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Petri, Christina [Author]; Wudy, Stefan A. [Author]; Riepe, Felix Günther [Author]; Holterhus, Paul-Martin [Author]; Siegel, Jens [Author]; Hartmann, Michaela [Author]; Kulle, Alexandra E. [Author]; Welzel, Maik [Author]; Grötzinger, Joachim [Author]; Schild, Ralf L. [Author]; Heger, Sabine [Author]17α-hydroxylase deficiency diagnosed in early infancy caused by a novel mutation of the CYP17A1 Gene17α-Hydroxylase Deficiency Diagnosed in Early Infancy Caused by a Novel Mutation of the CYP17A1GeneView onlineSchließen
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Published in: Hormone research in paediatrics ; 81, (2014), 5
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Kulle, Alexandra E. [Author]Untersuchung zur Freisetzung kinetischer Energie bei Dissoziationsreaktionen multifunktionaler SystemeView onlineClose
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Kulle, Alexandra E.; Reinehr, Thomas; Simic-Schleicher, Gunter; Hornig, Nadine C.; Holterhus, Paul-MartinDetermination of 17OHPreg and DHEAS by LC-MS/MS: Impact of Age, Sex, Pubertal Stage, and BMI on the Δ5 Steroid PathwayView onlineSchließen
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You can manage bookmarks using lists, please log in to your user account for this.The Endocrine Society, 2017
Published in: The Journal of Clinical Endocrinology & Metabolism, 102 (2017) 1, Seite 232-241
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Kulle, Alexandra E.; Welzel, Maik; Holterhus, Paul-Martin; Riepe, Felix G.Implementation of a Liquid Chromatography Tandem Mass Spectrometry Assay for Eight Adrenal C-21 Steroids and Pediatric Reference DataView onlineSchließen
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Published in: Hormone Research in Paediatrics, 79 (2013) 1, Seite 22-31
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Aherrahrou, Redouane; Kulle, Alexandra E.; Alenina, Natalia; Werner, Ralf; Vens-Cappell, Simeon; Bader, Michael; Schunkert, Heribert; Erdmann, Jeanette; Aherrahrou, ZouhairCYP17A1 deficient XY mice display susceptibility to atherosclerosis, altered lipidomic profile and atypical sex developmentView onlineSchließen
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Published in: Scientific Reports, 10 (2020) 1
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Haag, Markus; Hamann, Tina; Kulle, Alexandra E.; Riepe, Felix G.; Blatt, Thomas; Wenck, Horst; Holterhus, Paul-Martin; Peirano, Reto IvoAge and skin site related differences in steroid metabolism in male skin point to a key role of sebocytes in cutaneous hormone metabolismView onlineSchließen
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Published in: Dermato-Endocrinology, 4 (2012) 1, Seite 58-64
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Holterhus, Paul-Martin; Roll, Claudia; Gaida, Barbara; Richter-Unruh, Annette; Kulle, Alexandra E.; Kaschta, Daniel; Hartmann, Michaela F.; Wudy, Stefan A.; Reinehr, ThomasGlobal adrenal insufficiency in two independent patients carrying the same homozygous c.172AG, p.(Thr58Ala) mutation in the TBX19 geneView onlineSchließen
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Published in: Hormone Research in Paediatrics (2024)
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Menabò, Soara; Polat, Seher; Baldazzi, Lilia; Kulle, Alexandra E.; Holterhus, Paul-Martin; Grötzinger, Joachim; Fanelli, Flaminia; Balsamo, Antonio; Riepe, Felix G.Correction: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutationsView onlineSchließen
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Published in: European Journal of Human Genetics, 28 (2020) 5, Seite 692-692
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Zalas, Dominika; Reinehr, Thomas; Niedziela, Marek; Borzikowsky, Christoph; Flader, Maciej; Simic-Schleicher, Gunter; Akkurt, Halit Ilker; Heger, Sabine; Hornig, Nadine; Holterhus, Paul-Martin; Kulle, Alexandra E.Multiples of Median-Transformed, Normalized Reference Ranges of Steroid Profiling Data Independent of Age, Sex, and UnitsView onlineSchließen
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Published in: Hormone Research in Paediatrics, 89 (2018) 4, Seite 255-264
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Petri, Christina; Wudy, Stefan A.; Riepe, Felix G.; Holterhus, Paul-Martin; Siegel, Jens; Hartmann, Michaela F.; Kulle, Alexandra E.; Welzel, Maik; Grötzinger, Joachim; Schild, Ralf L.; Heger, Sabine17α-Hydroxylase Deficiency Diagnosed in Early Infancy Caused by a Novel Mutation of the CYP17A1 GeneView onlineSchließen
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Published in: Hormone Research in Paediatrics, 81 (2014) 5, Seite 350-355
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Ellaithi, Mona; Werner, Ralf; Riepe, Felix G.; Krone, Nils; Kulle, Alexandra E.; Diab, Tayseer; Kamel, Alaa K.; Arlt, Wiebke; Holterhus, Paul-Martin; Sabir, Omyma; Hiort, Olaf46,XY Disorder of Sex Development in a Sudanese Patient Caused by a Novel Mutation in the HSD17B3 GeneView onlineSchließen
