, Begüm, Drouin, Jacques

Volltext

Chromatographic system for the simultaneous measurement of plasma 18-hydroxy-11-deoxycorticosterone and 18-hydroxycorticosterone by radioimmunoassay: reference data for neonates an... von Riepe, F.G, Krone, N, Peter, M, Sippell, W.G, Partsch, C.-J

Volltext

Rare Missense P450c17 (CYP17A1) Mutation in Exon 1 as a Cause of 46,XY Disorder of Sexual Development: Implications of Breast Tissue ‘Unresponsiveness' despite Adequate Estradiol S... von Athanasoulia, A.P., Auer, M., Riepe, F.G., Stalla, G.K.

Volltext

Testosterone Synthesis in Patients with 17β-Hydroxysteroid Dehydrogenase 3 Deficiency von Werner, R., Kulle, A., Sommerfeld, I., Riepe, F.G., Wudy, S., Hartmann, M.F., Merz, H., Döhnert, U., Bertelloni, S., Holterhus, P.-M., Hiort, O.

Volltext

Aldosterone synthase deficiency type II with hypospadias von Gucev, Z, Tasic, V, Pop-Jordanova, N, Riepe, F G

Volltext

Androgen Receptor Mutations Are Associated with Altered Epigenomic Programming as Evidenced by HOXA5 Methylation von Bens, S., Ammerpohl, O., Martin-Subero, J.I., Appari, M., Richter, J., Hiort, O., Werner, R., Riepe, F.G., Siebert, R., Holterhus, P.-M.

Volltext

Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation von RIEPE, Felix G, PARTSCH, Carl-Joachim, BLANKENSTEIN, Oliver, MÖNIG, Heiner, PFÄFFLE, Roland W, SIPPELL, Wolfgang G

Volltext

Serum cortisol and cortisone levels in newborns with congenital adrenal hyperplasia before the start of therapy von Dötsch, J, Hohenberger, I, Riepe, F G, Sippell, W G, Dörr, H G

Volltext

The Increased Lysis of Fetal Cells in the Mother after Pregnancies Complicated by Pre-eclampsia or HELLP Syndrome is not the Result of a Specific Anti-fetal Cytotoxicity of the Mot... von Brune, Thomas, Hornung, Tanja, Koch, Hans-Georg, G. Riepe, Felix, Louwen, Frank

Volltext

Differentiation of single populations in a bidirectional mixed lymphocyte culture using X and Y chromosome-specific FiSH markers von Brune, Thomas, Riepe, Felix G, Beier, Kirsten, Exeler, Rita, Louwen, Frank, Garritsen, Henk

Volltext

The Cellular Immune Response of Children is Specifically Decreased Against their Parents but not Vice versa, Independent of Pregnancy, age, or HLA or HY Antigens von Brune, Thomas, Riepe, Felix G., Garritsen, Henk, Exeler, Rita, Louwen, Frank, Harms, Erik

Volltext

A Case of 11β-Hydroxylase Deficiency Detected in a Newborn Screening Program by Second-Tier LC-MS/MS von Peter, M., Janzen, N., Sander, S., Korsch, E., Riepe, F.G., Sander, J.

Volltext

Homozygous Disruption of P450 Side-Chain Cleavage (CYP11A1) Is Associated with Prematurity, Complete 46,XY Sex Reversal, and Severe Adrenal Failure von Hiort, Olaf, Holterhus, Paul-Martin, Werner, Ralf, Marschke, Christine, Hoppe, Ute, Partsch, Carl-Joachim, Riepe, Felix G., Achermann, John C., Struve, Dagmar

Volltext

Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency: Functional Characterization of Two Novel Point Mutations and a Three-Base Pair Deletion in the CYP11B1 Gene von Krone, Nils, Riepe, Felix G., Götze, Dorothea, Korsch, Eckhard, Rister, Manfred, Commentz, Jens, Partsch, Carl-Joachim, Grötzinger, Joachim, Peter, Michael, Sippell, Wolfgang G.

Volltext