Resultados de procura - Idkowiak, Jan

Monogenic Disorders of Adrenal Steroidogenesis por Baranowski, Elizabeth S., Arlt, Wiebke, Idkowiak, Jan

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The Regulation of Steroid Action by Sulfation and Desulfation por Mueller, Jonathan W., Gilligan, Lorna C., Idkowiak, Jan, Arlt, Wiebke, Foster, Paul A.

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Pubertal timing in boys and girls born to mothers with gestational diabetes mellitus: a systematic review por Subramanian, Anuradhaa, Idkowiak, Jan, Toulis, Konstantinos A, Thangaratinam, Shakila, Arlt, Wiebke, Nirantharakumar, Krishnarajah

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Role of ALADIN in Human Adrenocortical Cells for Oxidative Stress Response and Steroidogenesis por Jühlen, Ramona, Idkowiak, Jan, Taylor, Angela E., Kind, Barbara, Arlt, Wiebke, Huebner, Angela, Koehler, Katrin

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Causes, Patterns, and Severity of Androgen Excess in 1205 Consecutively Recruited Women por Elhassan, Yasir S, Idkowiak, Jan, Smith, Karen, Asia, Miriam, Gleeson, Helena, Webster, Rachel, Arlt, Wiebke, O’Reilly, Michael W

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A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency por Idkowiak, Jan, Randell, Tabitha, Dhir, Vivek, Patel, Pushpa, Shackleton, Cedric H. L., Taylor, Norman F., Krone, Nils, Arlt, Wiebke

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Evidence for Increased 5α-Reductase Activity During Early Childhood in Daughters of Women With Polycystic Ovary Syndrome por Torchen, Laura C., Idkowiak, Jan, Fogel, Naomi R., O'Neil, Donna M., Shackleton, Cedric H. L., Arlt, Wiebke, Dunaif, Andrea

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Human DHEA sulfation requires direct interaction between PAPS synthase 2 and DHEA sulfotransferase SULT2A1 por Mueller, Jonathan W., Idkowiak, Jan, Gesteira, Tarsis F., Vallet, Cecilia, Hardman, Rebecca, van den Boom, Johannes, Dhir, Vivek, Knauer, Shirley K., Rosta, Edina, Arlt, Wiebke

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Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism por Storbeck, Karl-Heinz, Schiffer, Lina, Baranowski, Elizabeth S, Chortis, Vasileios, Prete, Alessandro, Barnard, Lise, Gilligan, Lorna C, Taylor, Angela E, Idkowiak, Jan, Arlt, Wiebke, Shackleton, Cedric H L

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Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche por Idkowiak, Jan, Malunowicz, Ewa M., Dhir, Vivek, Reisch, Nicole, Szarras-Czapnik, Maria, Holmes, Donna M., Shackleton, Cedric H. L., Davies, John D., Hughes, Ieuan A., Krone, Nils, Arlt, Wiebke

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Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty por Idkowiak, Jan, Taylor, Angela E., Subtil, Sandra, O'Neil, Donna M., Vijzelaar, Raymon, Dias, Renuka P., Amin, Rakesh, Barrett, Timothy G., Shackleton, Cedric H. L., Kirk, Jeremy M. W., Moss, Celia, Arlt, Wiebke

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Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency por Reisch, Nicole, Idkowiak, Jan, Hughes, Beverly A., Ivison, Hannah E., Abdul-Rahman, Omar A., Hendon, Laura G., Olney, Ann Haskins, Nielsen, Shelly, Harrison, Rachel, Blair, Edward M., Dhir, Vivek, Krone, Nils, Shackleton, Cedric H. L., Arlt, Wiebke

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Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency por Idkowiak, Jan, O'Riordan, Stephen, Reisch, Nicole, Malunowicz, Ewa M., Collins, Felicity, Kerstens, Michiel N., Köhler, Birgit, Graul-Neumann, Luitgard Margarete, Szarras-Czapnik, Maria, Dattani, Mehul, Silink, Martin, Shackleton, Cedric H. L., Maiter, Dominique, Krone, Nils, Arlt, Wiebke

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Causes, patterns and severity of androgen excess in 487 consecutively recruited pre- and post-pubertal children por Idkowiak, Jan, Elhassan, Yasir S, Mannion, Pascoe, Smith, Karen, Webster, Rachel, Saraff, Vrinda, Barrett, Timothy G, Shaw, Nicholas J, Krone, Nils, Dias, Renuka P, Kershaw, Melanie, Kirk, Jeremy M, Högler, Wolfgang, Krone, Ruth E, O’Reilly, Michael W, Arlt, Wiebke

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The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series por Sun, Min, Mueller, Jonathan W, Gilligan, Lorna C, Taylor, Angela E, Shaheen, Fozia, Noczyńska, Anna, T’Sjoen, Guy, Denvir, Louise, Shenoy, Savitha, Fulton, Piers, Cheetham, Timothy D, Gleeson, Helena, Rahman, Mushtaqur, Krone, Nils P, Taylor, Norman F, Shackleton, Cedric H L, Arlt, Wiebke, Idkowiak, Jan

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PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations por Oostdijk, Wilma, Idkowiak, Jan, Mueller, Jonathan W., House, Philip J., Taylor, Angela E., O'Reilly, Michael W., Hughes, Beverly A., de Vries, Martine C., Kant, Sarina G., Santen, Gijs W. E., Verkerk, Annemieke J. M. H., Uitterlinden, André G., Wit, Jan M., Losekoot, Monique, Arlt, Wiebke

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Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency por Krone, Nils, Reisch, Nicole, Idkowiak, Jan, Dhir, Vivek, Ivison, Hannah E., Hughes, Beverly A., Rose, Ian T., O'Neil, Donna M., Vijzelaar, Raymon, Smith, Matthew J., MacDonald, Fiona, Cole, Trevor R., Adolphs, Nicolai, Barton, John S., Blair, Edward M., Braddock, Stephen R., Collins, Felicity, Cragun, Deborah L., Dattani, Mehul T., Day, Ruth, Dougan, Shelley, Feist, Miriam, Gottschalk, Michael E., Gregory, John W., Haim, Michaela, Harrison, Rachel, Haskins Olney, Ann, Hauffa, Berthold P., Hindmarsh, Peter C., Hopkin, Robert J., Jira, Petr E., Kempers, Marlies, Kerstens, Michiel N., Khalifa, Mohamed M., Köhler, Birgit, Maiter, Dominique, Nielsen, Shelly, O'Riordan, Stephen M., Roth, Christian L., Shane, Kate P., Silink, Martin, Stikkelbroeck, Nike M. M. L., Sweeney, Elizabeth, Szarras-Czapnik, Maria, Waterson, John R., Williamson, Lori, Hartmann, Michaela F., Taylor, Norman F., Wudy, Stefan A., Malunowicz, Ewa M., Shackleton, Cedric H. L., Arlt, Wiebke

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