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Published in: Sexual Development, 8 (2014) 4, Seite 151-155
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Menabò, Soara; Polat, Seher; Baldazzi, Lilia; Kulle, Alexandra E; Holterhus, Paul-Martin; Grötzinger, Joachim; Fanelli, Flaminia; Balsamo, Antonio; Riepe, Felix GCongenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutationsView onlineSchließen
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Published in: European Journal of Human Genetics, 22 (2014) 5, Seite 610-616
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Yüksel, Bilgin; Kulle, Alexandra E.; Gürbüz, Fatih; Welzel, Maik; Kotan, Damla; Mengen, Eda; Holterhus, Paul-Martin; Topaloğlu, Ali Kemal; Grötzinger, Joachim; Riepe, Felix G.The Novel Mutation p.Trp147Arg of the Steroidogenic Acute Regulatory Protein Causes Classic Lipoid Congenital Adrenal Hyperplasia with Adrenal Insufficiency and 46,XY Disorder of Sex DevelopmentView onlineSchließen
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Published in: Hormone Research in Paediatrics, 80 (2013) 3, Seite 163-169
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Bens, Susanne; Mohn, Angelika; Yüksel, Bilgin; Kulle, Alexandra E.; Michalek, Matthias; Chiarelli, Franco; Nuri Özbek, Mehmet; Leuschner, Ivo; Grötzinger, Joachim; Holterhus, Paul-Martin; Riepe, Felix G.Congenital Lipoid Adrenal Hyperplasia: Functional Characterization of Three Novel Mutations in the STAR GeneView onlineSchließen
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Published in: The Journal of Clinical Endocrinology & Metabolism, 95 (2010) 3, Seite 1301-1308
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Jeschke, Janice K.; Biagioni, Cristina; Schierling, Tobias; Wagner, Isabel Viola; Börgel, Frederik; Schepmann, Dirk; Schüring, Andreas; Kulle, Alexandra E.; Holterhus, Paul Martin; von Wolff, Michael; Wünsch, Bernhard; Nordhoff, Verena; Strünker, Timo; Brenker, ChristophThe Action of Reproductive Fluids and Contained Steroids, Prostaglandins, and Zn2+ on CatSper Ca2+ Channels in Human SpermView onlineSchließen
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Published in: Frontiers in Cell and Developmental Biology, 9 (2021)
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Hornig, Nadine C; Demiri, Jeta; Rodens, Pascal; Murga Penas, Eva Maria; Caliebe, Almuth; Eckstein, Anne Katrin; Schweikert, Hans-Udo; Audi, Laura; Hiort, Olaf; Werner, Ralf; Kulle, Alexandra E; Ammerpohl, Ole; Holterhus, Paul-MartinReduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X/46,XY MosaicismView onlineSchließen
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Published in: The Journal of Clinical Endocrinology & Metabolism, 104 (2019) 10, Seite 4630-4638
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Hornig, Nadine C.; de Beaufort, Carine; Denzer, Friederike; Cools, Martine; Wabitsch, Martin; Ukat, Martin; Kulle, Alexandra E.; Schweikert, Hans-Udo; Werner, Ralf; Hiort, Olaf; Audi, Laura; Siebert, Reiner; Ammerpohl, Ole; Holterhus, Paul-MartinA Recurrent Germline Mutation in the 5’UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF TranslationView onlineSchließen
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Published in: PLOS ONE, 11 (2016) 4, Seite e0154158
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Hwang, Daw-Yang; Hung, Chi-Chih; Riepe, Felix G.; Auchus, Richard J.; Kulle, Alexandra E.; Holterhus, Paul-Martin; Chao, Mei-Chyn; Kuo, Mei-Chuan; Hwang, Shang-Jyh; Chen, Hung-ChunCYP17A1 Intron Mutation Causing Cryptic Splicing in 17α-Hydroxylase DeficiencyView onlineSchließen
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Published in: PLoS ONE, 6 (2011) 9, Seite e25492
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Hornig, Nadine C; Rodens, Pascal; Dörr, Helmuth; Hubner, Nina C; Kulle, Alexandra E; Schweikert, Hans-Udo; Welzel, Maik; Bens, Susanne; Hiort, Olaf; Werner, Ralf; Gonzalves, Susanne; Eckstein, Anne Katrin; Cools, Martine; Verrijn-Stuart, Annemarie; Stunnenberg, Hendrik G; Siebert, Reiner; Ammerpohl, Ole; Holterhus, Paul-MartinEpigenetic Repression of Androgen Receptor Transcription in Mutation-Negative Androgen Insensitivity Syndrome (AIS Type II)View onlineSchließen
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Published in: The Journal of Clinical Endocrinology & Metabolism, 103 (2018) 12, Seite 4617-4627
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Glasbey, James C; Omar, Omar; Nepogodiev, Dmitri; Minaya-Bravo, Ana; Bankhead-Kendall, Brittany Kay; Fiore, Marco; Futaba, Kaori; Gabre-Kidan, Alodia; Gujjuri, Rohan R; Isik, Arda; Kaafarani, Haytham M A; Kamarajah, Sivesh K; Li, Elizabeth; Löffler, Markus W; McLean, Kenneth A; Outani, Oumaima; Ntirenganya, Faustin; Satoi, Sohei; Shaw, Richard; Simoes, Joana F F; Stewart, Grant D; Tabiri, Stephen; Trout, Isobel M; Bhangu, Aneel A; [...]Preoperative nasopharyngeal swab testing and postoperative pulmonary complications in patients undergoing elective surgery during the SARS-CoV-2 pandemicView onlineSchließen
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Published in: British Journal of Surgery, 108 (2021) 1, Seite 88-96